[1]   Introduction

[1.1] The importance of the fast developing DNA technology and its impact on the rights of an individual and its societal effect have created an urgent need for getting acquainted with and understanding the basics of modern genetic science for an effective role by all those who are concerned with justice delivery system. In any informed discussion about the ethical legal and social implications of the “New Genetics”, a basic scientific background is an essential pre-requisite which need not wait till an expert witness enters the witness-box to enlighten the surroundings. The Constitution of India, by Article 51A(h) and (j), declares that, it shall be the duty of every citizen of India “to develop the scientific temper, humanism and the spirit of inquiry and reform”; and “to strive towards excellence in all spheres of individual and collective activity so that the nation constantly rises to higher levels of endeavour and achievement.” The Parliament is legislatively competent to make laws with respect to the Union agencies and institutions for professional, vocational or technical training, promotion of special studies or research, or scientific or technical assistance in the investigation or detection of crime and with respect to coordination and determination of standards in institutions for higher education or research and scientific and technical institutions. (Entries 65 and 66 of the Union List). The constitutional provisions take care of the scientific developments that may take place and may be put to use for the benefit of the people. The Constitution provides efficient scales for balancing between public and private interests and the Courts have put to use its provisions for an effective social engineering to protect both the cherished human rights recognized by the Constitution and the paramount public interest in a welfare State.

[2]   The Basics of Modern Genetic Science

[2.1] Every cell in the human body contains a nucleus, with the exception of red blood cells, which lose this structure as they mature. Within the nucleus are tightly coiled threadlike structures known as chromosomes. Humans normally have 23 pairs of chromosomes, one member of each pair derived from the mother and one from the father. One of those pairs consists of the sex chromosomes – with two X chromosomes determining femaleness, and one X and one Y determining maleness. The other 22 chromosomes are known as autosomes. Each chromosome has within it, arranged end-to-end, hundreds or thousands of genes, each with a specific location, consisting of the inherited genetic material known as deoxyribonucleic acid (DNA). Scientists have numbered these autosomes from 1 – 22 in size order, with chromosome 1 being the largest (containing nearly 3,000 genes). DNA contains a code that directs the `expression’ or production of proteins, which form much of the structure of the cell and control the chemical reactions within them. The DNA of each gene is characterized by a unique sequence of bases that form the `genetic code’. These bases are arranged in groups of three, known as codons or phrases. The base sequence is the crucial feature of the gene. It is this sequence that carries the genetic information essential for the synthesis of an RNA molecule that may subsequently direct the synthesis of a protein molecule or may itself be functional in the cell. This process is called gene expression; it has two stages. The first stage in gene expression is transcription (the process by which RNA directs the synthesis of a protein). Proteins are composed of amino acids and are the molecules that carry out the work of the cell. (See “The Ethics of Patenting DNA, a Discussion Paper published by Nuffield Council on Bioethics 2002). There are four basic building blocks (referred to as bases or nucleotides) for DNA: adenine (A) and guanine (G), which are known as purines; and thymine (T) and cytosine (C), which are known as pyrimidines. These nucleotides link together to form long polynucleotide chains, having a defined sequence of nucleotides. A DNA molecule consists of two of these chains, linked together by hydrogen bonds, running in opposite directions. The two chains link together in a ladder-like shape, twisted into the now famous double helix first described by James Watson and Francis Crick in 1953, who were awarded the Nobel Prize for their work “`A Structure for Deoxyribose Nucleic Acid’ (1953) 171 Nature 737. Linkage of the chains follows a strict rule, known as complementary base pairing, so that the base A can only pair with the base T, and vice versa; and the base G can only pair with the base C, and vice versa. The human genome is comprised of about 3.2 billion of these base pairs.

[2.2] A genome is an organism’s entire genetic material. All living organisms contain genetic material or genomes. One of the most commonly accepted definition of gene is that a gene contains all of the information required to determine the expression of a specific protein or chain of amino acid (a polypeptide). Sometimes a polypeptide can form a complete protein on its own (as in the case of insulin), but in most cases a number of polypeptides combine to create a single protein (as in the case of collagen and globin). Proteins are critical components of all cells, determining colour, shape and function. Proteins can have a structural role (such as keratin, from which hair is made), or a functional role in regulating the chemical reactions that occur within each cell (such as the enzymes involved in producing energy for the cell). Proteins are themselves made up of a chain of amino acids. Within the DNA there is a code that determines which amino acids will come together to form that particular protein. The genetic code for each amino acid, consisting of three bases, is virtually identical across all living organisms. Different genes are switched on and off in different cells, leading to different proteins being made or expressed with varying structures, appearances and functions – leading to the production of brain cells, nerve cells, blood cells, and so on. Contemporary stem cell research is based on the idea that it should be possible to learn how to use gene switches to coax stem cells into developing into the specialized cells or tissue needed for therapeutic purposes. When the instructions in a gene are to be read, the DNA comprising that gene unwinds and the two strands of the double helix separate. An enzyme called RNA polymerase allows a complementary copy of one strand of the DNA to be made. This copy is made from RNA nucleotides, and is called messenger RNA (or mRNA) because it carries the coded genetic information to the protein-producing units in the cell, called ribosomes. This process of reading the message in the DNA is called transcription. In the ribosomes, the amino acids are assembled in the precise order coded for in the mRNA. The process of converting the message encoded in the RNA (mRNA) to protein using the ribosome is called translation. When the whole message has been translated, the long chain of amino acids folds itself up into a distinctive shape that depends upon its sequence – and is then known as a protein. In humans, genes comprise only a small proportion of the DNA in a cell. Up to 98% of DNA consists of `non-coding’ regions – popularly, but incorrectly, referred to as `junk DNA’ – which are full of repeat sequences (micro-satellites), pseudogenes and retroviruses. By way of contrast, there are no non-coding portions of DNA in bacteria – there are only genes, each one expressing a specific protein. In recent years, genetic scientists increasingly have come to believe that non-coding DNA may be the basis for the complexity and sophistication of the human genome, which permits only 30,000 or so genes to produce about 200,000 proteins. A leader in this field, Professor John Mattick, Director of the Institute for Molecular Biology at the University of Queensland, has surmised that non-coding DNA forms a massive parallel processing system producing secondary signals that integrate and regulate the activity of genes and proteins. In effect, they co-ordinate complex programs involved in the development of complex organisms. (See Genetic Science, “Human Health and Gene Patent”, A.L.R.C., Issue Paper 27 Intellectual Property Rights over Genetic Materials …..”).

[2.3] According to recent estimates ( see E.Lander, `Genomic Information: Driving a Revolution in Bio-Medicine’, Paper presented at Seventh International Conference of the Human Genome Organization, Shanghai, 14 April 2002), all humans have the same basic set of about 30,000 – 35,000 genes, which is far lower than the early estimates of 200,000 (based on the number of proteins), and even the relatively recent estimates of 100,000 used at the start of Human Genome Project. Genes may come in different versions, known as alleles. These alleles arise when there is a change in the ordering of the bases (nucleotides) described above – in effect, a `typographical error’ in the code, involving the change of a single letter, the inversion of two letters, the deletion or insertion of a codon, or the repetition of a codon. This change in the sequence (a mutation) may cause no harm, merely resulting in a polymorphism, or it may make the gene faulty in the way it directs (expresses) the production of protein. In a very few cases the mutation is beneficial. Although any two human beings are at least 99.9% genetically identical, the precise DNA sequence of about 3.2 billion base pairs will differ slightly in each person’s genetic code. The 0.1% of difference is thought to compromise more than 10 million common single letter genetic variations (single nucleotide polymorphisms, or SNPs) as well as a larger number of rare variants. The rate of variation is very low in humans (one SNP per 1,300 bases) compared with other species, including other primates – suggesting a population that has descended from a small `starter population’. This explains both the striking similarities among all people, which are the result of our common inheritance, and the many individual differences found even within a nuclear family.

[2.4] Mutations are permanent and inheritable changes in the ability of a gene to encode its protein. Much like typographical errors, which can change the meaning of a word, or even render a sentence as gibberish, such changes in gene structure can have severe effects on the ability of a gene to encode its protein. Some mutations prevent any protein from being produced, some produce a non-functional or only partially functional protein, and some produce a faulty or poisonous version of the protein. (See R. Hawley and C Mori, The Human Genome: A User’s Guide (1999) Harcourt Academic Press, Burlington, 6).

[2.5] The unique combination of alleles found in a particular individual’s genetic make-up is said to constitute that person’s genotype. The observable physical characteristics of this genotype, as determined by the interaction of both genetic makeup and environmental factors, is said to constitute that person’s phenotype. This includes features such as colour of eye and hair, determined genetically, as well as height and weight – determined by genetic factors as well as by diet, access to proper healthcare and other environmental influences.

[2.6] Because mutations can affect the functioning and expression of the alleles of genes, resulting in particular traits or characteristics, it is possible to follow the pattern of inheritance of the different alleles of a gene in a family. For most genes, two copies are found in an individual. If the two copies are the same allele, the individual is said to be homozygous. If two different alleles for that gene are present, the individual is referred to as heterozygous for that gene – except for those traits coded for by genes that are found on the X chromosome. A dominant trait is one that is manifested when a person has only one mutated allele in a particular gene pair. An affected person may have inherited the mutated allele from either parent or, as the result of a new mutation, may be the first person in the family to have it. There is one-in-two chance that a child will inherit a genetic trait if one parent has a dominant mutated allele. Examples of autosomal dominant traits include HD, myotonic dystrophy, hereditary non-polyposis colorectal cancer, Marfan syndrome, familial adenomatous polyposis, and early onset familial Alzheimer’s disease. Tendency to identify a specific gene as the cause of disease obscures the vital role of genes in human health. Any catalogue of the human genome would disclose the list of diseases giving an impression that genes are there to cause disease. “To define genes by the diseases they cause is about as absurd as defining organs of the body by the diseases they get : livers are there to cause cirrhosis, hearts to cause heart attacks and brains to cause strokes. It is a measure, not of our knowledge but of our ignorance, that this is the way the genome catalogues read. It is literally true that the only thing we know about some genes is that their malfunction causes a particular disease. This is a pitifully small thing to know about a gene, and a terribly misleading one. The sufferers have the mutation, not the gene.” (See M Ridley, Genome: The Autobiography of Species in 23 Chapters (1999) Fourth Estate, London, 55).

[2.7] Medical conditions or diseases linked to genes can be classified in a number of ways, including : monogenic (or single gene) disorders; polygenic (or multi-gene) disorders; and multifactorial disorders. A monogenic disorder is one in which a mutation in one or both alleles of a single gene is the main factor in causing a genetic disease. Much of our early understanding about genetic influences on health is derived from the observation and study of monogenic disorders such as Huntington’s Disease (a neurodegenerative disease which is inherited in an autosomal dominant pattern) – although such diseases are relatively rare. The vast majority of medical conditions with some genetic link involve either the complex interaction of a number of genes (polygenic) or the complex interaction between genes and the environment (multifactorial disorders). In the case of multifactorial disorders, inheriting a mutated allele for a particular condition means that a person is susceptible or predisposed to develop the condition. Other factors such as diet or exposure to certain environmental factors are necessary to bring about the expression of the trait or condition. Most of the important and common medical problems in humans are multifactorial, including heart disease, hypertension, psychiatric illness (such as schizophrenia), dementia, diabetes, and cancers. According to the Human Genome Database, as on 29 December 2002, 14,014 genes had been mapped to individual chromosomes, of which 1,639 had been identified as being involved in a genetic disorder. It may be that most of the simple linkages have already been made, since the rate of discovery has slowed dramatically despite better technology; of the last 3,783 genes to have been mapped, only 17 have been identified with a genetic disorder.

[3]   The Human Genome Project, 1990 – 2003

[3.1] The Human Genome Project (HGP) traces its roots to an initiative in the U.S. Department of Energy (DOE). Since 1947, DOE and its predecessor agencies have been charged by the Congress with developing new energy resources and technologies and pursuing a deeper understanding of potential health and environmental risks posed by their production and use. In 1986, DOE took a bold step in announcing the Human Genome Initiative, convinced that its missions would be well served by a reference human genome sequence. Shortly thereafter, DOE joined with the National Institute of Health (NIH) to develop a plan for a joint HGP that officially began in 1990. During the early years of the HGP, the Welcome Trust, a private charitable institution in the United Kingdom, joined the effort as a major partner. Important contributions also came from other collaborators around the world, including Japan, France, Germany and China. The HGP’s ultimate goal was to generate a high-quality reference DNA sequence for the human genome’s 3 billion base pairs and to identify all human genes. Other important goals included sequencing the genomes of model organisms to interpret human DNA, enhancing computational resources to support future research and commercial applications, exploring gene function through mouse-human comparisons, studying human variation, and training future scientists in genomics. The powerful analytic technology and data arising from the HGP raise complex ethical and policy issues for individuals and society. These challenges include privacy, fairness in use and access of genomic information, reproductive and clinical issues, and commercialization. Programs that identify and address these implications have been an integral part of the HGP and have become a model for bioethics programs worldwide. In June 2000, to much excitement and fanfare, scientists announced the completion of the first working draft of the entire human genome. First analyses of the details appeared in the February 2001 issues of the journals Nature and Science. The high-quality reference sequence was completed in April 2003, marking the end of the Human Genome Project two years ahead of the original schedule. Coincidentally, this was also the 50th anniversary of Watson and Crick’s publication of DNA structure that launched the era of molecular biology. Available to researchers worldwide, the human genome reference sequence provides a magnificent and unprecedented biological resource that will serve throughout the century as a basis for research and discovery and, ultimately, myriad practical applications. The sequence already is having an impact on finding genes associated with human disease. Hundreds of other genome sequence projects – on microbes, plants and animals – have been completed since the inception of the HGP, and these data now enable detailed comparisons among organisms, including humans.

[3.2] Beyond sequencing, growing areas of research focus on identifying important elements in the DNA sequence responsible for regulating cellular functions and providing the basis of human variation. Perhaps the most daunting challenging is to begin to understand how all the “parts” of cells – genes, proteins, and many other molecules – work together to create complex living organisms. Future analyses on this treasury of data will provide a deeper and more comprehensive understanding of the molecular processes underlying life and will have an enduring and profound impact on how we view our own place in it.

[4]   DNA Fingerprinting

[4.1] Forensic scientists are able to “read” the DNA sequences and find differences among species. They reduce the base names down to letters, namely “a”, “c”, “t” and “g”. Then scientists read the sequence of these letters by looking at one-half of the ladder. Although the majority, 99.9% of the letter sequence on a human DNA strand is identical, there are portions of each strand that differ from individual to individual. Thus, in a DNA strand with three billion letters, one tenth of one percent difference translates into three million separate spelling difference. These are differences that scientists examine in the process known as DNA fingerprinting to determine identity and heritage. Unfortunately, for purposes of forensic DNA fingerprinting, scientists do not read all three billion letters. Instead, to save time and money, scientists look at a very small handful of sites of variation. Along the DNA strand, or genome, there are regions where the base pair sequences repeat themselves. For instance, one person could have the sequence of “t-a-c-t-g” repeat three times and another person could have that same sequence repeat twice or appear only once. Thus, these normally biologically insignificant sequence repetitions create spelling difference in particular areas. In general, forensic scientists cut the DNA strands with an enzyme at these points of repetition. They then record the repetition variations by reducing the data into a bar code type expression. When comparing DNA samples from crime scene evidence to a suspect’s DNA sample, scientists will compare the “bar code” information from each site of variation. If the bar code differs between the evidence and the suspect’s DNA at any point, that particular suspect is usually ruled out as a possible source of the DNA evidence. However, if the bar codes are the same along all points of variation tested, the suspect is considered more likely to have left the evidence. It is important to note, however, that this does not mean the suspect committed the crime or even left the DNA evidence. Because scientists do not read the entire DNA, looking for any and all variations, two samples conceivably could appear as exact matches but actually may differ in some other portion of the strand. (An International DNA Database: Balancing Hope, Privacy and Scientific Error – Allison Puri).

[4.2] Some courts have rejected the use of the term “DNA Fingerprinting”. (See Commonwealth v. Curnin, 409 Mass. 218, 219 n.2 (1991), because, (1) it tends to trivialize the intricacies of the processes by which information for DNA comparisons is obtained to the process of fingerprinting, and (2) the word fingerprinting tends to suggest erroneously that DNA testing of the type involved in this case will identify conclusively, like real fingerprinting, the one person in the world who could have left the identifying evidence at the crime scene.

[4.3] DNA profiles differ from conventional fingerprints in the following respects : (i) DNA holds vastly more information than fingerprints. (ii) DNA profile can be used in establishing kinship relations. (iii) The sample from which the profile was obtained may hold predictive health and other information of a sensitive nature. (iv) As genetic information is shared with biological relatives, an individual’s profile might indirectly implicate a relative in an offence. (v) DNA can be amplified from tiny and aged samples and may be recovered from almost any cell or tissue unlike fingerprints.

[4.4] DNA testing technology has developed three main types of DNA testing that are widely used for both science and legal identification purposes. The circumstances, such as the age, size, and handling of the sample, determine what type of testing is to be used.

[4.4.1] Restriction Fragment Length Polymorphism Testing (RFLPT) is widely used for legal identification purposes by forensic scientists. This procedure was developed by Professor Sir Alec Jeffreys and is generally accepted by the courts in the Unites States and has resulted in a number of post-conviction exonerations. This testing process does not actually “read” the sequence repetitions, but it isolates certain areas of repetition and essentially measures the length of these sections, which are then recorded as bar codes and compared between samples. RFLP Testing is best used on large, unadulterated or untarnished samples and when it is plausible, it is very discriminate, leading to statistically strong exclusions and inclusions even when only testing a few DNA regions.

[4.4.2] Polymerase Chain Reaction Testing-Nuclear DNA: This type of testing has become most widely used technique in the field of molecular biology and was first developed by Dr. Kary Mullis in 1984. PCR is also accepted by the courts and has led to a number of post-conviction exonerations. PCR testing can be done on a smaller and less pristine samples. Small samples can be subjected to PCR testing because sample amplification is part of the process. Essentially, specific regions of DNA are copied using an enzyme called Taq polymerase and then are compared in a type of bar code format. Like RFLP testing, an exclusion is generally considered dispositive, however an inclusion is less discriminate. Therefore, in order to have a more statistically strong inclusion, PCR testing needs to be conducted at a number of sites along the DNA strand.

[4.4.3] Polymerase Chain Reaction Testing – Mitochondrial DNA : Usually, MtDNA testing is used to link a sample to a particular family since mitochondria is passed from a mother to her offspring. This type of testing can be used on extremely old or damaged samples. It can be done on samples from dried bones, teeth, hair shafts, or any other sample that contains very little or highly degraded nuclear DNA. (See Allison Puri – An International DNA Database : Balancing Hope, Privacy, and Scientific Error; also see a decision of the Supreme Court of South Australia in R.V.Karger No.SCCRM-98-224 (2001) SASC 64C 29 March 2001, for a very detailed discussion on DNA technology in general and on Profiler Plus which is a megaplex system developed by Perkin Elmer enabling the inspection of 10 loci and upto 36 different samples: it was held in paragraph 184 of the judgement that it was established that there was a sufficient basis to accept that the user of Profiler Plus is part of relevant field of knowledge – Justice Mullighar).

[5]   Admissibility of DNA Evidence

[5.1] The discovery of DNA technology has profound impact not only in the field of genetic biology, but also in the field of law enforcement. The creation of the first DNA criminal investigative database in 1995 in Briton enabled law enforcement to better exploiting uses of DNA technology. The DNA technology has provided great advantages in the legal community. The technology has been useful in criminal investigation and also in civil disputes, such as, paternity disputes. The question therefore arises in the courts as to whether such scientific evidence as DNA should be considered in a given case. Under Section 45 of the Indian Evidence Act, 1872, it has been, inter alia, provided that, when the court has to form an opinion upon a point of science, or art, or as to identity of handwriting or finger impression, the opinions upon that point of persons specially skilled in science or art or any question as to identity of handwriting or finger impressions are relevant facts and such persons are called experts. The expression opinions upon a point of science of persons specially skilled in science is capable of application to all future advances in science which enable an expert opinion on a point.

[5.2] The original test for the admissibility of DNA and other scientific evidence was developed in Frye v. United States 293 F.1013(DC Cir.1923), and is commonly known as the “Frye standard”. The Frye opinion is remarkable both for its brevity and for its lack of citational adornment. The appellant who was convicted of the crime of murder contended that the trial court had committed an error in sustaining the objection by counsel of the government against the offer of the defendant (accused) of an expert witness to testify to the result of the systolic blood pressure deception test to which the defendant was subjected prior to the trial. The theory underlying the test was that “truth is spontaneous, and comes without conscious effort, while the utterance of falsehood requires a conscious effort, which is reflected in the blood pressure”. The Court of Appeal of District of Columbia held:”….. and while courts will go a long way in admitting expert testimony deduced from a well recognized scientific principle or discovery, the thing from which the deduction is made must be sufficiently established to have gained general acceptance in the particular field it belongs.” “We think the systolic blood pressure deception test has not yet gained such standing and sufficient recognition among physiological and psychological authorities as would justify the Courts in admitting expert testimony deduced from the discovery, development and experiments thus far made. The judgement is affirmed.” Thus, when MtDNA / PCR testing were new and done by only a few laboratories they would not have been treated as admissible under the Frye standard, which asked the courts to determine whether the scientific evidence in question has “gained general acceptance in the particular field in which it belongs”. Frye Standard was considered to be a roadblock to admissibility of even efficacious evidence simply because the techniques were recently discovered. There was therefore a need for a fresh look on the aspect of admissibility of scientific evidence in courts.

[5.2.1] The breakthrough came in 1993 when the U.S. Supreme Court in Daubert v. Merrell Dow Pharmaceuticals, Inc., 509 U.S. 579 (1993) held that the Frye’s “general acceptance” test was superseded by the Federal Rules of Evidence which provided the standard for admitting expert scientific testimony in a federal trial. Rule 702 governing expert testimony provided: “If scientific, technical, or other specialized knowledge will assist the trier of fact to understand the evidence or to determine a fact in issue, a witness qualified as an expert by knowledge, skill, experience, training, or education, may testify thereto in the form of an opinion or otherwise”. It was held that nothing in the text of the rule established “general acceptance” as an absolute prerequisite to admissibility. It was, however, held that the fact that the Frye’s test was displaced by the Rules of Evidence, did not mean that the Rules themselves placed no limits on the admissibility of purportedly scientific evidence. Nor is the trial Judge disabled from screening such evidence. “To the contrary, under the Rules, the trial judge must ensure that any and all scientific testimony or evidence admitted is not only relevant, but reliable”. It was held that, “the requirement that an expert’s testimony pertain to “scientific knowledge” establishes a standard of evidentiary reliability”. The key question to be answered in determining whether a theory or technique is scientific knowledge that will assist the court will be whether it can be tested or and has been tested. The Court held that “general acceptance” is not a necessary precondition to the admissibility of scientific evidence under the Federal Rules of Evidence which assigned to the trial judge the task of ensuring that an expert’s testimony both rests on a reliable foundation and is relevant to the task at hand. Pertinent evidence based on scientifically valid principles will satisfy those demands. The court noted that there are the important differences between the quest for truth in the courtroom and the quest for truth in the laboratory, observing: “Scientific conclusions are subject to perpetual revision. Law, on the other hand, must resolve disputes finally and quickly.The scientific project is advanced by broad and wide-ranging consideration of a multitude of hypotheses, for those that are incorrect will eventually be shown to be so, and that in itself is an advance. Conjectures that are probably wrong are of little use, however, in the project of reaching a quick, final, and binding legal judgement – often of great consequence – about a particular set of events in the past. We recognize that, in practice, a gatekeeping role for the judge, no matter how flexible, inevitably on occasion will prevent the jury from learning of authentic insights and innovations. That, nevertheless, is the balance that is struck by Rules of Evidence designed not for the exhaustive search for cosmic understanding, but for the particularized resolution of legal disputes."

[5.3] In order to determine whether scientific evidence is admissible, the court may consider – (1) whether the principle or technique has been or can be reliably tested, (2) whether it has been subjected to peer review or publication, (3) its known or potential rate of error, (4) whether there are standards or organizations controlling the procedures of the technique, (5) whether it is generally accepted by the community, and (6) whether the technique was created or conducted independently of the litigation. The Daubert test which still allows for consideration of “generally accepted” factor as one of the factors has somewhat increased the admissibility of DNA procedure, because, now newer tests can be recognized depending upon their authenticity and effectiveness.

[6]   Post- conviction DNA Testing

[6.1] DNA technology is not only useful for strengthening cases against suspects but has become extremely helpful in probing innocence of suspects and even past convicts. DNA testing has proved the innocence of convicted felons in many cases. The National Institute of Justice under the guidance of Former Attorney General Janet Reno, issued a report in 1996, entitled “Convicted by Juries, Exonerated by Science: Case Studies in the Use of DNA Evidence to Establish Innocence After Trial”, stressing importance of the use of DNA evidence to exonerate the innocents. The report provided twenty-eight case studies where the use of previously unavailable DNA technology proved the innocence of convicted felons. These twenty-eight men in the study had served an average of seven years in prison before exoneration. Three years after the initial report, the National Commission on the Future Use of DNA Evidence issued another report entitled “Post Conviction DNA Testing: Recommendations for Handling Requests.” This report was aimed at highlighting legal and scientific issues involved in post conviction testing and provided recommendations for prosecutors, defence counsel, the judiciary, victim assistance groups, and laboratory and law enforcement personnel. The post conviction cases highlight the importance of DNA technology and more specifically DNA database, as an investigative tool. (See Allison Puri – “An International DNA Database: Balancing Hope, Privacy, and Scientific Error”).

[6.2] The DNA evidence is now a predominant forensic technique for identifying criminals when biological tissues are left at scene of crime. DNA testing on samples such as saliva, skin, blood, hair or semen not only helps to convict but also serves to exonerate. The sophisticated technology makes it possible to obtain conclusive results in case in which the previous testing had been inconclusive. Post-conviction testing will be requested not only in cases in which the DNA testing was never done, but also in cases in which more refined technology may result in an indisputable answer. The Working Group on Post Conviction issues under the aeiges of the National Commission on the future of DNA Evidence published a report in September 19, 1999 entitled “Post Conviction DNA Testing : Recommendations for Handling requests” on the subject DNA victims’ rights and restorative justice. The document discusses the kind of legal issues that had already arisen and others that will probably develop as applications for post conviction DNA testing continue to be made and the technology to conduct those tests advances. The probative value of DNA testing has been steadily increasing as technological advances and growing databases expand the ability to identify perpetrators of crime and eliminate the suspects. The strong presumption that verdicts are correct, one of the underpinnings of restrictions on post-conviction relief, has been weakened by the growing number of convictions that have been vacated because of exclusionary DNA results. As observed in the report, DNA evidence gives rise to thorny legal issues, because post-conviction requests for testing do not fit well into the existing procedural schemes or established constitutional doctrine.

[6.3] By issuing orders, the Court can play an important role in helping to obtain access to evidence prior to testing, which is part of the screening process and helps determination if DNA evidence will be relevant to the case. In cases in which the biological evidence was collected and still exists, and if the evidence is subjected to DNA testing or re-testing, exclusionary results will exonerate the petitioner or support his claim of innocence, the court can issue orders permitting DNA testing or re-testing. Once post-conviction DNA test results have been obtained, if the results are favourable to the inmate and no alternative explanations exist, the court should be prepared to grant a joint request to vacate the conviction and in the absence of a joint request, an evidentiary hearing should be set to determine if there is a reasonable probability of a change in the verdict or judgement of conviction. In jurisdictions where conviction cannot be so upset on a joint request and appellate remedies are already exhausted, the clemency powers of the sovereign State can be invoked by forwarding an appropriate recommendation on the basis of the outcome of such DNA testing or re-testing. In the Indian context, the Constitution empowers the President of India under Article 72 and the Governor of a State under Article 161 to grant pardons, reprieves, respites or remissions of punishment or to suspend, remit or commute the sentence of any person convicted of the offences referred to thereunder.

[6.4] It is obligatory on the laboratory to perform quota DNA tests and to interpret and report the results accurately and without bias. The database can be helpful for linking previously unrelated cases and for screening and large number of known individuals already convicted of a crime. A “cold hit” from a database can prove to be a boon to a person undergoing sentence for proving his innocence. It would however appear that the need for post-conviction DNA testing will wane over a period of time when DNA testing with high discriminatory results will be performed in all cases in which biological evidence is relevant, and advanced technologies will become commonplace in all laboratories.

[7]   DNA Database and Constitutional Concerns

[7.1] In 1994, the DNA Identification Act authorized the FBI to establish the combined DNA Index System (CODIS), which consisted of three tiers of DNA data, namely, the Local DNA Index System (LDIS), which consisted of information installed by the laboratories of local police and sheriff departments; the State DNA Index System (SDIS) which allowed the individual local laboratories to exchange information throughout the state, and the National DNA Index System (NDIS) that allowed states to share information between each other on a national scale.

[7.2] The Australian Law Reform Commission, in its report “Essentially Yours: The Protection of Human Genetic Information in Australia”, in Chapter 43 relating to DNA Database Systems referred to the provisions for the usage, storage and disclosure of information of DNA database system contained in Part 1D of the Crimes Act and noted that, as of February 2003, Commonwealth had established three DNA databases for law enforcement purpose; the National Criminal Investigation DNA Database (NCIDD System) was established in June 2001 to facilitate intra-jurisdictional matching of DNA profiles, and iner-jurisdictional matching of profiles between participating jurisdictions, for law enforcement purposes, the Disaster Victim Identification Database (DVI) was established in October 2002 to identify the victims of the terrorists bombings in Bali, Indonesia, and other similar overseas incidents, finally, the Australian Federal Police (AFP) operates its own DNA database for law enforcement purposes. The CrimTrac Agency operates the NCIDD system and the DVI database pursuant to part 1D of the Crimes Act, 1914. It is an executive agency of the Commonwealth Government, established as a national law enforcement information system for Australia’s police services.

[7.3] DNA database system as defined in Section 23YDAC of Part 1D of the Crimes Act 1914 (Cth) of Australia, means a database (whether in computerized or other form and however described) containing : (a) the following indexes of DNA profiles : (i) a crime scene index; (ii) a missing persons index; (iii) an unknown deceased persons index; (iv) a serious offenders index; (v) a volunteers (unlimited purposes) index; (vi) a volunteers (limited purposes) index; (vii) a suspects index;and information that may be used to identify the person from whose forensic material each DNA profile was derived; and (b) a statistical index; and (c) any other index prescribed by the regulations."

[7.4] With the expansion of DNA databases, a concern has grown over privacy and abuse issues associated with such databases. The database supporters argue that statistics show that many offenders of particular types of crimes e.g. sex offenses, have a high incidence of repeat offenses, and a DNA database will help law enforcement identify suspects of new crimes who were previously convicted of earlier crimes. It is expected that DNA databases will produce a deterrent effect to counteract recidivistic tendencies and released convict will be less likely to commit crime again if he knows that his DNA is on file with the government and he can therefore be easily detected. The opponents of DNA databases, however, claim that such a course violated the society’s commitment to reform, especially with respect to juvenile offenders, and the presumption of innocence. They also fear that, with a centralized system, DNA data easily could get into the wrong hands.

[7.5] The major concern that most database critics have is that DNA database sampling statutes allow for the mass screening of individuals without individualized suspicion or probable cause. The general justification given to support such sampling is the notion that a class of certain convicted felons, are more likely to pose a danger to society than others. Critics claimed that such a justification undermined citizen’s protection against unreasonable searches and seizures.

[7.6] The issue arose in Donald E. Landry v. Attorney General (SJC-07899 & 07916) 429 Mass. 366, 709 – NE2d 1085-(1999) before the Massachusetts Supreme Judicial Court, whether involuntary taking of blood samples from the person in accordance with the provisions of the Act violated Fourth Amendment of the U.S. Constitution which protected the right of the people to be secured in their persons, houses, papers, and effects, against unreasonable searches and seizures, by providing that these shall not be violated and no warrants shall issue, except upon a probable cause, supported by oath or affirmation, and particularly describing the place to be searched, and the persons or things to be seized. The plaintiffs challenged the validity of a Massachusetts DNA database statute, which required involuntary collection of blood samples from all persons convicted of thirty-three different types of offenses. The given legislative purpose of the statute was to “assist local, state and federal criminal justice and law enforcement agencies in : (1) deterring and discovering crimes and recidivistic criminal activity; (2) identifying individuals for, and excluding individuals from, criminal investigation or prosecution; and (3) search for missing persons. The statute states and regulates the use of the database for primary criminal investigative purposes. The statute, however, also allows for the use of the database for other court proceedings and advancing other humanitarian purposes. The plaintiffs argued that the statute allowed for an unconstitutional search and seizure under both the Federal and State constitutions. The Massachusetts Superior Court agreed and issued a preliminary injunction against the statute. The Massachusetts Supreme Judicial Court however, disagreed with the lower court’s reasoning and reversed the decision.; holding that the Act did not violate the Fourth Amendment. It was observed : “There is no disagreement that the involuntary collection of a blood sample from a person designated to furnish one under the Act constitutes a “search and seizure” for purposes of the Fourth Amendment “.

[7.7] The premise for the above approach is that convicted persons unlike other citizens, have a diminished expectation of privacy in their identity. Once a person is convicted of a serious crime, his identity becomes a matter of state interest and he loses any legitimate expectation of privacy in the identifying information derived from the blood sampling. The courts using this analysis go on to examine the reasonableness of the search and seizure, and they have all concluded that the intrusion occasioned by a blood test is “not significant”, involving little risk or pain. The courts engage in a balancing test, weighing government’s strong interest in preserving an identification record of convicted persons for resolving past and future crimes against the minor intrusion into their diminished privacy right in their identities by the taking of a DNA sample. (See Jones v. Murray, 962 F.2d 302, 307.) The other approach used to justify taking of blood from convicted persons for DNA identification analysis is based on existence of “special needs beyond law enforcement”. In State v. Olivas , 122 Wash.2d 73, 98(1993) search & seizure for DNA was justified on the ground that the government has “special need”, “to prevent accidents and casualties in railroad operations that result from impairment of employees by alcohol or drugs”. Under this analysis, the establishment of a DNA data bank is considered a deterrent to recidivism on the part of convicted persons, and therefore, suspicionless blood testing is justified because it serves a special need beyond “normal” law enforcement.

[7.8] It is recognized that maintenance of fingerprint, photograph and arrest records serve an important law enforcement function. The arrest record serves as a means for identification and apprehension of criminals. The State has an established and indisputable interest in preserving a permanent identification record of convicted persons for resolving past and future crimes and uses fingerprints, and now will use DNA identification, for this recognized purpose. The balance of interest clearly weighs in favour of the use of DNA in accordance with the governing statute to create a record of identification. In Landry’s case, the Court held that, “….. While obtaining and analyzing the DNA under the Act is a search and seizure implicating Fourth Amendment concerns, it is a reasonable search and seizure. This is so in light of a convicted person’s diminished privacy rights ……. the minimal intrusion of ….. blood test; and the legitimate government interest in the investigation and prosecution of unsolved and future criminal acts by the use of DNA in a manner not significantly different from the use of fingerprints."

[7.9] In Robert Roe v. Ronald Marcotte, United States Court of Appeal for the Second Circuit, while considering the Public Act 94 – 246 of the Connecticut Legislature which provided that, any person who is convicted of a violation of the sections mentioned therein on or after October 1, 1994 and is sentenced to the custody of the Commissioner of Correction or has been convicted of a violation of the referenced sections and on October 1, 1994, is in the custody of the Commissioner of the Correction shall, prior to release from such custody, have a sample of his blood taken for DNA analysis to determine identification characteristics specific to the person; and further, any person convicted of a violation of the specified provisions on or after October 1, 1994, who is not sentenced to a term of confinement shall, as a condition of such sentence, have a sample of his blood taken for DNA analysis to determine identification characterists specific to the person. The plaintiffs were subject to the provisions of the statute because of their conviction of sex offences which were specified under the statute and their continued incarceration on or after October 1, 1994. The DNA statute was challenged as unconstitutional to the extent that it encompasses sexual offenders, whether or not their current imprisonment was predicated upon a sexual offence. The court concluded that a reasoned interpretation of “special needs” doctrine supports the constitutionality of the DNA statute. Dealing with the contention that the statute violated the equal protection clause because it impermissibly distinguishes between individuals convicted of crimes characterized as sexual offences and those convicted of other violent offences, the Court observed that the statute’s alleged “under inconclusiveness” did not provide a basis for invalidating it, and that, under rational basis review, legislature may proceed “one step at a time”. The Court held that the Statute did not violate the Equal Protection Clause.

[7.10] The Supreme Court of State of Kansas in State of Kansas v. James E.Maass (No.87, 918, March 7, 2003), in which James E.Maass appealed from the District Court’s order requiring that specimens of his blood and saliva be submitted to the Kansas Bureau of Investigation, contending that the court lacked statutory authority to enter the order or, in the alternative, that the application of KSA 2001 SUPP. 21-2511 in his case was unconstitutional, held that the said provision did not constitute an unreasonable infringement upon the defendants’ right of privacy or constitutional protection from an unreasonable search and seizure; and that, the District Court’s order requiring blood and saliva specimens did not infringe upon Maass’ right of privacy or constitute an unreasonable search and seizure. The Court held that the provisions were constitutional, as the minimally intrusive nature of providing blood and saliva samples was significantly outweighed by the State’s interest in establishing and maintaining a state-wide automated DNA database to search, match and store DNA records.

[7.11] In India, right of privacy has been culled out of the provisions of Article 21 of the Constitution and other provisions relating to the fundamental rights read with the Directive Principles of State policy. India is a signatory to the International Covenant of Civil and Political Rights, 1966. Referring to Article 17 of that Covenant and Article 12 of the Universal Declaration of the Human Rights, 1948, the Supreme Court in People’s Union for Civil Liberties (PUCL) v. Union of India, (1997)1 SCC 301, held that, the right to privacy is a part of right to “life” and “personal liberty” enshrined under Article 21 of the Constitution, and it cannot be curtailed except according to the procedure established by law. In M.P.Sharma v. Satish Chandra, AIR 1954 SC 300, it was observed that a power of search and seizure is in any system of jurisprudence an overriding power of the State for the protection of social security and that power is necessarily regulated by law. The Court observed that when the constitution-makers have thought fit not to subject such regulation to constitutional limitations by recognition of a fundamental right to privacy, analogous to the American Fourth Amendment, “we have no justification to import it into a totally different fundamental right, by some process of strained construction.”. Nor is it legitimate to assume that the constitutional protection under Article 20(3) (right against self-incrimination) would be defeated by the statutory provisions for searches. However, the right to privacy was more specifically in issue in the context of disclosure of the outcome of the blood test in Mr.”X” v. Hospital “Z”, reported in (1998)8 SCC 296, in which the appellant’s blood sample was tested and he was found to be HIV positive which resulted in the appellant’s proposed marriage being called off. The Supreme Court held that the right to privacy has been culled out of the provisions of Article 21 and other provisions of the Constitution. However, the right was not absolute and may be lawfully restricted for prevention of crime, disorder or protection of health or morals or protection of rights and freedom of others. It was held that, having regard to the fact that the appellant was found to be HIV (+), its disclosure would not be violative of either the rule of confidentiality or the appellant’s right of privacy as “A”, whom the appellant was likely to marry, was saved in time by the disclosure, otherwise, she too would have been infected with the dreadful disease if the marriage had taken place and consummated. Once the law provides “venereal disease” as a ground for divorce to either husband or wife, such a person who was suffering from that disease, even prior to the marriage cannot be said to have any right to marry so long as he is not fully cured of the disease.

[7.12] Statutes such as Part 1D of the Crimes Act, 1914 (Cth) provide for establishing database system, offences in relation to the DNA database system, the protection of information stored in the DNA database system and the destruction of the forensic material. These provisions can be studied for devising similar provisions in respect of forensic procedures to be adopted for a database system in the Indian context.

[8]   Genetic Privacy

DNA sampling involves intrusion into three forms of individual privacy: bodily privacy in cases where the sample is taken from a person’s body; genetic privacy, where predictive health and other information about the person is obtained from the sample; and behavioural privacy where the information is used to determine where a person has been and what he has done. Moreover, DNA sampling may also impinge on familial privacy where information obtained from one person’s sample provides information regarding his or her relatives. Privacy and respect for human dignity need not be abandoned when balancing civil liberties with the larger interests of the community. Formulation of sound privacy principles can enhance the integrity and legitimacy of DNA profiling. The privacy principles with a statutory backing would bring about transparency and accountability and would reassure the community that what is sacrificed for greater safety and security is done so legitimately. In Australia, there is a comprehensive privacy law covering private sector, (The Privacy Act, 1988 as amended by the Privacy Amendment (Private Sector) Act, 2000).

[8.1] The power and potential of genetics rests in the knowledge it provides, thereby raising concerns about privacy and confidentiality in various situations. The personal information contained within the genetic tissue is more important than the tissue itself. The information gained from increased genetic knowledge will be of greatest interest to the affected individuals as well as to family members, employees, schools, insurers, medical and legal institutions. Genetic privacy would be an important constitutional issue arising in different contexts of individual’s legal rights. The challenging task will be of striking a proper balance between privacy concerns and the fair use of genetic information.

[8.2] Confidentiality even when carefully protected by researchers can be no substitute for an informed consent of individuals whose DNA sample is studied by researchers. Informed consent is seen as a strong and important way for individuals to exercise their privacy rights. The policy question for all authorities deliberating in the Gene Age is how to make laws which assure consumers of healthcare that their personal privacy is maintained and that their genetic information is not used against them, but at the same time, to encourage the advancement of genetic research for improving the standards of human health and the quality of life. An individuals genetic information and DNA sample are the property of an individual except when the information or sample is used in an anonymous research in which the identity of the person from whom the sample is collected cannot be determined.

[8.3] Special privacy protections are needed to be developed by law because (i) genetic test results can be used to predict future health risks that might be of interest to insurers or employers, (ii) genetic test results apply to a whole family and therefore, are of interest to others, besides the individual patient, and (iii) information from a genetic test can be kept in many different places and under conditions over which an individual has no control.

[8.4] A Genetic Privacy Act, therefore, should address to the following questions : Who can collect genetic information? Who can retain genetic information, and how long? Who can disclose genetic information and under what conditions? There should be a privacy statute preventing any person from obtaining genetic information from any individual, or from an individuals DNA sample, without first obtaining informed consent of the individual or the individual’s representative. The statute may provide exceptions to the requirement or informed consent in the following circumstances: (i) in the case of certain law enforcement and legal proceedings; (ii) for anonymous research; (iii) for identification of deceased individuals such as in mass disasters, due to earthquakes, flood furies or terrorist activities; (iv) for newborn screening procedures; (v) for the purpose of establishing patenting under court orders.

[8.5] The genetic privacy statute should prohibit employers from obtaining, seeking to obtain or using genetic information to discriminate against or restrict any right or benefit otherwise due or available to an employee or a prospective employee and make it as unlawful employment practice for an employer to require an employee or prospective employee to take a genetic test. Procedures for obtaining informed consent should be specified. If health insurers ask an applicant to take a genetic test, they must obtain the authorization of the applicant for the test and they cannot use the results of the test to either induce or discriminate against the person in providing him or her with insurance.

[8.6] In determining whether taking of body samples is justified in all circumstances the statute may cast a duty upon the police officer to balance the public interest in obtaining evidence tending to confirm or disprove that the suspect committed the offence concerned against the public interest in upholding the physical integrity of the suspect. In balancing those interests, consideration of the following matters would be relevant:- (i) the extent to which the suspect may have participated in the commission of the crime; (ii) the gravity of the offence and the circumstances in which it is committed; (iii) age, physical and mental health and cultural background of the suspect to the extent they are known; (iv) whether there is less intrusive and practical way of collecting evidence tending to confirm or disprove the involvement of the suspect in the crime; (v) the reasons, if any, for the suspect for refusing consent. A police officer may ask the suspect (other than a child or incapable person) to consent to a forensic procedure if he is satisfied on the balance of probabilities that : the person is a suspect, that there are reasonable grounds to believe that the obtaining of the DNA sample of the suspect is likely to produce evidence tending to confirm or disprove that the suspect committed a relevant offence, that the request for consent is justified in all the circumstances, and that the suspect is not a child or an incapable person. (Forensic Procedures can be devised on the lines of Part 1D of the Crimes Act, 1914 (Cth); See various legislations referred in paragraphs 39.17 to 39.58 – Part J “Forensic Uses of Genetic Information” of the Report of the ALRC – “Essentially Yours: The Protection of Human Genetic Information in Australia”; See also Oregon Genetic Privacy Act.).

[9]   Protection of Human Genetic Information

The Australian Law Reforms Commission recently published the results of the inquiry conducted jointly with NHMRC’s Australian Health Ethics Committee, “Essentially Yours: The Protection of Human Genetic Information in Australia, a two volume, 12,00 page report, containing 144 recommendations about how to deal with ethical, legal and social implications of the “New Genetics”. The report covers a wide range of areas, including human genetic research and genetic databases, genetic privacy and discrimination, and regulating the use of genetic testing and information in employment, insurance, immigration, parentage testing, sport and other contexts. The report has been described as “an extraordinary accomplishment”, providing a “world -leading platform for policy development”. It is a comprehensive and instrumental report producing a number of welcome recommendations. The following are the main recommendations made by the A.L.R.C. Final Report :

                (i) The establishment of a standing Human Genetics Commission of Australia (HGCA) to provide high-level, technical and strategic advice about current and emerging issues in human genetics, as well as providing a consultative mechanism for the development of policy statements and national guidelines in this area.

                (ii) Discrimination laws should be amended to prohibit discrimination based on a person’s real or perceived genetic status.

                (iii) Privacy laws should be harmonized and tailored to address the particular challenges of human genetic information, including extending protection to genetic samples, and acknowledging the familial dimension of genetic information. For example, doctors might be authorized to disclose confidential information to a genetic relative where it is necessary to avert a serious threat to an individual’s life, health, or safety.

                (iv) Ethical oversight of genetic research should be strengthened by: ensuring that all genetic research complies with National Health and Medical Research Council, (NHMRC) Standards; better supporting Human Research Ethics Committees; providing more guidance to researchers and research participants about best practice; developing new rules to govern the operation of human genetic research databases; and tightening reporting requirements.

                (v) Employers should not be permitted to collect or use genetic information except in those rare circumstances where this is permitted under anti-discrimination laws or is necessary to protect the health and safety of workers or third parties, and the action complies with stringent HGCA standards.

                (vi) The insurance industry should be required to adopt a range of improved consumer protection policies and practices with respect to its use of genetic information (including family history) for underwriting purposes. New laws and practices should ensure that: genetic information is only used in a scientifically reliable and actuarially sound manner; reasons are provided for any unfavourable underwriting decision; industry complaints-handling processes are strengthened and extended to cover underwriting decisions; and industry education and training about genetics are improved.

                (vii) A new criminal offence should be created to prohibit someone submitting another person’s sample for genetic testing knowing that this is done without consent or other lawful authority (e.g. a court order, or the statutory authority given to police officers).

                (viii) Lack of harmonization is threatening the effectiveness of any national approach to sharing DNA information for law enforcement purposes. The governments should develop national minimum standards for the collection, use, storage, destruction and matching of DNA samples and profiles. No inter-jurisdictional sharing of information should be permitted except in accordance with these minimum standards.

                (ix) DNA parentage testing should be conducted only with the consent of each person sampled, or pursuant to a court order. Where a child is unable to make an informed decision, testing should proceed only with the consent of both parents, or a court order.

[10]   Bioethics

[10.1] By far the biggest public concern recently has come with new developments in the life sciences, - especially cloning and genetically modified organism. Some of the ethical issues have been exaggerated, but the following deserve serious reflection: (i) the potential to misuse genetic information about individuals (ii) the question of who owns genes and genetic code (iii) the implications of patenting knowledge that traditionally has been shared (iv) the acceptability of cloning human beings for reproductive or other purposes (v) the acceptability of transferring genes from one animal species to another (vi) the safety of genetically-modified organisms, both in terms of the environment and the consumer, including reduced biodiversity.

[10.2] Science has raised ethical questions before. The most obvious case being the applications of atomic energy. But whereas atomic energy was shrouded by military secrecy, the recent developments in the life and health sciences are very much in the public arena. The fact that there is a public outcry is as important as whether or not it is justified. It proves that scientists cannot do whatever they want, and are accountable – at least in a society based on democratic principles. “The behavior of the scientific community in general is positive”, says UNESCO Director-General, Federico Mayor, “and I think they deserve trust”. But, he says, it is the task of ethics to draw the line between what is possible and what is acceptable. This can be done neither by science nor by technology. To draw this line, he set up a 55-member International Bioethics Committee (IBC) in 1993, which, after four years of meetings and public debates, drafted a Universal declaration on the Human Genome and Human Rights – the first in the field of genetics within the United Nations System. Although the Declaration is not binding, it represents a moral commitment of all Member States to adhere to a coherent set of principles in the field of genetics. Articles 5 – 9 of the Declaration make provision to protect the rights of the individual regarding research or treatment that may affect his or her genome, as well as the confidentiality of genetic information, in the conditions set by law. Article 17 encourages the practice of solidarity towards individuals, families and population groups who are particularly vulnerable to or affected by disease or disability of a genetic character. These articles are intended to protect against eugenic practices. (Science for the 21st century – A New Commitment “The possible and the acceptable – ethics in science”, - UNESCO’s Office of Public Information).

[10.3] Research on embryonic stem cells is one of the most controversial issues today. Such research should in the future make it possible to create organs and tissue, of which there is currently a severe shortage, for transplantation purposes. Spectacular progress is expected in the dealing with diseases which are currently either difficult or impossible to treat (such as Parikinson’s, Alzheimer’s, multiple sclerosis etc.). But the fact that these stem cells mainly come from human embryos, raises the question of whether we should create embryos for the sole purpose of facilitating research. Opinions on the subject of embryonic stem cells differ widely. As the Report of UNESCO’s International Bioethics Committee (IBC), The Use of Embryonic Stem Cells in Therapeutic Research makes clear: “The ethical legitimacy of performing human embryonic stem cell research depends, in large measure, on the status which is attributed to embryo.

[10.4] The prospect of human cloning is sparking intense debate. Some still warn that cloning for reproductive purposes will be conducted, despite the fact that it has been banned both by UNESCO’s Universal Declaration on the Human Genome and Human Rights (1997), which describes cloning as contrary to human dignity (Art.11), and by legislation in many countries. Although the international community has already rejected human cloning for reproductive purposes as an unacceptable instrumentalisation of the human being, questions remain regarding therapeutic cloning. With the progress of genetics, a new type of diagnosis, which also presents a threat, has come to light: pre-implantation genetic diagnosis. Such diagnosis – currently restricted for the detection of serious diseases – may yet be used for eugenics, in other words, for the selection of individuals. It may become very tempting to use this diagnosis technique for enhancement purposes or to select certain physical characteristics. The collection, treatment, storage and use of genetic data raise a host of ethical questions. UNESCO is considering an international instrument on genetic data and the IBC – which has published a report on genetic data – has examined several of its aspects: the aim of the collection; informing sample donors; free and informed consent on the part of donors; regard for the particular sensitivities of particular social, religious and ethnic groups regarding human tissue; precautions which must be taken when conducting genetic tests, such as parentage testing, considering their implications for the people tested and others; the confidentiality; and fate of the samples.. Some of the problems concerning genetic data, such as confidentiality and consent, can already be found – sometimes under different names – in conventional medical practice. As far as human organ and tissue donations are concerned, the field of bioethics is expanding. This field has been facing major questions for some time. Notably: How to avoid the emergence of trafficking in human organs – such as kidneys, liver and pancreas – or of human tissue – cornea or bone marrow etc. – for which there is a strong demand. Genetics now raise new questions, about, notably, the use of x enotransplantation (the transplantation of genetically engineered animal organs into a human body) and genetic engineering in stockbreeding as a potential source of organs which are compatible with the human body. The life sciences are constantly adding to these already numerous and often intertwined ethical quandaries and this is why UNESCO has chosen the Ethics of Science and Technology as one of its five major priorities in its Medium – Term Strategy for 2002 – 2007. (From UNESCO Press Release – “Challenges of Bioethics”).

[10.5] In a short but interesting article “Religion, genetics and the embryo” of Sophie Boukhari, UNESCO Courier journalist, an array of responses to the bioethical questions posed by genetic technologies, by Catholics, Protestants, Buddhists, Muslims and Jews are referred. “Although religious practice may be declining”, says French geneticist and Member of Parliament Jean Francois Mattei, “the metaphysical issue is still at the core of the questions raised about genetic engineering, either by tradition, culture or duty.” Should a person have recourse to prenatal screening and consider having an abortion if a serious genetic defect is discovered? Should research on embryos, gene therapy and cloning be allowed? All the “religions of the Book” (Christianity, Judaism and Islam) believe that the answers to these questions largely depend on the status of the embryo. The frontier between “good” and “bad” genetic engineering depends on whether or not the embryo is considered to be “animate”. “If the embryo has soul, then it is endowed with a human as well as a biological life and any attack on its integrity is seen as a crime”, says French Geneticist Rene Frydman.

[10.5.1] Jews allow experiments with embryos, especially if they have no chance of surviving. Judaism also does not rule out cloning, says French Theologian and Jurist Raphael Brai; “If cloning is done for the therapeutic reasons, the matter has to be discussed with other people. Several religious notions clash at this point. For example, the oneness of the human person and the duty to heal oneself.” But cloning for reproductive reasons is not allowed, with few exceptions.

[10.5.2] Protestant Christians are generally more open to advances in genetics. They stress free will and regard each case on its merits, leaving the decision to the couple involved.

[10.5.3] Buddhists are even less dogmatic because they believe all truth is relative. A French expert in Buddhism, Raphael Liogier, notes that “the only ethical limit is suffering, for Buddha is primarily a healer”. The Dalai Lama, leader of Tibet’s Buddhists, says what mainly has to be taken into account are “the good effects and bad effects of genetic engineering”. He agrees that it can be used to “improve the human body – the brain, for example.” “The body is only a vehicle for karma [the ethical consequences of a person’s actions that determine their destiny in their next incarnation]”, says Liogier.

[10.5.4] Most important of all, while all the major religions generally believe human life and dignity should be respected, the Church of Rome is the only religion that considers the embryo “as a human being from the moment of conception”, and it sticks firmly to this doctrine. The Vatican is against both the reproductive and therapeutic cloning on the grounds that it violates the “unified totality” of the human person and the sacred link between sexuality and procreation.

[10.5.5] H’mida Ennaifer, of the Higher Institute of Theology in Tunis, says “Islamic jurists all condemn abortion after the foetus has received the breath of life. Some Malekites condemn it even when the child is less than 40 days old while other schools of thought allow it during the first four months of pregnancy.” Islam also allows gene therapy on the human body, but in general it proscribes the modification of germ-cells and bans anything which denies the notion of divine creation, starting with cloning. However, a minority of jurists regard cloning as sometimes preferable to “genetic adultery” because it respects the line of descent by avoiding a situation where a sterile couple uses sperm or eggs from a donor in artificial insemination.

[10.6] As noted above, the provisions of the Universal Declaration on the Human Genome and Human Rights explicitly outlaw human cloning for reproductive purposes, as contrary to human dignity. Human dignity, inherent to each individual, excludes all practices which tend towards the `reification’ of an individual or his or her `instrumentalisation’. In other words, a human being is a subject, not an object, for science. Several countries, including United Kingdom, United States of America, Canada, Germany, have laws or are drafting laws banning human reproductive cloning.

[10.7] It is now technically feasible to take a gene from one species and make it part of the genome (genetic `blueprint’) of another species. A toxin-producing gene from a bacterium can be added to corn to make it pest-resistant. The gene that makes a firefly glow at night can be added to a plant’s DNA to make the leaves light up when the crop is ripe. A cow can be `engineered’ to produce a drug in its milk. Human genes can be added to a pig’s genome so that it grows organs for transplantation to man without being rejected by the patient. In general, the creation and release of genetically modified organisms (GMOs) raises a different type of issue – biosafety. There is a risk that a transgenic plant will cross-pollinate a natural variety and produce mutations with unknown results. Large scale planting of pest-resistant biotechnological plants exposes the pest to the toxin on a scale unknown before. This can give insects and viruses a much greater imperative to become resistant – otherwise the species might die out. Organic farmers are afraid that a new strain of toxin-resistant insect would wipe out their crops. “On the other hand, an insect-free environment is also likely to be a bird-free environment.” (See Science for the 21st Century – A New Commitment “The possible and acceptable – ethics in science”– UNESCO’s O.P.I.).

[11]   Human Enhancement

The most controversial issue regarding biotechnology is the prospect of employing it for the purpose of human enhancement. The distinction between enhancement and therapy is linked to the distinction between health and disease. A therapeutic modification is one that brings a trait that was below a recognizable, species-wide norm up to that norm. The term “trait” is meant, in its broadest sense, to include physical attributes, mental or physical abilities, dispositions, and capabilities. While it is true that therapeutic modifications attempt to treat disease whereas enhancement modifications attempt to improve a trait that is not diseased, there can be considerable debate over whether a particular modification constitutes an enhancement and why. Ethical issues regarding enhancement modification should then be seen in terms of the ethics of medicine and the professional duties and responsibilities of health professionals. There are modifications that, strictly speaking, are enhancements, but whose purpose is to respond to the threat of a disease. For example, a modification that improves people’s resistance to particular diseases beyond the normal capacity would count as an enhancement but its purpose would be disease prevention and so arguably therapeutic. There could be modifications that raise a trait from one point within the normal range of that trait to a higher point in that range. This suggests that the classification of modifications should be tripartite: therapeutic, (proper) enhancement, and intra-normal. Cosmetic surgeries, which can often be regarded as intra-normal modifications, are thus placed in the same category as genetic modifications to create superpeople. Biotechnology covers a range of technologies and procedures, many of which could conceivably be employed for enhancement. Drugs could be designed to interact with the body’s chemistry in such a way as to alter behaviour, biological functioning, structure, or affect them. Even without introducing drugs, special procedures – such as transfusing persons with their own blood or “blood doping” – can affect traits or behavior. But the most discussed enhancement technology is one in which a person’s genome is altered. While a popular image of genetic enhancements is that of some magic-wand transformation in which the person is a passive recipient, the matter can be more complex. The object of a somatic modification is a modified individual, but the object of a germline modification is a modification that becomes part of the individual’s legacy or inheritance. Somatic enhancements are simpler as far as ethics and public policy is concerned. It is considered that using biotechnology to effect an improvement is wrong because it is artificial. There is also a concern that, using biotechnology in order to effect an improvement undermines the value of the improvement. The value we place on certain achievements may depend upon the struggle and effort required to achieve them. If they could be made effortless – at least on the part of the individual – and common, we might well cease to value them. It is also suggested that, using biotechnology to enhance people is not the sort of thing physicians should do because the values or aims of the medical profession are held to be incompatible with performing enhancements. This view however leaves ethics of enhancements untouched. (See “Human Enhancement Uses of Biotechnology”: Overview by Robert Wachbroit – Encyclopedia of Ethical, Legal and Policy Issues in Biotechnology – Wiley Reference Works).

[12]   Genetic Weapons

Scientists have warned that recent advances in biological research could eventually lead to the creation of a new type of biological arsenal capable of targeting a specific group of human beings with common genetic characteristics, as may be the case with certain ethnic groups. “It will unfortunately be possible to design biological weapons of this type when more information on genome research is available,” says Dr. Vivienne Nathanson, head of science and health policy at the British Medical Association (BMA). Malcom R. Dando, Professor of Peace Studies at Bradford University, England, in his Report “Biotechnology, Weapons and Humanity”, which he wrote for the BMA, examined the questions of how the revolution in biotechnology might be used to attack the genetic constitution of an ethnic group. Prof. Dando says the world community is already struggling to eliminate existing biological weapons, which carry agents spreading deadly diseases like anthrax and other lethal toxins, and can devastate human beings without causing damage to buildings or infrastructure. A few hundred kilograms of a “weaponized” bacterial preparation has the potential to wipe out up to three million inhabitants concentrated in a city like New York. In the past, however, countries have rarely used such biological weapons in warfare, because of their fear of eliminating friendly populations and killing their own combatants. The problem of the proliferation of biological weapon research has been aggravated by fall-out from the collapse of the former Soviet Union. Most of the nearly 30,000 scientists who were involved in biological research in the USSR during the 1980s were out of job because of the country’s economic difficulties. Such scientists could be engaged by terrorists or cult groups for acquiring biological weapons which may be used by them irresponsibly having regard to the nature of their goals. The professional scientists and physicians should shoulder their ethical responsibilities and take no part in biological and genetic weapon projects. There is also a growing concern about the misuse of genetic information available on internet. Scientists worldwide share information on new findings in biological research through internet which could be manipulated by private groups. Internet service providers are under an ethical obligation to ensure that information on biological weapons is not made available on their websites (See “Genetic Weapons : A Twenty-First Century Nightmare”, by Ethirajan Anbarasan).

[13]   DNA Parentage Testing

[13.1] Parentage testing refers to testing done to confirm or deny biological parentage of a particular child or individual. Such testing may be conducted by blood group or DNA analysis. DNA parentage testing may exclude a person as the biological parent of a child with certainty but it cannot prove absolutely that a person is the child’s biological parent. The test result can, however, provide a probability that a person is the biological parent of a child and, if that probability is sufficiently high, an inference of parentage may be confidently drawn. (See ALRC Discussion Paper66– Protection of Human Genetic Information – DNA Parentage Testing). Parentage testing is relationship testing and requires participation of two, sometimes three individuals in order to reveal useful information about biological relationship between those persons. The context in which outcome of parentage testing is revealed is often highly emotionally charged. Where parentage has been misattributed, there may arise issues of “betrayal, revenge, truth and the search for resolution” for many years. This raises the question whether law should emphasize biological parentage over social parentage in matters of parental responsibility, guardianship and maintenance, succession and so on.

[13.2] To determine child’s parentage, there are statutory presumptions, such as, under Section 112 of the Indian Evidence Act, that the fact that any person was born during the continuance of a valid marriage between his / her mother and any man, or within two hundred and eighty days after its dissolution, the mother remaining unmarried, shall be conclusive proof that he is the legitimate child of that man, unless it can be shown that the parties had no access to each other at any time when that child could have been begotten.

[13.3] DNA parentage testing may be used to rebut a presumption arising under the Act, or to establish evidence in the circumstances where no presumption arises. A man might seek DNA parentage testing in order to obtain evidence of non-paternity for the purpose of civil proceedings against the child’s mother to prove “paternity fraud” and claim damages for emotional stress and financial loss that he suffered due to such fraud. DNA parentage testing may provide evidence to show that a person has a biological connection with a deceased person and can be a proof in support of a succession claim. In mass disasters, such as, aeroplane crashes and the World Trade Centre collapse, DNA parentage and relationship testing is increasingly used in identifying human remains where the body of the deceased is no longer recognizable.

[13.4] The scientific accuracy of parentage testing is of vital importance, whether it is conducted by accredited or unaccredited laboratories. In a case where the family court ordered a man to undergo DNA parentage testing in relation to a child of whom he claimed to have no knowledge, the test result disclosed a 98.5% probability that he was the father of the child and was required to pay maintenance for the child, years later, the man’s brother admitted having had a relationship with the child’s mother, and parentage testing showed a 99.5% probability that the brother was the child’s father (This case was reported in G. Bearup, “The Doubt about Dad”, The Good Weekend (The Sydney Morning Herald), 3rd November 2001, 16, 20, and is referred in paragraph 31.42 of the ALRC Discussion Paper 66). The social, psychological and economic consequences of unreliable testing point towards an imperative need to maintain the highest technical, scientific and professional standards in conducting parentage testing. It is suggested that parentage testing be done under supervision of courts to ensure both the accuracy and reliability of the evidence admitted. Possibility of `DNA fraud’ by laboratory staff in such tests is a matter of grave concern and there should be a proper mechanism to address issues arising from the test results and for safeguarding and protecting the integrity of samples against tampering or deliberate fraud. The option of using court supervision would make parentage testing subject to a court order and would enable the courts to provide independent oversight of testing, including in relation to the validity of consent.

[13.5] Legislation should be enacted to ensure that DNA parentage testing in India is conducted only by government recognized laboratories in accordance with the regulatory requirements that may be statutorily laid down. Family Courts Act should be amended to provide a special chapter dealing with DNA parentage testing and adequate provisions should be made thereunder to ensure that parentage testing meet the highest technical and ethical standards, particularly in relation to consent to testing, protecting the integrity of genetic samples, and providing counseling. The parentage testing reports should be admissible in evidence only if made in accordance with the statutory requirements.

[13.6] Law should recognize a child’s right to give or withhold consent to the testing of his or her own genetic sample where the child has acquired sufficient maturity and understanding, of the process and its implications to safeguard his or her own interest. Legislation should provide for enabling a child above 12 years of age and having sufficient maturity to make a free and informed decision whether to submit a genetic sample for parentage testing. Paramount consideration should, however, in all events be the welfare of the child concerned.

[14]   Genetic Discrimination

One ethical issue on the genetic horizon that has already begun to take focus is genetic discrimination. It is thought that, with the identification of all the genes in the human genomes that either condition or in some case cause disease accompanied by an availability of inexpensive methods of testing the genome of each individual, a person’s individual genome would become part of a databank, one side of which would be proper medical care from birth to grave and even cure of genetically based diseases, while the other, the problems starting with insurability, and ending up in form of discrimination that for genetic reasons would prevent certain individuals from obtaining employment and, even medical services. Once the genetic disorders of individual become known, it could justify higher premiums by the insurance company. The greater the risk the higher the premium. Insurance may even be denied to those whose genes predict extended or expensive medical treatment. The existing state of computer linkage would make it difficult to prevent the movement of data from hospital to insurance carrier and to anyone else intending to find it out. One of the most important factors is the principle that genome information should not ultimately be restricted and the more we know, the better the health care planning can be. But this is contingent on whether we can have information without discrimination. The current structure seems to make it profitable for employers and insurance carriers to discriminate against individuals with certain genetic configurations, that is, it is in their best financial interest to limit or even deny health care. A restructuring is called for so that it becomes profitable to deliver, not withhold healthcare. To accomplish this the whole nation will have to become more egalitarian – that is, to think of the nation itself as a single community willing to care for its own constituents.

[15]   Universal Declaration on the Human Genome and Human Rights, 1997

[15.1] The Universal declaration on the Human Genome and Human Rights, adopted unanimously and by acclamation by the General Conference of UNESCO at its 29th session on 11 November 1997, is the first universal instrument in the field of biology. The uncontested merit of this text resides in the balance it strikes between safeguarding respect for human rights and fundamental freedoms and the need to ensure freedom of research. The moral commitment entered into by States in adopting the Universal Declaration on the Human Genome and Human Rights is a starting point, the beginning of international awareness of the need for ethical issues to be addressed in science and technology, and it is now upto States, through the measures they decide to adopt, to put the Declaration into practice and thus ensure its continued existence.

[15.2] The Declaration is without prejudice to the international instruments which could have a bearing on the applications of genetics in the field of intellectual property. The Declaration recognizes that research on the human genome and the resulting applications open up vast prospects for progress in improving the health of individuals and of humankind as a whole, emphasizing that such research should fully respect human dignity, freedom and human rights, as well as the prohibition of all forms of discrimination based on genetic characteristics.

[15.3] Articles 1 to 4 emphasize the importance of human dignity and it is declared that human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity, which in a symbolic sense is the heritage of humanity. Everyone has a right to respect for their dignity and for their rights regardless of their genetic characteristics. Human dignity makes it imperative not to reduce individuals to their genetic characteristics and to respect their uniqueness and diversity. It is declared that the human genome which by its nature evolves is subject to mutations and contains potentialities that are expressed differently according to each individuals natural and social environment including the individual’s state of health, living conditions, nutrition and education. It is further declared that human genome in its natural state shall not give rise to financial gains.

[15.4] Part B of the Declaration, in Articles 5 to 9, deals with the rights of persons concerned. Article 5 provides that research treatment or diagnosis affecting an individual’s genome shall be undertaken only after rigorous and prior assessment of the potential risks and benefits pertaining thereto and in accordance with any other requirement of national law, and further provides that, in all cases, the prior, free and informed consent of the person concerned shall be obtained. If such person is not in a position to consent, consent or authorization shall be obtained in the manner prescribed by law, guided by the person’s best interest. Right of each individual to decide whether or not to be informed of the results of genetic examination and its consequences should be respected. If a person does not have the legal capacity to consent, research affecting such person’s genome may only be carried out for direct health benefit of such person subject to the authorization and the protective conditions prescribed by law. Article 6 shuns discrimination based on genetic characteristics that has the effect of infringing human rights, human dignity and fundamental freedoms. Genetic data associated with identifiable person and stored or processed for the purposes of research or any other purpose is required to be held confidential in the conditions set by law. Every individual shall have the right, according to international and national law, to just reparation for any damage sustained as a direct and determining result of an intervention affecting his or her genome. In order to protect human rights and fundamental freedoms, limitations to the principles of consent and confidentiality may only be prescribed by law, for compelling reasons within the bounds of public international law and the international law of human rights.

[15.5] Articles 10, 11 and 12 deal with research on the human genome and provide that, no research or research application concerning the human genome, in particular, in the fields of biology, genetics and medicine, should prevail over respect for the human rights, fundamental freedoms and the human dignity of individuals or, where applicable, of groups of people. Practices which are contrary to human dignity, such as, re-productive cloning of human beings shall not be permitted, as declared by Article 11, which exhorts States and competent international organization to cooperate in identifying such practices and in taking, at national or international level, the measures necessary to ensure that the principles set out in the Declaration are respected. Benefits from advances in biology, genetics and medicines concerning the human genome, are required to be made available to all, with due regard for the dignity and human rights of each individual. Freedom of research, which is necessary for the progress of knowledge, is considered to be a part of freedom of thought. The applications of research, including the applications in biology, genetics and medicines, concerning the human genome, shall seek to offer relief from suffering and improve the health of individuals and humankind as a whole, as declared in Article 12(b).

[15.6] Articles 13 to 16 are grouped under the head “Conditions for the exercise of scientific activity”, highlighting responsibility inherent in the activities of researchers, including meticulousness, caution, intellectual honesty and integrity in carrying out their research on the human genome because of its ethical and social implications. The provisions require the States to take appropriate measures to foster the intellectual and material conditions favourable to freedom in the conduct of research on the human genome and to consider the ethical, legal, social and economic implications of such research, on the basis of the principles set out in this Declaration and expects the States to ensure that research results are not used for non-peaceful purposes. The establishment of ethics committees to assess ethical, legal and social issues raised by research on human genome and its application are to merit the attention of the States.

[15.7] Articles 17 to 19 lay emphasis on solidarity and international cooperation towards individuals, families and sections in the world’s population vulnerable to disease or disability of a genetic character and fostering scientific and cultural cooperation between industrialized and developing countries.

[15.8] For promotion of the principles set out in the Declaration, Article 20 makes it obligatory on the States to take appropriate measures to promote the principles through education and relevant means, inter alia, to the conduct of research and training in inter-disciplinary fields and through the promotion of education in bioethics, at all levels, in particular for those responsible for science policies. Article 21 provides that the States should take appropriate measures to encourage other forms of research, training, and information dissemination conducive to raising the awareness of society and all of its members of their responsibilities regarding the fundamental issues relating to the defence of human dignity which may be raised by research in biology, in genetics and in medicine, and its applications. They should undertake to facilitate on this subject an open international discussion, ensuring the free expression of various socio-cultural, religious and philosophical opinions. The States are expected to take appropriate measures to promote through education, training and information dissemination, respect for the principles set out in the Declaration and the International Bioethics Committee of the UNESCO is also expected to contribute to the dissemination of these principles, under Articles 23 and 24.

[16]   Gene Patents

[16.1] Genetic Science and related technologies are important in medical research and in the development and provision of healthcare, and, their significance for human health is likely to increase as more becomes known about the biological functions of genes and the proteins they produce.

[16.2] Human genetic research aims to enhance understanding of how genes and environmental factors operate and interact to influence the health of individuals and populations – and in so doing, to generate knowledge with the potential to improve individual and community health. Human genetic research may translate into the development and provision of new forms of healthcare involving, among other things, medical genetic testing, pharmacogenetics, gene therapy, and the use of therapeutic proteins or stem cells. There are many ways in which the potential subject matter of gene patents might usefully be categorized. The potential subject matter of gene patents can be grouped into the following four broad categories:-
(i) Genetic technologies – The methods and items used in genetic research and genetics – based healthcare, including those used in sequencing DNA, medical genetic testing, other diagnostic uses and gene therapy;
(ii) Natural genetic materials – Forms of genetic material in their natural state, including DNA, RNA, genes and chromosomes;
(iii) Isolated genetic materials – Forms of genetic material isolated from nature, including genetic materials of whole genomes, single genes and gene fragments;
(iv) Genetic products – Item produced by the use of genetic materials, including proteins, nucleic acid probes, nucleic acid constructs such as vectors and plasmids, and anti-sense DNA.
[See ALRC Issue Paper 27, Intellectual Property Rights over Genetic Materials….].

[16.3] Patenting of new and improved genetic technologies would ordinarily be the least controversial area of gene patenting, since the issues of “invention”, “novelty” and “usefulness” are clearer than they are in case of patents over genetic materials. There is a distinction between a gene or a gene fragment in situ i.e. in the human body or another organism and a gene or gene fragment that has been extracted from the body by a process of isolation and purification. In general, raw products of nature are not patentable. DNA products usually become patentable when they have been isolated, purified, or modified to produce a unique form not found in nature. (See Human Genome Project, “Patenting Genes, Gene Fragments, SNPs, Gene Test, Proteins and Stem Cells, U.S. Department of Energy”, 17th June 2003). While isolated genetic material will be patentable, genetic materials in their natural state usually are not. Natural genetic materials include genetic materials in living cells, such as, stem cells. Claims must be formulated so as to clearly distinguish what is claimed to be patented from the naturally occurring molecule. While naturally occurring (e.g. as embryonic stem cells), stem cells may be patentable when isolated and propagated to produce a “cell line”. Genetic materials include living cells that have been modified by genetic manipulation – such as, in gene therapy. The Human Genome Project has noted that therapeutic cloning, also called “embryo cloning” or “cloning for biomedical research” is the production of human embryos for use in research. The goal of this process is not to create cloned human beings but rather to harvest stem cells that can be used to study human development and treat disease. Stem cells are important to biomedical researchers because they can be used to generate virtually any type of specialized cell in the human body”. (See Human Genome Project, “Patenting Genes, Gene Fragments …” U.S. Dept. of Energy).

[16.4] The question as to whether a live human – made micro – organism is patentable subject matter under the U.S. law, Title 35 U.S.C, 101, which provided for the issuance of a patent to a person who invents or discovers “any” new and useful “manufacture” or “composition of matter” within the meaning of that statute arose before the U.S. Supreme court in Diamond v. Chakrabarty, 447U.S. 303 (1980). The Supreme Court found that the patentee had “produced a new bacterium with markedly different characteristics from any found in nature and one having the potential for significant utility”. It was held that, “His discovery is not nature’s handiwork, but his own; accordingly it is patentable subject matter,” under Title 35 U.S.C. 101. The Supreme Court noted that Chakrabarty’s patent claims were of three types: first, process claims for the method of producing bacteria; second, claims for an inoculum comprised of a carrier material floating on water, such as straw, and the new bacteria; and third, claims to the bacteria themselves. The patent examiner allowed the claims falling into the first two categories, but rejected claims for the bacteria, on two grounds : (i) that micro-organisms are “products of nature”, and (ii) that as living things they are not patentable subject matter under 35 U.S.C. 101. The invention was claimed to be human-made, genetically engineered bacterium, capable of breaking down multiple components of crude oil. Because of this property, which was possessed by no naturally occurring bacteria, Chakrabarty’s invention was believed to have significant value for the treatment of oil spills. By breaking down multiple components of oil, Chakrabarty’s micro-organism promised more efficient and rapid oil-spill control. (Oil decomposed into simplier substances can serve as food for aquatic life). When the Supreme Court was pointed out the grave risks that may be generated by such research endeavours, the Court observed that, the briefs presented “a gruesome parade of horribles”, and it was told that, genetic research and related technological developments may spread pollution and disease, that it may result in a loss of genetic diversity, and that, its practice may tend to depreciate the value of human life. The Supreme Court observed that these arguments passionately presented reminded the court that, at times, human ingenuity seems unable to control fully the forces it creates – “that, with Hamlet, it is sometimes better “to bear those ills we have than fly to others that we know not of”. The Court disagreed, and observed that the grant or denial of patents on micro organisms was not likely to put an end to genetic research or to its attendant risks. “The large amount of research that has already occurred when no researcher had sure knowledge that patent protection would be available suggests that legislative or judicial fiat as to patentability will not deter the scientific mind from probing into the unknown any more than Canute could command the tides. Whether respondent’s claims are patentable may determine whether research efforts are accelerated by the hope of reward or slowed by want of incentives, but that is all”. The Court observed that it was without competence to entertain these arguments either to brush them aside as fantasies generated by fear of the unknown, or to act on them, and that the matter was of high policy for resolution within the legislative process which involves balancing of competing values and interests, that, in a democratic system, was the business of elected representatives.

[17]   Patenting Laws

[17.1] Patent claims may assert rights over DNA in various ways, for example, they may claim one or more of the following:
* the DNA sequence, whether comprising a complete or partial gene
* promoters
* enhancers
* individual exons
* expressed sequences as expressed sequence tags (ESTs) or cDNAs
* whole transcribed genes as cDNAs
* individual mutations known to cause disease
* variation between people not associated with disease (polymorphisms)
* cloning vectors, formed from bacterial DNA, which are used to express * proteins in replicated DNA sequences
* isolated host cells transformed with expression vectors, which are cells *that have been created to express particular proteins
* amino acid sequences (proteins)
* the use of such proteins as medicines
* antibodies, which are used as markers
* nucleic acid probes, which are fragments of DNA that are used to locate particular parts of DNA sequences
* methods of identifying the existence of a DNA sequence or a mutation or deletion in an individual
* testing kits for detecting genetic mutations
* whole genomes
[See ‘The Ethics of Patenting DNA”, Discussion Paper by Nuffield Council on Bioethics – 2002, para 3.12]

[17.2] In para 3.16 of the Discussion Paper, referring to the case of Diamond v. Chakrabarty (supra), it was observed that, perhaps the most well-known example of a living organism which was granted a patent is the genetically engineered bacterium that was the subject of litigation in that case. The Supreme Court allowed the grant of the patent to stand, US Chief Justice Burger famously remarking that in principle `anything under the sun that is made by man is eligible for patenting’. Other living organisms that have been patented include yeasts, viruses, and cell lines.

[17.3] European patent law relating to naturally occurring phenomena and living organisms has evolved along similar lines. The 1998 EC Directive on the Legal Protection of Biotechnological Inventions (98/44/EC) states in Article 3 that: for the purposes of this Directive, inventions which are new, which involve an inventive step and which are susceptible of industrial application shall be patentable even if they concern a product consisting of or containing biological material or a process by means of which biological material is produced, processed or used. Biological material which is isolated from its natural environment or produced by means of a technical process may be the subject of an invention even if it previously occurred in nature. Article 5 of the EC Directives states that, an element isolated from the human body or produced through a technical process, including the sequence or partial sequence of a gene, may be patented even where that element’s structure is identical to that of a natural element. It can therefore be seen that in both the US and Europe, DNA sequences are regarded by the law, in principle, as being eligible for patenting once they have been isolated from their natural environment. However, to be granted a patent, they must meet the legal criteria of being novel, inventive and having utility or being capable of industrial application. The question whether DNA sequences are eligible for patenting is distinct from the question whether they meet these legal criteria.

[17.4] Under the Patents Act, 1970, which is applicable in India “Invention” as defined in section 2(1)(j) means, any new and useful – (i) art, process, method or manner of manufacture, (ii) machine, apparatus or other article, (iii) substance produced by manufacture. Amongst the inventions which are not patentable are an invention the primary or intended use of which would be contrary to law or morality or injurious to public health; the mere discovery of a scientific principle or formulation of an abstract theory; the mere discovery of any new property or new use for a known substance or of the mere use of a known process, machine or apparatus unless such known process results in a new product or employs at least one new reactant; a substance obtained by a mere admixture resulting only in the aggregation of the properties of the components thereof or a process for producing such substance; any process for the medicinal, surgical, curative, prophylactic or other treatment of human beings or any process for a similar treatment of animals or plants to render them free of disease or to increase their economic value or that of their products.(See clauses (b), (c), (d), (e) & (i) of Section 3 of the Patents Act, 1970). Section 5(1) of the Act, inter alia, provides that, in the case of inventions claiming substances intended for use, or capable of being used, as food or medicine or drug no patent should be granted in respect of claims for substances themselves, but claims for the methods or process of manufacture shall be patentable. However, a claim for patent of an invention for a substance itself intended for use, or capable of being used, as medicine or drug may be made, if it falls within sub-section (2) of section 5. Persons claiming to be the true and first inventor of the invention are entitled to apply for patents under Section 6.

[17.5] To fulfill the requirement of novelty, an invention must not have been previously disclosed to the public. Individual genes in their natural state are not directly accessible and additional work is required to isolate them. The question is whether this is enough to allow the conclusion that the isolation of a gene is actually deserving of recognition in the form of patent protection. The requirement for inventiveness means that applicants must be able to demonstrate that, when compared with what is already known, the claimed invention would not be obvious to the skilled person’- an ordinary worker with a good knowledge and experience of the subject.

[17.6] There has been considerable debate about whether isolated DNA sequences, as they are used in diagnostic tests, medicines or as research tools, are inventive and known as obvious to the skilled worker. The Nuffield Council on Bioethics in Ethics in its Discussion Paper “Ethics of Patenting” has drawn an important distinction between the acquisition of knowledge about the nature and function of a DNA sequence, and the information contained within that sequence, in the following terms:
“Even though we think that the judgment that isolated DNA sequences are eligible for patenting is based on a questionable extrapolation to the case of genetic information from the case of the isolation of chemical compounds, we accept that a limited number of the early patents granted on that basis need not now be called in question, in view of the inventiveness required to isolate the DNA sequences. Since the early days of the pioneering experiments using positional cloning techniques, patents have been filed on many DNA sequences which were mass-produced by a mixture of computational and cloning techniques. Even if it can be convincingly argued that these sequences were eligible for patenting, the patents should be examined in the light of the criteria for inventiveness and utility. We note that as techniques have advanced, and in particular as the use of computers to identify genes has become more widespread, the eligibility of DNA sequences for patenting should have diminished.” (para 3.49).

[17.7] With regard to the legal criteria for assessing patents with claims to DNA sequences, it was said: “While we accept that the test of novelty can be met, the tests of inventiveness and utility are more problematic. In the case of inventiveness, we hold that as the use of computational databases becomes the standard way of identifying genes, it is difficult to see how the test can be met, despite current US practice. In the case of utility, we argue that the standard of credibility required for a claimed utility needs to be set higher than the mere theoretical possibility of this utility; some positive evidence that the DNA sequence has the claimed utility should be required. Finally, we consider the requirement that patents should satisfy the condition of not being contrary to morality or `order public’, and suggest that patent, offices should seek general ethical guidance, as necessary, from relevant bodies.” (para 3.50).

[17.8] The Discussion Paper of the Nuffield Council suggested a number of ways in which the patent system should be modified for the future and made several recommendations aimed at ameliorating the deleterious effects of patents that have already been granted. Some of these are :

(a) Exclusive rights awarded for a limited period are, in the main, defensible and that the patent system has in general worked to the benefit of people. Nonetheless, in the particular case of patents that assert property rights over DNA, consideration should be given to whether the balance between public and private interests has been fairly struck. (para 2.10).

(b) The rights asserted over DNA sequences that have been identified and characterized only by in silico analysis of the DNA sequence and comparisons with other identified sequences should not be allowed, on the grounds of lack of inventiveness. The granting of patents that assert rights over DNA sequences should become an exception rather than norm. (paras 3.35 – 37).

(c) The criteria already in place within existing patent systems for the granting of patents, particularly the criterion of inventiveness, be stringently applied to applications for product patents which assert, inter alia, rights over DNA sequences for use in diagnosis. The European Patent Office (EPO), the United States Patent and the Trade Mark Officer (USPTO) and Japan Patent Office (JPO) should together examine ways in which this may be achieved. The USPTO and US law makers should give consideration to whether patent laws need to be amended for this purpose. (para 5.22).

(d) The protection by “use patents” of specific diagnostic tests which are based on DNA sequences could provide an effective means of rewarding the inventor while providing an incentive for others to develop alternative tests. ( para 5.24).

(e) In specific cases in which the .enjoyment of exclusive rights to the diagnostic use of DNA sequence is not in the public interest, those seeking to use the diagnostic tool or develop an alternative, should seek a compulsory license from the relevant authorities if they are refused a license from the owner of those rights on reasonable terms, and the authorities may grant such license. (para 5.29).

(f) Granting of patents which assert rights over DNA sequences as research tools should be discouraged. The Council welcomed recent Utility Guidelines for DNA sequences introduced by the USPTO which have, in effect, been endorsed by the EPO. The Council expected if these recommendations which included review of the guidelines and strengthening them to achieve their purpose was implemented, the result would be that patents which assert rights over DNA sequences for use in research will become the rare exception rather than the norm. (para 5.41).

(g)When rights are asserted in terms intended to cover all sequences that contained EST(a research tool whereby the coding parts of genes could be rapidly sequenced), that is the subject of the original patent, no patent should be granted. (para 5.38).

(h) The public institutions which already have been awarded patents that assert rights over DNA sequences as research tools be strongly encouraged not to license them exclusively to one or a limited number of licensees, even when, by not doing so, they may suffer some loss of revenue in the short term. Whenever possible, the private sector should consider non-exclusive licensing for those DNA sequences which are used in research. (para 5.42).

(i) Research exemption’ be given a statutory basis in the US and clarified in Europe by policy-makers as a matter of urgency. (para 5.45).

(j) Once a gene associated with a disease is identified, the use of the relevant DNA sequences in gene replacement therapy, to alleviate the effects of mutations in that gene, is obvious (particularly when such use is claimed on a purely speculative basis). Therefore, protection by product patents should seldom be permissible. Patent protection should be concentrated on developing safe and effective methods of appropriate gene delivery. (para 5.49).

(k) While rights asserted over DNA sequences which are used to make new medicines based on therapeutic proteins are generally acceptable, they should be narrowly defined. This means the rights to the DNA sequence should extend only to the protein described. (para 5.56).

The USPTO, EPO, JPO and other relevant bodies should give consideration to the concept of limiting the scope of product patents that assert rights over naturally-occurring DNA sequences to the uses referred to in the patent claims, where the grounds for inventiveness concern the use of the sequence only, and not the derivation or elucidation of the sequence itself.

[18]   The Need for Judicial Education

[18.1] Evidence based on genetic test results is a form of opinion evidence, which is admissible if it is from an expert. DNA evidence that is relevant to a fact in issue is admissible in civil proceedings unless it is barred under an exclusionary rule, or by judicial discretion. To illustrate judicial discretion, we may refer to the decision of the Supreme Court of India in Gautam Kundu v. State of W.B., reported in (1993)3 SCC 418, in which, in context of maintenance of a child under Section 125 of the Code of Criminal Procedure, the father disputed paternity and demanded blood grouping test to determine parentage, the Court held that, where purpose of the application was nothing more than to avoid payment of maintenance, without making out any ground whatever to have recourse to the test, the application for blood test cannot be accepted. It was also held that no person can be compelled to give sample of blood for analysis against his / her will and no adverse inference can be drawn against him / her for such refusal.

[18.2] In the light of the often highly scientific nature of genetic test results, judges will need to balance the probative value of genetic evidence against its potential prejudicial effect when considering whether to admit such evidence. Once the evidence is admitted, the expert scientific witness must explain the science and technology involved in the genetic test, the interpretation of the results, and their significance to the Court. In addition, each party’s counsel must have sufficient understanding to examine or cross-examine the expert witnesses appropriately. The judge must also have sufficient understanding to evaluate the evidence. Justice Ming Chin of the Supreme Court of California has commented in the following terms on the potential implications where genetic evidence is admitted in court proceedings:
“The use of genetic information in court raises new evidentiary challenges. DNA evidence is often complicated and laborious to present, and those without a scientific background – including most judges and jurors – often have difficulty understanding it. A courtroom is not an ideal forum for resolving conflicts between scientific theories, yet judges will constantly be asked to referee battles among lawyers and scientific experts over the acceptance of DNA evidence. The complexity and rapid development of genetic science will exacerbate the problem. Scientists need ongoing dialogue and continuous re-examination to test their theories. In courtrooms, decisions must be made at the close of the evidence. This reality creates a natural tension between science and the law.” (See para 46.23 of the ALRC Report – 96 “Essentially Yours…").

[18.3] In the United States, an organization known as the Einstein Institute for Science, Health and the Courts (EINSHAC) provides education to judges, courts and court-related personnel in relation to a number of scientific and technical areas, including genetic evidence. According to its website.
“Our calling is to make science accessible to the instruments of justice. Our mission is to provide judges, courts and court-related personnel with knowledge tools related to criminal and civil justice proceedings involving evidence from the genetic sciences – genetics, molecular biology, biotechnology and molecular medicine – and from new discoveries and technologies in the environment and neuro-sciences. In sum, we emphasize the science and impacts of … technologies in judicial system proceedings."

[18.4] Therefore, the National and State Judicial Academies and the Bar Councils should develop and promote continuing legal educational programmes for judges and legal practitioners, respectively, in relation to the use of genetic information in the court proceedings.

[18]   Conclusion

[19.1] The advances in genetic science raise multiple legal issues that emphasize the need to educate and train legal minds to comprehend and cope up with the challenging tasks that would arise in the legal field. Acquiring knowledge of genetic science in context of law and law enforcement should be tampered with concern for social and cultural effects of the `New Genetics’, so that a human being does not come to be viewed as a bundle of mere gene cells. The genetic science instantly brings into sharp focus that in a human body, besides the human cells that compose its totality, there lies a separate and independent entity which cannot be seen or analyzed in terms of cells and that entity will alone be concerned with scientific, legal and ethical norms which should be devised to regulate and control the progress of genetic science for the betterment of all human beings and the vast biodiversity that surrounds it. If there be detected genetic component to various traits relating to individual’s behaviour, personality, including intelligence, anger, aggressiveness, anti-social conduct, anxiety, and addiction, let there be devised a gene therapy that prompts the mankind towards world peace and economic prosperity.

[19.2] India has the benefit of having outstanding scientists and advanced legal system. There is a vast material available due to efforts of devoted scientists, jurists, and national and international institutions, which can assist in bringing about an infrastructure in the Indian context by making suitable legislation in the fields of forensic procedure, DNA database, DNA patenting, genetic privacy, court procedures in DNA cases, education and training of legislators, judges, lawyers and administrators in the context of their tasks. National Human Genetics Commission should be set up to provide high level technical and strategic advice about the current and emerging issues in human genetics, and a consultative mechanism for development of National Genetic Policy and guidelines in that area. It is already late. Let not the time pass in slumber, for, the progress in genetic science primarily meant for healing the mankind should not remain unregulated to assume a monstrous shape of genetic weapons in the hands of evil minds and develop abuses that would tend to silently destroy human peace and humanity.

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