September 2007
Blood samples have been taken from the Yanomami Indians of the Amazon for genetic research. Source: Creative Commons.
Although blood samples have been collected from indigenous or native peoples since the early 1920s, genetic testing of the world’s indigenous populations has been a source of heated controversy in the past two decades. Since the development of technology for decoding the genetic sequence of living organisms, geneticists and researchers have predicted that insights into human genes will enable scientists to better understand the genetic bases of numerous human diseases and disorders. Excited talk about possible cures has inspired a gene rush reminiscent of the California gold rush.
According to the UNESCO Bioethics Committee, population genetics is a discipline of genetics which “considers the characteristics of genes within a population as opposed to a description of the genes in a particular individual.”1 In the quest for a holistic understanding of gene-environment interactions, several large-scale population genetic research studies have been initiated. Only Ashkenazi Jews have previously been the subject of such an intense and sustained scientific scrutiny.
Why focus on indigenous groups?
Why focus on indigenous peoples, and why has genetic testing of indigenous populations been such a heated and emotive issue? From the scientific standpoint, the increased homogeneity of the gene pool in populations perceived to be endogamous, or isolated from large-scale crossbreeding with other populations of dissimilar genetic background, makes it easier to identify perceived genetic peculiarities.
- It is easier to identify genetic triggers of inherited diseases when one studies the genetic pool of endogamous communities as opposed to communities with greater genetic variety.
- Many isolated, culturally and linguistically distinct populations are currently in imminent danger of merging with other communities, making genetic testing an urgent need.2 Nevertheless, some populations perceived to be genetically homogenous may not in fact be so.3
In 2005, the National Geographic Society and IBM launched the “Genographic Project,” a genetics research project targeting indigenous populations. Members of the general public are invited to send their DNA to National Geographic for analysis. The project is expected to last for five years. The project states that it involves no medical research, but will rather study human migrations.4
The Genographic Project was preceded by two other projects that did explicitly involve genetic testing of indigenous peoples for medical research: the Human Genome Diversity Project [the HGDP]5 and the international HapMap6 (designed to study genetic markers called “haplotypes,” which consist of closely linked groups of alleles that tend to be inherited together7). Despite the high expectations surrounding the projects, the HGDP and the international HapMap floundered, or at least, found themselves the target of bitter and inflammatory rhetoric. The failure of the HGDP to achieve its target may be attributed to the vociferous opposition of indigenous groups, inspired by perceived historical injustice to and exploitation of indigenous populations. The crucial source of resentment was that critics argued the project treated indigenous peoples as mere sources of useful information while failing to recognize adequately their right to determine their own course. Whereas the arguments of those in support of genetic testing of indigenous populations largely focus on the vaunted medical benefits of such research findings, there is a firestorm of protests from groups, individuals, and stakeholders skeptical of the legal, ethical, and socio-cultural implications of genetic testing of indigenous peoples.
Why is there opposition?
Genetic testing is a controversial technological breakthrough largely because it involves the following issues:
- the ownership of genetic samples
- the patentability of the information gleaned from the testing, and
- whether researchers obtained prior informed consent of the person from whom the genetic material was extracted.
These concerns become more contentious when genetic technology is applied to individuals or groups with historical and contemporary claims of injustice and racialization.8 In such cases, the issues broaden into serious questions about international human rights laws9, ethics, and cultural self-determination of peoples.10
At the core of the opposition to this testing from indigenous peoples is the memory of the racist and culturally insensitive dimensions of Western technologies, particularly those deployed during the height of Western colonialism and conquest. The backdrop to the unfolding debate is the increasing empowerment of indigenous populations since the demise of formal colonialism. Increasing political and legal power for indigenous groups over the past thirty years has put the ethical, legal, and cultural ramifications of genetic testing near the top of their agenda. At the height of colonialism, medical experimentation on indigenous populations was common, as was the “scientific” justification for racial denigration and depredation on such groups in the Americas, Australia, New Zealand, and other parts of the world.11 It is not surprising, then, that the announcement of the commencement of the Genographic Project was met with indignation and condemnation by a swathe of indigenous peoples, organizations, and human rights activists.12
What legal considerations influence patentability?
The development of technologies and markets for gene therapy and products of biotechnology are factors that have made the search for commercially useful genes very lucrative. This in turn has led to the widespread use of patents as legal instruments for the control and merchandising of genetic information. It is therefore important to understand the legal requirements for a valid patent on genetic subject-matter and how patent law has been significantly modified to suit commercial interests.
Patent law requires that an inventor wishing to obtain patent protection for a new invention must disclose the industrial applicability of the alleged invention. This is generally referred to as the requirement of utility or industrial applicability. In patent law, regardless of the social, religious or cultural construction of genetic material, DNA sequences are considered to be like other complex chemical substances, such as paints, drugs, et cetera. Accordingly, anyone wishing to patent a genetic sequence obtained from a person, indigenous or non-indigenous, must disclose the utility of the DNA sequence. According to section 112 of the US Patent Act, this specification shall “contain a written description of the invention.”13
Judicial interpretation of section 112 of the US Patent law and similar legislation throughout the world shows that the utility requirement has three components, each of which must be met by an applicant.
- The “written description” requirement – the invention itself must be described.
- The “enablement” requirement —the specification must describe the manner and process of making and using the invention.
- The “best mode” requirement — the specification must describe the best mode contemplated by the inventor for practicing the invention.
To the extent that an applicant for patent protection has shown that the DNA sequence is new, involved an inventive step, and is capable of industrial application, the DNA sequence is a patentable subject matter.
The legal issue is therefore whether the applicant has met the three disclosure requirements. Patents can be issued only for sequences with known and proven utility. Patented sequences, unlike other chemicals with known utility, often have unknown functions even when scientists know the function of a similar gene sequence.14 Evidence suggests that in the past decade, many patent offices, especially those of the United States, Canada, United Kingdom, and European Patent Convention, have issued thousands of patents on the basis of homology instead of specific and ascertained utility and function.15 This practice is inconsistent with patent law.
Even in the absence of proven utility, selling and licensing the use of genetic data are very lucrative.16 However, as the United States National Institutes of Health (NIH) and the Association of American Medical Colleges (AAMC) have recently argued, patents on homologous gene sequences (as they are called) are flawed because “a difference in a single base pair in a gene sequence can have important functional implications.”17 In simpler terms, gene sequences may be homologous on paper and yet have different pharmacological expressions when deployed or used therapeutically. Such small differences in supposedly homologous sequences are not uncommon.
As noted above, patent offices and recent judicial attitude suggest a gradual return is in progress to a more conservative and rational approach to the test of utility in genetic patent applications. In this regard, the decision of the court in the case of Regents of the University of California v. Eli Lilly & Co.18 is an instructive example:
One of the patents at issue in Eli Lilly issued from an application filed in 1977 and claimed recombinant plasmids and recombinant microorganisms containing a cDNA (a complementary DNA [Cdna] is DNA that has been synthesized from fully spliced ribonucleic acid [RNA] in a reaction catalyzed by the enzyme reverse transcriptase.] in essence, an isolated copy of an expressed gene—coding for a vertebrate insulin, such as rat or human insulin.
The patent describes a method of obtaining the cDNA sequence for rat insulin and discloses the sequence of the cDNA of rat insulin. The patent also describes the amino acid sequence of human insulin and discloses how the same method used to obtain the cDNA for rat insulin may be used to obtain human insulin cDNA. Because a patent on a genetic sequence may preclude subsequent patents on or uses of the sequence, patents are central source of contention. The patent does not, however, recite the sequence of the cDNA for human insulin.19
Judge Lourie of the US Federal Circuit affirmed the district court’s invalidation of a claim directed to a microorganism containing a cDNA for human insulin and claims generically reciting cDNAs for vertebrate or mammalian insulin.20 With respect to the claim reciting a cDNA for human insulin, the court reasoned that: “While the example provides a process for obtaining human insulin-encoding cDNA, there is no further information in the patent pertaining to that cDNA’s relevant structural or physical characteristics; in other words, it thus does not describe human insulin cDNA. Describing a method of preparing a cDNA or even describing the protein that the cDNA encodes, as the example does, does not necessarily describe the cDNA itself.”21
In claims involving chemical materials, generic formulae usually indicate with specificity what the generic claims encompass. A person skilled in the art can distinguish such a formula from others and can identify many of the species that the claims encompass. Accordingly, such a formula is normally an adequate description of the claimed genus. In claims to genetic material, however, a generic statement such as “vertebrate insulin cDNA” or “mammalian insulin cDNA,” without more, is not an adequate written description of the genus because it does not distinguish the claimed genus from others, except by function.
The court therefore held that “a cDNA is not defined or described by the mere name “cDNA,” even if accompanied by the name of the protein that it encodes, but requires a kind of specificity usually achieved by means of the recitation of the sequence of nucleotides that make up the cDNA.”22 This and similar decisions evidence a shift towards a stronger scrutiny of genetic patent applications. It is fair to say that the granting of speculative genetic patents that fail the requirement of the rules on specification of inventions brings the patent system into disrepute, especially when the victims of patent law sloppiness—people whose future actions and opportunities are constrained by over-broad patents—are already marginalised populations.
What are the ethical implications of testing?
The arguments against genetic testing of indigenous populations are not limited to the legality or patentability of genetic materials. Opponents have also marshalled formidable arguments regarding the ethics of genetic testing, especially the potential for racialization of indigenous groups. This assertion cannot be dismissed with vague assurances of propriety and changed circumstances. At the dawn of Western colonization, indigenous peoples were treated like objects, excluded from the dominant segments of humanity. The mummies and graves of indigenous peoples were often looted for “scientific studies” by Western colonizers. It follows, then, that current attempts at genetic testing of such groups, especially studies performed without legitimate prior informed consent, could easily reawaken the humiliation and dispossession of indigenous peoples.23
In spite of assurances that indigenous populations will receive equal benefits of genetic testing, evidence shows that on several occasions, scholars and researchers who collected samples from indigenous peoples enjoyed academic and professional advancement, while few benefits trickled down to the indigenous populations who provided the genetic materials.24 Researchers, academic institutions, and some drug companies, such as Harvard University, Boerhringer Institute, and Sequana Therapeutics Inc, have profited immensely from the gene sequences obtained from indigenous populations.25 Such allegations have swirled in particular around the blood samples taken from the Yanomami Indians of Brazil26 and the Havasupai Tribe of Arizona.27 Opposition to genetic testing of indigenous populations has gained significant resonance in several quarters because of unequal sharing of benefits (to both reputations and finances)28 between the populations and researchers.29
Some opposition from indigenous populations to the Genographic Project and similar projects is partly on the basis of the activities of the International Board for Plant Genetic Resources (IBPGR). In the 1970s, the IBPGR collected more than 125,000 plant germplasm specimens with the purported objective of holding them in trust for humanity. More than 80 percent of the specimens held in IBPGR storage sites were identified by indigenous peoples across the world. This immense database, however, became the source for billions of dollars worth of patented plant hybrids controlled by Western powers and agri-business giants.30 Indigenous populations thus have a long and painful history of being forgotten by dominant segments of humanity as soon as any perceived worth has expired.
Genetic testing of indigenous groups could also raise divisive questions about membership in indigenous groups.31 In this context, it must be considered that the parameters for membership in an indigenous community may be different from what pertains in other societies. It is often the case that indigenous communities share common beliefs of origin, cultural affinities, and linguistic characteristics that may transcend genetic differences. Population genetics has the potential to confirm or refute long-held notions of common genetic and ancestral origins of many populations by exploring human migratory pathways. For indigenous peoples, the possibility of the revision or shattering of cherished lore and narratives of ancestral origins among various groups is a serious factor affecting their quest for self-determination. This fear is stoked equally by the fact that virtually all the personnel and instruments for the population genetics exercise are from communities and institutions historically associated with the subordination and dispossession of indigenous peoples. In an age when the concept of “indigeneity” has assumed potency in the struggle for political, economic, cultural, and social self-determination, however, the results of genetic testing of indigenous populations could spur significant social conflicts and divisions unless guidelines are established for how such information should be handled.
In conclusion
Beyond ethics, indigenous populations and human rights activists have found support in emerging international human rights jurisprudence on the need to protect indigenous peoples from racial discrimination and the emerging imperative of safeguarding indigenous peoples’ knowledge. For example, article 8(j) of the Convention on Biological Diversity obliges states to “respect, preserve and maintain knowledge, innovation and practices of indigenous communities and promote their wider application with the approval and involvement of the holders of such knowledge.”
In sum, although it is true that “population-based genetic research has the potential to affect human good, especially by further medical science,”32 researchers and their sponsors must consider seriously the concerns of indigenous populations about the ethics of genetic testing,33 the law and ethics of testing, and of course, the spiritual and historical arguments canvassed by indigenous populations. In this regard, it is comforting to note that the global community is increasingly aware of the need for an ethical approach. Even so, more work needs to be done on the politics of genetic testing, and especially the disempowerment of indigenous peoples.
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