Ethics of Genomics Research Paper

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Introduction

Genomics is the study of genetic information using a whole-of-genome approach. This approach is possible due to major advances in molecular biology, computer technology, and informatics and permits the production and handling of the large quantities of information present in a genome. The latter culminated in 2003 with the announcement by the International Collaboration of the Human Genome Project of the comprehensive sequence of the human genome. Numerous other genomes have been sequenced including all the principal human pathogens. The sequencing of the human genome and the ongoing work linking genotype with phenotype presents enormous potential in public health to explore the interaction of genetics and environment in the development of disease. Yet it also raises many ethical and legal issues, which are the focus of this research paper.

Human Genomics, Public Health, And Personalized Medicine

The Impact Of Medical Genomics On Public Health

At present the primary focus for public health in genomic research lies in medical genomics, that is, in human genomics or the genomics of pathogenic or model (e.g., mouse) organisms relevant to understanding the human condition. Genomics may be used in the pursuit of understanding about qualitative (e.g., predisposition to diabetes or skin color), quantitative (e.g., blood pressure or BMI), and behavioral (e.g., smoking or ADHD) traits in humans. Genomic research may be carried out at the individual, group, or population level, with each level carrying inherent ethical and legal risks and issues. In some respects these issues overlap considerably with issues raised in the study of genetics, a far more limited exercise primarily concerned with single-gene disorders such as Huntington’s or Tay-Sachs disease. The principal difference in the study of genomics over genetics, lies in the escalating levels of information with multiple applications. These include the potential to characterize the genetic component of complex diseases and drug responses and the ability to rapidly identify and sequence emerging pathogens such as the SARS virus.

Issues such as the duty to warn, informed consent, or when to test children are not confined to genomics. However, in the ‘postgenomic’ era the huge expansion of genetic information amplifies these issues. The shift from detection of rare single-gene disorders to identification of the genetic component of complex and common diseases is a shift from diagnostic services, counseling, treatment, and consideration of the consequent ethical issues for a very small group of affected individuals to the same considerations and services for populations as a whole. This shift, by itself, has the potential to overwhelm health systems.

The Rise Of Personalized Medicine

Until now individuals and families with genetic disorders have been a minority group. Genomics and the rise of ‘personalized medicine’ will change this. Early 2006 saw a powerfully emotive media and political campaign in most developed countries supporting the provision of Herceptin, an expensive, genetically targeted drug for breast cancer treatment. Public pressure expedited drug approval and its use outside recommended guidelines. We can expect that the number of genetically tailored treatments will increase exponentially in the postgenomic era and will consume scarce resources. It is possible that genomic-derived therapies may ultimately save more than they cost but some critics suggest that without careful planning, an emphasis on genetic diagnosis and therapy may result in neglect of low-tech solutions.

The future of genomics lies in the provision of affordable, whole-of-genome, individual, genetic-risk assessments and population-based screening for genetic risk factors. Both of these scenarios involve hugely increased demands for provision of counseling. Many recessively inherited diseases have a high incidence of carriers; for example, in Caucasian populations 1 in 40 are heterozygotes for alpha-1 antitrypsin deficiency and 1 in 25 heterozygotes for cystic fibrosis. Complex diseases such as diabetes and cardiovascular disease (CVD) have multiple associated gene mutations, which many of us carry. Hook et al. (2004: 646) suggest that counseling should include ‘‘a comprehensive and accurate discussion regarding inheritance patterns, penetrance, statistical risks, and potential environmental interactions.’’ Assuming each piece of genetic information delivered, as part of a genomic analysis, will have its own attendant peculiarities, the degree of understanding demanded by both the clinician delivering it and the client receiving it may be overwhelming. The up-skilling of existing health workers and the development of appropriate training for new doctors and counselors, which keeps pace with a rapidly expanding knowledge field, will be a major burden for all parties involved and for a society. In addition the potential for misinformation with ensuing public health consequences is great.

A fundamental ethical issue in genetically inherited disease is how to balance the need to protect confidentiality against the duty to warn potentially affected relatives. In particular the refusal of a proband to share critical genetic information with relatives raises serious ethical issues. To date, with some notable exceptions, patient confidentiality has won out against duty to warn. In the context of a postgenomic world a clinician’s duty to warn, given that all of us carry some potentially harmful genetic variants, is probably not feasible yet the degree of litigation arising from such cases will grow. With time this may become a moot point if testing is population-wide. In the meantime, as increased genetic screening tests become available, discussion of these ethical issues will be essential.

The ‘Geneticization’ Of Health And Illness

The rise of personalized medicine brings with it the potential danger of the ‘geneticization’ (Lippman, 1991) of health such that the contribution of environmental factors in health and disease is downplayed. Although genomics permits high-risk individuals with a genetic predisposition to complex disorders to take action to minimize their risk, such knowledge may be counterproductive. Fatalism arising from a belief in genetic determinism may result in a failure to undertake appropriate preventive measures. Alternatively, individuals may be falsely reassured by negative genetic information and may engage in risky behavior as a result. Changing behavior requires considerable personal resources and there is increasing evidence that genetic knowledge may not be a sufficient motivator. In the past, most genetic testing has revolved around inherited disorders with a high certainty of future disease. In contrast, genomics will in many cases predict marginal increased risk which, when applied across populations, may have significant implications for public health but may be more difficult to communicate to the individual patient or the public at large.

Genomic Information And Equity

Screening Of Children

Genetic screening of children is controversial particularly when the disease has delayed onset or is largely untreatable. For many conditions presenting in childhood there may be however economic or psychosocial reasons for screening: it could reduce both acute presentation and reliance on expensive and often distressing diagnostic tests. Screening in the postgenomic era means that issues are further amplified (McLean and Mason, 2005). Many genes have variable penetrance, that is, an individual may have a genotype associated with disease but will not express the disease or may have only a mild case. Genomic testing in children will invariably raise unnecessary anxiety and, although understanding of genotype/phenotype associations will improve with time, there may be always some variability in expression. There may be some basis for the argument to divide tests into childhood and adult-onset conditions but even here there must be overlap. Genomic testing with only selected release of data may be possible. Arguments around balancing individual and collective responsibilities come into play. Should parents, perhaps in consultation with their physician, have the final decision as to whether their child will be tested or should society regulate such a decision with due consideration to the best interests of the child? Programs and policies in this area will need to reflect local social norms.

Antenatal Screening

Many of these arguments also apply to antenatal screening. On one hand, in many cases the objective with antenatal screening will be to support the exercise of termination, what McLean and Mason (2005) describe as ‘‘coming dangerously close to a eugenic programme.’’ On the other hand, some ethicists would argue that allowing a severely disabled child to be born and suffer when this can be avoided is a reprehensible act. The gray area in between these two extremes offers considerable room for discussion. As genomic knowledge grows Kirkman (2005: 164) suggests ‘people will want to protect their future children from disease, help them to live longer, influence their appearance and abilities, balance the sexes in the family and maximise children’s chance of success in life.’’ Society and public health practitioners have a role to play in helping to regulate the potential excesses of eugenics by promoting ‘‘empirical evidence, informed debate and building social consensus’’ (Kirkman, 2005: 164) and ultimately by regulating genomic and genetic services.

Discrimination

Misuse of genetic information by employers or insurers is a reality although the extent of discrimination is not clear (Hook et al., 2004; see also NIH National Human Genome Research Institute website). Fear of misuse of genetic information, even if unfounded, has the potential to stymie research and prevent uptake of new technologies with potentially deleterious public health consequences. There are, therefore, grounds for legislation to protect individuals from genetic discrimination even in the absence of extensive evidence for such discrimination. Existing legislation, generally only found in developed countries, is variable (McGleenan, 2001).

Confidentiality

Ideally, to reduce cost and maximize utility for public health, it would be desirable for an individual to undergo genomic testing on a single occasion with the information subsequently stored in a population-wide biobank, available for any physician or pharmacist who might need to access it. Given the potential for discrimination it could be argued that access to genomic data should be subject to tight regulatory controls.

In genomic research there are similar issues. Manasco (2005) describes a sharp reversal in ethical thought from ‘‘an almost uniform view that all genetic research should be conducted on anonymous samples’’ to ‘‘protect the human subjects from unintentional release of personal information’’ to the present concept of retaining a link to maximize use of the data. This also allows consent for secondary use of the data. In both areas public confidence in the security of genetic data storage is paramount for maximizing the public health potential.

Consen

Genomic screening consent is complex because it is not known exactly what information will emerge from ongoing research. Feetham et al. (2005) allude to this risk with respect to the APOE gene, in which early research showed elevated risk of CVD while later studies revealed an increased risk of Alzheimer’s disease. Some research participants who consented to research on CVD risk may have inadvertently learned of their risk for Alzheimer’s disease also. Such occurrences may become increasingly common as genotype/phenotype associations are unraveled.

Keeping The Products Of Genomic Research In The Public Domain

Equitable use of genomic information is reliant on keeping the data in the public domain. John Sulston (2003) presents the compelling argument that databases held in the private domain are ‘‘of limited value; subscribers who pay to view them must necessarily contract not to distribute the information or the data would quickly become public and lose their business value.’’ Data that cannot be shared cannot be published for public critique and use. Yet, in 1999 the public genomic project came close to being turned over to commercial interests.

From an insider’s perspective, Maynard Olson (2002) describes the steamroller of media, money, marketing, ideology, and spin that threatened to shut down the public genome sequencing project. Such a move would have severely restricted research in the area by restricting access to genomic information but there is an argument that the combination of private and public efforts accelerated the project. Some issues from commercialization of genetic information remain from patents issued for individual genes thereby restricting development of therapeutic applications. It could be argued that patenting of genes, rather than specific applications, is both unethical and damaging to the public good (Nuffield Council on Bioethics, 2002).

The first of the population-wide biobanks, the private company DeCode Genetics, houses genetic information for Iceland’s population. Other models have since been developed (Cambon-Thomsen, 2004). The primary public health issue with storage of materials is confidentiality and hence controls over access to the data. Cambon-Thomsen (2004) argues that larger biobanks allow the development of highly sophisticated IT tools to control and protect access, tools that would be beyond the reach of smaller biobanks. Concerns about security have led to lively debate around whether the regulation of biobanks, and genomic information more generally, merits specific legislation or is sufficiently protected under existing legislation. The discipline of public health will have an important role to play in contributing to this ongoing debate (Omenn, 2000).

Global Equity And Genomics

Many agree with the HUGO Ethics Committee that ‘‘human genomic databases are global public goods’’ (Human Genome Organisation Ethics Committee, 2002). How this concept is to be reconciled with powerful commercial interests is less clear. Genomic research may actually increase global inequity by principally benefiting developed nations. In an attempt to counter this probable outcome, a 2004 report, Genomics and Global Health, advocates a Global Genomics Initiative (United Nations Millennium Project, 2004). The report also maps biotechnologies with the greatest potential to impact on global health including edible vaccines, cheap safe vaccines for malaria, TB, and HIV/AIDS, and genetic modification of staple foods to enhance nutritional value. Again it could be argued that simple, sustained low-tech public health approaches could be similarly effective.

Broader Social Implications

Increased Longevity

The products of genomic research will increase health and thereby increase average lifespan. As a consequence, the proportion of elderly in many populations must increase as the effects of the genome project are translated into health gains. In developed nations social consequences arising from aging populations are already a public health issue. However, present projections may be inadequate in the face of potential medical advances resulting from genomic research.

Nonmedical Use Of Genomic Information

Genetic risk assessment extends to behavioral traits such as predisposition to alcoholism or criminal behavior. Screening in childhood might allow for effective intervention but there is also potential for self-fulfillment and stigmatization particularly if racial stereotypes are inferred. The use of genomic information beyond the medical arena must be then viewed with trepidation. Past experience has shown that behavioral traits with a genetic basis have been used for the perpetuation of policies that have severely impinged on individual and group rights.

Safety And Regulation

Validation And Regulation Of Genomic Tests And Genetic Screening

For public safety, genomic testing must be fully evaluated for analytical and clinical validity, as well as clinical utility. Beyond this, given the complex issues around consent and confidentiality, the idea that genomic testing should be regulated in some way is beyond question. At present many countries rely on existing regulations relating to genetic screening. With the expected avalanche of genomic information, these protections may rapidly prove to be inadequate, thus further debate on the issues will be needed. For example, under what circumstances should direct-to-consumer marketing of genetic tests be permitted? Many web-based genetic testing services presently offered are based on unsubstantiated claims.

Artificial Genomes

The in vitro assembly of a whole genome, a bacteriophage in 2003, was quickly followed by synthesis of infectious poliovirus. The production of artificial functional genomes incorporating natural and nonnatural amino acids is also possible (Rinaldi, 2004). These achievements raise the specter of bioterrorism: synthesis of human pathogens, such as smallpox or even artificial pathogens, constructed to resist known therapies. In addition there is the possibility of accidental formation of an artificial pathogen during genetic manipulation for other purposes. Global oversight and ongoing discussion of the potential risks to public health, posed by this genomic technology, is essential.

Nonhuman Genomics

Genomics is not restricted to the human genome and may be applied in nonmedical fields impacting on public health such as environmental studies, entomology, and plant science. Sequencing of plant genomes, such as the rice genome completed in 2005, will facilitate research around crop yields, disease protection, nutritional value, and production of therapeutic or industrial compounds. Similarly, an understanding of plant and insect genomics will open doors to understanding the interaction of organisms in complex ecosystems possibly permitting better forest management, carbon dioxide sequestration systems, water pollution management, and control of insect vectors. These scenarios have the potential to increase food production, provide clean water, reduce pesticide/herbicide use and mitigate global warming. However, they also hold the potential to increase inequity (because many of the benefits of genomics will be targeted to the developed world), reduce diversity, and, particularly in the genetic modification of cell lines, result in unforseen harmful consequences.

Conclusion

Genomics carries the promise of enormous public health benefits but only if the balance among community good, commercial interests, and individual freedom is carefully managed to maximize equity and safety. For this reason it is especially important that public health practitioners engage in the ongoing debate around the many ethical issues associated with the new genomic age. This will include active involvement in the regulatory frameworks that will be essential for managing safety and security for genomic information and in the community engagement essential to maintaining societal understanding and support.

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