In addition, biological, mathematical, and statistical techniques are likely to continue to be developed to make identification easier in the future from smaller samples of DNA sequence. Within the genomics community, new resources are being created through the linkage of existing data sets or through new biomedical resources and biobanks. To carry out research, comparisons are routinely being made between web-based genomic reference libraries and the GWAS results held by researchers. Increasingly, the research data are being shared through informal means or deposition in archives or resources that are accessible by many researchers.
The possibility of being able to directly identify individuals as well as infer an individual, family, or group identity becomes easier as the data become richer and more detailed through the linkage of different data sets. Recent research has shown that it is possible to triangulate data sources freely available to the research community to identify individuals believed to be anonymous.
At the same time that detailed data sets are accumulating within the research community, cheaper sequencing techniques have enabled commercial companies to make genomic information available to the public over the internet. Consumers can now have access to commercial genotyping of their genome from direct-to-consumer testing companies. Some companies encourage individual subscribers to share their information with other family members and friends. Linking these sources to other information that is readily available on the internet, such as births, deaths, and marriage records held by government bodies, provides the means to make information that was previously thought to be non-identifying, potentially identifiable.
These companies make whole genome information available to the general public and it will no longer be held exclusively in the hands of scientists. Researchers are bound by research governance requirements, professional codes of conduct, and obligations of confidentiality, but many who gain access to genomic information as it becomes more freely available will not necessarily be under similar obligations.
At the moment, the identification of an individual in a collection of samples may not disclose very much clinically relevant information about that individual.
However, it is important to consider the implication of the disclosure not only on the basis of current knowledge, but also for the future. With a better understanding of the genome, sequence information may reveal more about an individual's risk of disease. Many commentators argue that absolute promises of privacy and confidentiality are simply not possible in the context of genomics research. Making promises that cannot be honoured has the potential to undermine much of the goodwill that the public has in relation to medical research. A loss of public trust will have a detrimental effect on research recruitment and could have many long-term effects.
Medical research is largely governed at the national level through a number of checks and balances that are based on professional norms embedded in practice. These are in turn supported and strengthened by a range of national guidelines and institutional requirements that are enacted by key gatekeepers such as research ethics committees and to some extent, funders.
Some countries have governance frameworks for research that are complex, contradictory, and confusing, with a number of different bodies asserting specific requirements and guidelines. These systems are severely tested in the case of global genomic research that involves data sharing and whole genomes. It is difficult for research ethics committees to exercise their mandate to oversee research and to protect the interests of research participants when their authority is nationally based and the assessment of the risks of such research involves specialist expertise.
For many GWAS data-generating projects, special governance systems have been established to supplement current oversight systems.
Ethical Challenges in Genomics Research
Research ethics committees were established within institutions for individual research projects, rather than to assess modern multicentre projects, such as GWAS, that span international borders. These projects create similar problems for national research ethics frameworks around the world. Many research ethics committees do not have the appropriate expertise and knowledge to deal with the complex legal and ethical issues that GWAS activities raise, and neither do they have the appropriate authority. Research ethics committees have traditionally held the principal investigators accountable for the execution of ethical research.
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In the case of data sharing of GWAS summary data and fine detailed phenotypic data, it is virtually impossible to hold the original collector responsible for the research or activities of researchers, as they may not know who may be located outside of the jurisdiction and the research ethics committee control. It is therefore difficult for committees to continue adequate monitoring of research and data the generation of which they originally approved. It is therefore not clear how already over-burdened committees could take on the role of monitoring and approving data access — a task that requires significant insight into the techniques used to produce and analyse data in genomics.
Neither are they equipped to carry out privacy risk assessments of global data sharing. As the mechanisms for establishing precedents in research ethics committee decision-making are informal, there can be also be considerable variation in the decisions of committees. It is in the area of emerging technologies and innovative, global, collaborative research proposals that there can be the most discrepancies in decision-making between ethics committees.
Decisions and procedures may vary within regions in countries, but the differences are most acute between countries, and where differing, ethical and legal frameworks exist. This creates additional burdens for collaborative, international consortia that have to obtain research ethics approval in each country for different parts of the research project. Further, if samples and information are being collected in different jurisdictions of the consortium to address a particular research question, they may be subject to different research ethics decisions.
DACs determine who should have access to data and on what grounds. The criteria used for this assessment are still in the process of being developed and are neither uniform nor publicly known. Research approval that must still be obtained from a research ethics committee as DAC approval is simply for access to the data set. However, there is no one body that is looking at disclosure when all of the genomic data sets are analysed together and there is a possibility of identification by using material available on the web.
The difficulty with the governance of GWAS through current oversight structures is that it is largely carried out at the national level, on a case by case basis, by bodies that have inadequate enforcement powers and whose focus does not address the increasingly complex implications of this kind of genomics research.
The issue for new methodologies such as whole genome sequencing methods is that it takes some time before a critical amount of expertise is built up within the research ethics community to make approval for research projects an efficient and straightforward process. In the case of emerging technologies, this can result in frustration for researchers and a slowing down of the research process.
Data sharing between large international projects, or researchers based in different jurisdictions, can also lead to multiple applications for the same research to different nationally-based bodies with different requirements. We are at an important time in terms of policy making and thinking about the future of genomics research. The technologies in relation to individual whole genome sequencing are developing quickly and at the same time there is increased data sharing between researchers, which is encouraged by funders and made possible because of the internet and e-science grid technology.
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This poses challenges for the traditional focus of research ethics on individuals, as concerns are widened out from the participant to family and population groups, and as responsibilities are widened from individual researchers in close contact with research recruits to large, often global, research networks that may store data and samples for indefinite periods into the future. The use of whole genome methods gives a new twist to perennial ethical issues, such as consent, feedback, and the protection of privacy, and the governance of research.
The fact that it is very difficult to obtain informed consent for all new research uses well into the future and that it is impossible to ensure the complete privacy of participants challenges some of the fundamental ethical principles of medical research. The potential threats to privacy, confidentiality, and associated informational harms created by global data sharing present somewhat different ethical questions to the physical risks that are centrally at issue within the sphere of clinical research ethics. We need to rethink the current reliance on anonymization and consent as sufficient safeguards to protect participant interests in research, particularly in the case of infrastructure that aim to link existing research archives and repositories of information.
It is impossible to obtain the traditional standard of informed consent for every secondary research use unless there is ongoing contact with research participants. The mechanisms that must be developed to protect individual autonomy must be carefully thought through. This may require a reevaluation of the fundamental tenets of the participant, research, and society relationship and the basis on which this should rest for genomic research.
Importantly, too, the significance of these ethical challenges is shaped by the changing landscape outside of genomics research, a landscape that includes widespread concerns about the use of personal information, as well as the activities of private and commercial entities and not just academic and research institutions.
The commercialization of genome sequences and the way that this is being made rapidly available to the public has an impact on the way that people think about genomic research conducted in academic and research institutions. In light of the technological advances in sequencing methods and greater data sharing, the following key areas need further consideration:.
These are difficult issues that need further thought and analysis to ensure the ongoing participation of participants in research and public trust. Ioannidis JP : Personalized genetic prediction: too limited, too expensive, or too soon? Ann Intern Med ; : — Nat Rev Genet ; 9 : — Cell ; : — Schuster SC : Next-generation sequencing transforms today's biology. Nat Meth ; 5 : 16— Science ; : — Plos Biol ; 6 : e Nat Rev Genet ; 10 : — Eur J Hum Genet ; 14 : — J Law Med Ethics ; 36 : — Illes J, Chin VN : Bridging philosophical and practical implications of incidental findings in brain research. Cho MK : Understanding Incidental findings in the context of genetics and genomics.
Because completing all these tasks is particularly difficult when direct-to-consumer marketing of genetic tests is used, that marketing approach has significant limitations 9. These enterprises receive compensation only if an individual, after counseling, chooses to undergo a test, bringing the standard of neutral counseling into question and further rendering the use of a market-driven approach to testing ethically problematic In the end, the physician plays an important role in providing adequate, neutral counseling; ensuring informed consent; and providing follow-up for genetic tests.
Neutral counseling also may be compromised through the use of patient educational materials or counselors that are provided by a company that might profit from a patient's decision to undergo testing.
Informed Consent | NHGRI
Particular caution should be exercised when obtaining consent for collecting genetic material that may be stored and, therefore, can have future clinical or research applications. The American College of Medical Genetics ACMG recommends that when samples are obtained for clinical tests, counseling should address the anticipated use of samples, including whether their use will be restricted for the purpose for which they were collected and if and when they will be destroyed When samples will be used for research or the development of diagnostic tests, the ACMG recommends that consent should include a description of the work eg, its purposes, limitations, possible outcomes, and methods for communicating and maintaining confidentiality of results.
There should be a discussion with the research participant about whether she wishes to give permission to use her samples without identifiers for other types of research, and she should be informed of the institution's policy regarding recontacting participants in the future. Current and future use of samples for research should follow state and federal regulations governing protection of human participants in research Two authors recently suggested that the "best consumer advice, given current law, is that one should not send a DNA sample to anyone who does not guarantee to destroy it on completion of the specified test" 7.
Others argue for the creation of a repository of samples donated by genetic altruists to be used for many different types of research 4. Testing of children presents unique issues in counseling and consent. Although it is most commonly pediatricians or geneticists who are called on to test children for genetic diseases, obstetricians may be asked to test already born children of parents who, through the process of prenatal testing, have been found to be carriers of genetic diseases. In such cases, the physician should balance the rights of the parents to have information that can optimize the ongoing health care of their children against the rights of the children to have their best interests protected.
There will be circumstances in which it can be determined that a child is at risk for an untoward clinical event in the future, but there may be no information about interventions that have the potential to reduce the likelihood of that event or the magnitude of its effect.
In that circumstance, the benefits of testing a child are not always clear eg, BRCA testing in a young child. The American Society of Human Genetics ASHG and ACMG together have suggested, "Counseling and communication with the child and family about genetic testing should include the following components: 1 assessment of the significance of the potential benefits and harms of the test, 2 determination of the decision-making capacity of the child, and 3 advocacy on behalf of the interests of the child" These societies highlighted additional points about benefits and burdens that should be included in counseling, some of which follow:.
The ASHG and ACMG concluded, "Providers who receive requests for genetic testing in children must weigh the interests of children and those of their parents and families. The provider and the family both should consider the medical, psychosocial, and reproductive issues that bear on providing the best care for children" 8. Physicians obstetricians and pediatricians also have a responsibility to provide information to patients regarding newborn screening.
The primacy of the child's welfare should animate these discussions as well. More detail about this issue can be found elsewhere Genetic testing of the fetus offers both opportunities and ethical challenges. Preconception and prenatal genetic screening and testing are recommended for a limited number of severe child-onset diseases because such screening and testing provides individuals with the chance to pursue assisted reproductive technology in order to avoid conception of an affected child, to consider termination of a pregnancy, or to prepare for the birth of a chronically ill child.
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With advancing genetic technology, however, physicians may increasingly face requests for testing of fetuses for less severe child-onset conditions, adult-onset conditions, or genetically linked traits. Principles regarding testing of children provide some guidance for when prenatal testing might be appropriate but this decision is significantly complicated by the various purposes that prenatal testing can have: to detect a fetal condition for pregnancy termination, to allow patients to prepare for the birth and care of a potentially affected child, or, more rarely, to detect and treat a fetal condition in utero.
Furthermore, many times, a woman's intentions regarding pregnancy termination evolve as genetic information becomes available to her.
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Therefore, testing the fetus for adult-onset disorders with no known therapeutic or preventive treatment save prevention by pregnancy termination should raise caution in a way similar to the manner in which testing of children can. In pregnancies likely to be carried to term, consideration should be given to whether, as in the case of testing children, the decision to test should be reserved for the child to make upon reaching adulthood.
However, consideration also should be given to personal preference, that is, the interests individuals may have in terminating a pregnancy that may result in a life such as life that will be affected by Huntington chorea that they feel morally obliged or prefer not to bring into the world. Because these often are wrenching decisions for parents, referral to parent support networks eg, National Down Syndrome Society, if that is the diagnosis of concern , counselors, social workers, or clergy may provide additional information and support In a large number of instances, when patients receive the results of genetic tests, they are party to information that directly concerns their biologic relatives as well.
This familial quality of genetic information raises ethical quandaries for physicians, particularly related to their duty of confidentiality. In these circumstances, some have posited an ethical tension between obligations the clinician has to protect the confidentiality of the individual who has consented to a test on the one hand and a physician's duty to protect the health of a different individual on the other hand. For example, a woman who discovers that she is a carrier of an X-linked recessive disease during the workup of an affected son might choose not to tell her pregnant sister about her carrier status because she does not believe in abortion and fears that her sister might consider an abortion In another example, a woman identified as a carrier of a gene predisposing individuals to cancer might not wish to share the information with relatives, some of whom might even be patients of the same physician who tested her, because such sharing would disclose her own status as a carrier.