443CHAPTER 13

Ethical and Policy Issues in Clinical Genetics and Genomics

Leila Jamal

Since the completion of the Human Genome Project, advances in genetics and genomics have made DNA tests available for thousands of diseases in an expanding range of clinical settings, including preconception and prenatal care, pediatrics, oncology, neurology, and cardiology. These developments have increased the likelihood that a clinician will need to navigate the ethical and social issues associated with these tests. A better understanding will help the nurse clinician anticipate these issues and optimize the utility of genetic testing for patients while minimizing the risks.

This chapter focuses on the topics of eugenics, informed consent, genetic discrimination, privacy and confidentiality, direct-to-consumer (DTC) genetic testing, predictive genetic testing in children, and managing incidental findings from genome-wide sequencing. While issues related to ethics in research, human cloning, and transgenic plants are widely debated, they are less central to the work of a nurse clinician and are thus considered to be outside the scope of this chapter.

THE HISTORY OF EUGENICS

Eugenics refers to the improvement of a species through genetic manipulation. Positive eugenics seeks to accomplish this by increasing the frequency of traits considered desirable through encouraging selective mating and reproduction of those possessing such traits (the “fit”). Negative eugenics seeks to reduce the frequency of traits considered undesirable by preventing the reproduction of those persons possessing such traits (the “unfit”). Although plant and animal breeders have long practiced eugenics to improve crops and livestock, formal programs in humans began in the latter part of the 19th century.

The attempt to improve the genetic quality of the human species by “better breeding” developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain, and Germany; in those countries, it was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree to which traits such as Huntington’s chorea, blindness, deafness, mental retardation (feeblemindedness). In 1910, the 444Eugenics Record Office was established in Cold Spring Harbor, New York, with a major goal of preservation of the “racial welfare” of the United States though propagation of those whom they considered fit and prevention of propagation of those they considered unfit. Those considered fit were healthy, intelligent, affluent, Protestant individuals, of the upper or upper-middle class, with high moral character, and Anglo-Saxon or Nordic extraction. The characteristics were generally those possessed by the eugenicists themselves.

Although many proponents of eugenics were sincere in their intent to strengthen the human race and alleviate suffering, the movement was also a refuge for racial supremacists who came to dominate it. Genetics was used in an attempt to biologically justify the perceived inferiority of Blacks, Jews, Irish, and Southern and Eastern Europeans. The activities and influence of the eugenicists ranged from sponsoring blue ribbon baby contests at county and state fairs to the implementation of sterilization practices and the Immigration Restriction Act of 1924 (the Johnson Act). The latter restricted immigration to 2% of the number of each nationality listed in the 1890 Census, a year that was well before the mass immigration of persons from Southern and Eastern Europe.

Compulsory sterilization was seen as a way to prevent the propagation of the “unfit,” a term that in its various interpretations included the mentally retarded (now called “persons with intellectual disabilities”), the insane, alcoholics, orphans, paupers, derelicts, epileptics, diseased and degenerate persons, and even chicken thieves. Campaigns for eugenics sterilization laws were launched, although some enthusiasts were already performing sterilizations in state institutions. In addition to the institutionalized mentally retarded, involuntary sterilization abuses extended to those who were African American or poor.

The misuse and misunderstanding of genetic knowledge coupled with an emerging doctrine of racial superiority led to the denouncement of the movement by many geneticists and citizens. By the 1930s, the visible abuse of genetics and eugenics for totalitarian aims and the flagrant disregard for human rights were so evident in Nazi Germany that not only did the movement lose momentum in the United States, but the discipline of human genetics itself was left with a tinge of stigma that permeates many genetic research programs even today.

INFORMED CONSENT

In a clinical context, it has long been recognized that there is an ethical duty to secure informed consent from a patient before he or she undergoes genetic testing. This norm emerged in response to the atrocities of the eugenics movement, which made clear the necessity to respect patient autonomy in decisions about how genetic testing was used. Informed consent is also important because the results of genetic testing may have social, economic, and psychological implications for a patient and the family. When a genetic test is ordered, these implications may not be obvious to a clinician, but could be very important to the patient.

Another crucial reason to obtain informed consent for genetic testing is that the outcomes of testing are often the function of a patient’s choice about how to respond 445to test results. Genetic test results may have forceful implications for one’s reproductive future, life expectancy, or medical management. To equip a patient with the means to understand and act upon a genetic test result in his or her best interest, a clinician needs to discuss the purpose, limitations, and possible outcomes with the patient before ordering a specific test. Ideally, this discussion should employ straightforward vocabulary that is comprehensible to the individual considering the testing. The informed consent discussion is especially important in situations where a genetic test could yield results that are uninformative, or could provide false reassurance about a future disease risk. Additionally, results with unclear significance may raise anxiety levels without a clear, future course of action.

ISSUES OF PRIVACY, CONFIDENTIALITY, AND DISCLOSURE

Before availing themselves of genetic testing, individuals should know who can gain access to their test results and what rules of confidentiality are in place. This is especially important because genetic test results may have health implications for the relatives of the individual tested. By discovering the genetic cause of a disorder and its pattern of transmission, and by examining the pedigree of the family, other relatives at risk may be identified. Sometimes the original patient undergoing testing will not wish to share the test results with relatives for any number of reasons, including fear of stigmatization, a desire not to be in contact with certain relatives, a belief that the relative will not want the information obtained, or feelings of guilt about a diagnosis.

Under most circumstances, a clinician’s primary duty of confidentiality is to the patient. However, the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) has recommended that:

Because of the complexity of breaching professional confidentiality, even in the context of the “duty to warn,” it has been suggested that the clinician contemplating such an action seek review by “an appropriate third party,” such as a hospital ethics committee.

Additionally, the American Society of Human Genetics (ASHG) points out that confidentiality should be applied to genetic information in the same manner as other medical information. The ASHG Statement (1998) includes “confidentiality is not absolute, and, in exceptional cases, ethical, legal, and statutory obligations 446may permit health-care professionals to disclose otherwise confidential information.” Additionally, the statement outlines exceptional circumstances that permit disclosure:

Finally, the statement includes, “The harm that may result from failure to disclose should outweigh the harm that may result from disclosure” (p. 474).

Although case law is not clear, there have been lawsuits because of physician failure to warn family members about their possible risk of genetic disease.

OWNERSHIP AND FUTURE USE OF SAMPLES TAKEN FOR TESTING/SCREENING

When human tissues are acquired for genetic testing in both clinical and research contexts, these tissues (and the data derived from them) may be retained for research purposes. At present, if samples or data from an individual will be useful in future research, it is standard practice to seek broad informed consent to use these samples or data in research at the time of acquiring them. However, the long-term retention of tissue samples and related data is controversial, because future research uses of individual samples and data are not always foreseeable at the time of their collection. Furthermore, it is unclear who “owns” these samples and data, or what rights they have to decide how they are used. As a result, it is difficult to obtain truly “informed” consent from an individual to use their samples and data in research.

In the past, the anonymization or de-identification of tissues and genetic data were the most trusted strategies for mitigating risks to genetic research participants from loss of confidentiality. However, with the growth of electronic data sharing, it is no longer possible to guarantee that anonymized donations of samples and data will remain de-identified in large data repositories. Another issue is that, increasingly, research participants wish to know how their samples are being used in research, and at times they may feel entitled to receive individual research results from studies to which they have contributed, especially if these results are relevant to their health. For these reasons they may actually prefer keep their identities linked to tissue samples and the genetic data derived from them.

These issues remain highly contested policy topics. At present, they are being addressed in a variety of ways: (a) restrictions are being placed on how broadly researchers can share data, (b) researchers are being encouraged to be more transparent about the risk that tissue samples and genetic data may be re-identified, and (c) researchers are being encouraged to develop and articulate plans to return medically actionable research results to participants in their studies. However, universal rules adjudicating these issues have not been developed. How they are handled remains largely a matter of individual researcher discretion.

447GENETIC DISCRIMINATION

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