Ethical issues involving informed consent and genetic testing are becoming increasingly complex in light of the evolution and availability of genetic testing for specific disease entities. New questions regarding informed consent are being raised by professional, public, and private entities. A critical component of the nurse’s role, regardless of practice setting, is often active participation in the informed consent process, specifically in the area of genetic testing (AACN 1998; Collins and Jenkins, 1997; Grady 1999; ISONG and ANA 1998; Scanlon and Fibison 1995; Touchette, Holtzman, Davis, and Feetham 1997). Knowledge of ethical issues associated with genetic testing is essential to nurses as they counsel clients (in this section, the term client will refer to participants in health care) who come in with questions that may engender ethical dilemmas in the clinical setting.

There are ethical questions that address the rights of the individual and family members as well as the roles of the community and the state in regard to genetic testing and research. This chapter addresses ethical issues surrounding informed consent and will present questions and unresolved issues related to how genetic technologies affect informed consent. Future implications for the individual, family, and society are discussed.

Historical meanings and definitions of informed consent and methods for obtaining informed consent are being challenged in the genomic era, with more questions being raised than ever before. Preserving the rights of both the individual and the family, as well as maintaining the ethical and legal obligations of the community and state, remain paramount in the genomic era. Client autonomy and decision-making related to informed consent have taken on new meanings with the mapping of the human genome. The genetic revolution will have an impact on how individuals, families, and communities handle health issues, and society at large will change as new discoveries become commonplace in healthcare settings. The importance of the client’s understanding and the presentation of genetic information are critical in preserving the rights of all parties involved in informed consent.

Traditionally, the doctrine of informed consent has been predicated on the physician-patient relationship in decisions about diagnostic testing and medical or surgical treatment. In the United States a series of landmark legal decisions beginning in 1914 established the right of a competent individual to be the sole decision maker about “what shall be done with his/her own body” (Luce 2003; Schloendorff v. Society of New York Hospitals 1914). In Salgo v. Leland Stanford Junior University Board of Trustees (1957), the California appellate court established that informed consent must include the nature of the medical procedure, its purpose, the attendant risks, and the various alternatives to this procedure. In 1972, in another landmark case, Canterbury v. Spence, the court established the reasonable person standard of disclosure which states:

Informed consent for research involving human subjects was formalized in the Nuremberg Code, which included the concepts of personal autonomy, freedom from coercion, freedom to withdraw, and full disclosure of information. In 1979, reacting to specific examples of subject abuse in the interest of research, the U.S. National Commission for Protection of Human Subjects of Biomedical and Behavioral Research issued the Belmont Report. These two documents are the ethical and legal foundations for the conduct of biomedical research with human subjects (Pelias 2001). The requirement for protection of research subjects through the informed consent process described in the report has been codified into federal policy (45 CFR, Part 46 (1983, 1991) and applies to all federally funded research (Hamvas, Madden, Nogee, et al. 2004).

Current review of federal regulations governing biomedical research with human subjects reveals that the intent and language of the regulations as currently written are not readily adaptable to genetic research, leaving insufficient protection in the current informed consent process. Pelias (2001) recommends that genetics research and family history recordings should be the focus of new provisions that could be added to current regulations or issued as independent guidelines specific to research in genetics. The new guidelines or provisions should provide more stringent safeguards for:

Organizations such as the American Society of Clinical Oncology (ASCO) strongly recommend that research on biological samples that are not anonymous from the time of collection (for example, tissue from biopsies and other surgical procedures) be considered human subjects research. Research involving these tissues should be guided by federal regulations, including informed consent provisions. Stewardship of specimens beginning with initial collection may be problematic, particularly in large research studies (ASCO 2003). Therefore the possibility of utilization of these biological samples for future genetic research should be considered. The prospect of future research on tissue samples should be explicitly stated in the informed consent, thereby allowing the individual to refuse consent.

The Health Insurance Portability and Accountability Act (HIPAA) of 1996 was prompted largely by concerns about unregulated access to a client’s genetic information
that might lead to discrimination in access to employment or insurance (Burke 2002; NIH 1997). However, HIPAA does not fully define genetic information and it does not prohibit the use of genetic information obtained from sources other than genetic testing, for example, family history. HIPAA protects against potential discrimination by health insurance providers for those people who are covered by group or employment-based health insurance. It does not extend the same protection to people who are covered by individual insurance policies or to people who lack access to COBRA (Consolidated Omnibus Budget Reconciliation Act) coverage after terminating employment-based insurance coverage (ASCO 2003).

In an attempt to safeguard individual autonomy, 41 states have enacted legal protection for genetic discrimination (Hamvas, Madden, Nogee, et al. 2004). Now, with the coming of a new genetic age, we must ask if informed consent standards mandated by current case law are sufficient to provide appropriate protections. We are especially concerned about the lack of legal protection of genetic information under individual insurance policies and protection for people who lack access to COBRA. It is likely that these laws will need to change in order to secure the rights of the individual.

Federal legislation, such as the Rehabilitation Act of 1973 and the Americans with Disabilities Act of 1990, prevents discrimination on the basis of handicap or disability. However, neither act includes provisions related to genetic discrimination. State legislation varies; some states protect against loss of insurance coverage and benefits, and insurance rate discrimination for individuals undergoing genetic testing. However, additional legislation is needed to limit medical testing by employers and to ensure that the information collected or tests performed are job-related exclusively. In the absence of legislation, we should require that all genetic testing and counseling be conducted so as to protect the identity of the person receiving services, similar to the way HIV (human immunodeficiency virus) testing is currently conducted in the United States (Bove, Fry, and MacDonald 1997). And what are the implications for family members as genetic information becomes available? If genetic testing could be done in a protected manner, would this eliminate the need for informed consent, thereby preventing genetic discrimination?

The advent of the genetic age has created an expanded notion of the genetic identity of an individual or “client autonomy” with regard to genetic information (Goldworth 1999). Client autonomy is the ability to govern oneself and make deliberate choices about one’s own future. The principle of client autonomy is understood as a decisional privacy, or the right of an individual to make one’s own decisions, without
duress or coercion, about possible options to pursue. A person should have the right to make choices regarding one’s self, based on one’s own values and beliefs, and to choose and act freely concerning what is done with one’s body without controlling interventions of others (Goldworth 1999; Grady 1999).

In the past, client autonomy in medical decisions has changed from complete dependence on the advice of the physician to a more client-centered, non-directive approach. Client autonomy in informed consent primarily revolves around the client, or the client and the guardian or representative. Guidelines for preserving a client’s autonomy in informed consent have previously meant providing adequate information in the appropriate cultural and educational context. In instances of genetic-related testing or treatment, this would ensure free, unpressured decisions. According to Grady (1999), discussion of privacy, implications for family members, impact on future choices, possible discrimination, and psychological reactions should all be part of the informed consent process.