Managing Genetic Information: Implications for Nursing Practice: By Colleen Scanlon, RN, MS, JD, and Wendy Fibison, RN, MHSc, PhD; Published by American Nurses Publishing, PO Box 2244; Waldorf, MD 20604; 800-637-0323; 1995; ISBN 1-55810-111-X; $9.50 ANA members; $13.95 list price

The Human Genome Project, a government sponsored research and technology development effort aimed at gathering scientific information about the human genome, is expanding the amount of genetic information relevant to health and disease. This new genetic information is increasing the number of options for reproductive planning and for decision making about a person's own health.1

Genetic information is unique and potentially permanent medical health information about the heritable contributions to an individual's health that are acquired during a lifetime. Genetic information includes identification of a specific genetic trait, a predisposition to a genetic disorder, the presence of a presymptomatic genetic condition, or the diagnosis of an inherited condition. Nurses will encounter genetic information about individuals in all clinical settings and have important roles in recognizing, recording, and conveying genetic information to individuals and families. Thus, guidelines for using, storing, and interpreting genetic information, as well as standards to assure quality of nursing care, are recognized as necessary.2,3

Managing Genetic Information: Implications for Nurses provides an excellent summary of a pioneering project: "Managing Genetic Information: Policies for U.S. Nurses." This project was initiated in response to the need for developing policy statements and professional guidelines for nurses for appropriate management of genetic information, especially with regard to issues of privacy, confidentiality, informed consent, disclosure, and protection of human rights. The overall goal of this project is to "move the profession of nursing forward in confronting the growth of genetic science and technology."

Directed by the American Nurses Association (ANA) Center for Ethics and Human Rights and funded by the Ethical, Legal and Social Issues Branch of the Human Genome Project, the strategies used to achieve this goal as outlined by the authors are to:

* Gather and analyze information about the ways in which nurses are involved in obtaining, communicating, and using genetic information;

* Identify ethical dilemmas that nurses face in their various roles; and

* Develop resources to assist nurses in managing professional and ethical challenges related to genetic discoveries.

A national survey of 1,000 nurses was done to assess the current state of nursing practices related to genetic technology. A summary of this survey is provided in the introduction. Of note is that most nurse respondents had not had a formal course in genetics during their professional education or throughout their continuing educational programs. Nurse respondents also reported a decreasing sense of competence and confidence in their ability to participate in counseling and education about genetic testing with clients. Of importance was the finding that most nurse respondents had not heard of the Human Genome Project and did not believe that current genetic efforts were significant to their practice.

An overview of the incidence of genetic conditions also is presented to acquaint nurses with the frequency and spectrum of genetic conditions. Once believed by many to be rare, the number of currently identified genetic conditions exceeds 5,000. A review of new applications of genetic technology, such as the development of new laboratory techniques, advances in prenatal diagnosis, presymptomatic testing for cancers, and gene therapy, also is provided. Implications for nurses, such as more direct involvement in ordering and interpreting genetic tests and providing certain aspects of genetic counselling, are presented. This overview serves as background for the sections that follow, in which the nature of genetic information and guidelines for nursing practice are discussed.

The main body of the document is devoted to a review of ethical issues related to nursing management of genetic information. The ANA Code for Nurses is presented as the fundamental ethical mandate that can be applied to all nursing practice settings, including genetic services. Nurses are reminded that the central axiom directing the profession is respect for persons. Other ethical principles upon which nursing management of genetic information is based are noted and include autonomy (self-determination), veracity (telling the truth), confidentiality (respecting privileged information), and justice (treating people fairly).

Issues of particular importance to nurses providing genetic health care are identified and defined. These include assurance of informed consent with regard to genetic testing, privacy and confidentiality of genetic information, veracity and disclosure in providing reliable and accurate information to clients, and nondiscrimination with respect to health care provision. Each of these ethical issues is discussed at length with implications for nursing practice, and a supplemental case study is provided to illustrate each issue. For example, the fundamental elements of informed consent (capacity, disclosure, voluntary consent) are reviewed in detail. Components of the informed consent process and genetic screening and testing are outlined. The role of the nurse is described and involves discussion of such issues as disclosure of test results to others, and the possibility of unexpected test results, such as nonpaternity and ownership of DNA samples. Nurses are called upon to help clients clarify values and goals, assess understanding of information, and protect the clients' rights and support their decisions. The case study presented as an example of the importance of informed consent involves a 28-year-old woman who is pregnant and who has a brother and a first cousin who have mental retardation. Questions regarding the nurse's assessment of the client's capacity to understand potentially complicated information and how the nurse's own biases might affect provision of information are posed for consideration.

In the conclusion, the authors discuss future trends in genetic discoveries, such as multiplex testing, fetal cell sorting, and gene therapies. Nurses are challenged to "update their genetic knowledge, comprehend the multifaceted impact of genetic information, and anticipate future trends." Recommendations are made for practice, education, research, and policy development. Nurses are encouraged to take an active role in all of these areas to assure the quality of genetics services and genetic competence of nurses.

The project presented in this document represents a major contribution to the understanding of the ethical, legal, and social impact of the Human Genome Project. It also establishes a solid foundation for developing appropriate guidelines for nurses in genetics. It serves as an important educational resource for nurses in all practice settings and is useful for graduate and undergraduate nursing educators and students.

Reviewed by Dale Halsey-Lea

References