Book Review

Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care

N Engl J Med 2002; 346:1420May 2, 2002

Article

Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care
By Mary B. Mahowald, Victor A. McKusick, Angela S. Scheuerle, and Timothy J. Aspinwall. 304 pp. St. Louis, Mosby, 2001. $39.95. ISBN: 0-323-01203-5

This book is the product of a three-year project supported by the U.S. Department of Energy and entitled “Implications of the Geneticization of Healthcare for Primary Care Practitioners.” Geneticization, a term coined by Lippman in 1991, is “an ongoing process by which differences between individuals are reduced to their DNA codes, with most disorders, behaviors, and physiological variations defined, at least in part, as genetic in origin.” Given the rapid expansion of information in genetics, which will accelerate even more with the completion of the Human Genome Project, exploring the implications for primary care practitioners is an extremely ambitious project. The book has four parts, which cover basic genetic concepts and clinical applications of genetic testing; cultural and ethnic differences, the roles of nurses, and genetic counseling; ethical and social issues related to genetic testing; and regulatory matters, including issues related to managed care and insurance. Also included, as an appendix, are the Institute of Medicine's findings and recommendations with respect to the assessment of genetic risks. In addition, a selected bibliography of relevant articles includes many useful electronic references. Given the scope of the information covered, it is not surprising that some sections are stronger than others.

The book starts out with a lucid and concise overview of human genetics by McKusick, one of the pioneers in the field. His review serves as an excellent introduction to the discipline. In the succeeding sections on the clinical applications of genetic testing, there is a good discussion of the difference between the diagnosis of a genetic disease (such as cystic fibrosis) and genetic testing for a predisposition to a disease (such as breast cancer or colon cancer). In addition, the importance of taking a multigenerational genetic history in all patients is emphasized. The discussion of the diagnosis and treatment of genetic disease is not comprehensive enough, however, to provide the primary care practitioner with the necessary tools to make diagnoses and to treat patients with such diseases. As the authors point out, the education that most primary care physicians have received in genetics has been extremely limited. Thus, more thorough training in this area will be needed.

The sections on ethical and social implications are very strong. The authors discuss issues in genetic medicine that are not commonly dealt with but that are very important. Included are discussions of genetic testing from the perspective of disability, cultural and ethnic differences in genetic testing, and issues related to sex and access to care.

There is also a key discussion of the nondirective nature of genetic counseling. The book points out that this quality makes genetic medicine different from many other medical fields in which patients often expect direction from their physicians and the physicians are trained to provide it. The authors emphasize the importance of nondirective counseling in genetics to enhance the autonomy of the patient. This concept has been a cornerstone of genetic counseling. In another chapter, the nurse's role as a care provider in the realm of genetic medicine is discussed. The author proposes a new “deliberative” model of genetic counseling that stresses a more directive role for the nurse and claims that this model would improve such counseling. However, no data are presented in support of this claim, and it seems unwise to promote a change before such data are available.

Two other very important issues are also discussed: the issue of disclosure of genetic information to other family members and the matter of insurability and discrimination in employment. The conflicts that arise between the requirement of confidentiality and the need to inform other family members of the presence of a genetic disorder that may affect their health are thoroughly and thoughtfully discussed. With regard to insurability and discrimination in employment, the authors point out that there is a real potential for genetic information — either the diagnosis of a disease or a test indicating the predisposition to a disease — to affect the ability of a patient to obtain employment or medical insurance or to increase the cost of such insurance. There is a discussion of the limitations of current laws that have been enacted in an attempt to prevent this type of genetic discrimination.

The genetic testing of children is also discussed, with helpful information about who should give consent for testing and at what age genetic testing should be performed. Although this issue is extremely controversial, a strong argument is made in favor of deferring testing unless the results will affect the child's health care. This section also includes an interesting discussion about whether consent should be obtained for programs involving the screening of newborns. Although only one state currently obtains such consent, a convincing argument is made for doing so.

Advances in genetics will affect essentially all areas of clinical care. Because of the complexity and volume of the relevant information, practitioners in primary care will need many resources in order to incorporate genetic medicine into their clinical practice. This book will provide the ethical and social background that must accompany this learning process.

James Goldberg, M.D.
California Pacific Medical Center, San Francisco, CA 94118
jgoldberg@fetaldx.com