Primary Care

Radical new approaches to taking a thorough family history will be needed to meet the challenges of genetic testing

More than 540 genetic tests are presently available to clinicians, and an additional 350 are currently under development. A thorough family history is a critical first step in deciding who might be a candidate for genetic testing. Yet, evidence from practice suggests that a thorough exploration of the family history may be more the exception than the rule in adult primary care.

Radical new resources and approaches to the application of family history will be required in the coming years to ensure that patients derive the full benefits from advances in human genetics, according to the authors of a recent article. Their work was cofunded by the Agency for Healthcare Research and Quality, the Maternal and Child Health Bureau of the Health Resources and Services Administration, and others.

Risks of genetic testing demand that candidates for such testing be selected carefully. Risks include costly and unnecessary testing, needless anxiety, and inappropriate and possibly hazardous therapy. Also, genetic testing can significantly affect family relationships, lifestyle choice, and reproductive decisions.

Primary care physicians face many barriers to obtaining thorough family histories. Time is a barrier to family history taking and genetic counseling in primary care. For example, a complete three-generation genogram takes about half an hour. Other barriers include reimbursement policies, current modes of organizing adult primary care practices, varying patient expectations, and physicians' knowledge and skills. Short of radical changes in reimbursement of primary care practice, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing, such as computer-based tools for obtaining family history information from patients. New resources will also be needed to support the appropriate application of genetic advances in primary care practice.

See "Reconsidering the family history in primary care," by Eugene C. Rich, M.D., Wylie Burke, M.D., Ph.D., Caryl J. Heaton, D.O, and others, in the March 2004 Journal of General Internal Medicine 19, pp. 273-280.

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