Primary Care Clinicians and the Dilemmas of Genetic Testing

Part 3: The Science and the Art of Genetic Medicine

Grappling with the science of genetic medicine, while quite challenging, is not a unique problem. In all areas of medical research, knowledge is being produced at a daunting rate and keeping up with the advances, in the traditional sense of learning all the new material, has simply become impossible. However, utilizing this new knowledge in the best interests of patients is not only possible but it is a primary challenge in health care, as it transitions to an information-based model. To accomplish this, clinicians are increasingly using a few related strategies. There has been a shift from a focus on remembering information to a focus on judiciously applying information in the service of shared decision-making. This involves:

• Easy access to the relevant medical literature, (often electronic) and critical application of this knowledge to the case at hand.
• Formal and informal consultation with, and referral to medical specialists and other health care professionals who have specialized knowledge. In genetic medicine of course, this requires familiarity with the functions of genetic counselors, medical geneticists, and other specialists who may have genetic expertise regarding particular disorders.
• A greater reliance on the team approach to health care delivery including the involvement of the patient as an informed team member. This involves knowledge of consumer-oriented information sources that can help patients become active participants in their own care.

There is an enormous amount of genetic information available electronically as well as in print. Go to Additional Resources for selected articles, books and websites that can assist clinicians with the science of genetic medicine. Sites for patient education are also included.

Resources for practicing the art of genetic medicine on the other hand, are less readily available, and are the focus of the Genetic Dilemmas program. The art of delivering genetic services in a primary care setting involves specific psychological, familial, social, ethical, vocational, financial, and legal issues that often differ from other areas of medicine.

In 1995, the American Society of Human Genetics (ASHG) published a recommended Core Curriculum in Genetics for medical schools.¹¹ This curriculum and others have been used to create a list of Core Competencies in Genetics for all health care professionals by the National Coalition for Health Professional Education in Genetics (NCHPEG), a coalition of over 100 health professional organizations.¹² Over half of the 44 competencies included concern the acquisition of communication skills and changes in practice attitudes that speak to the ethical, legal and psychosocial aspects of genetic medicine.

These skills are probably best acquired in the context of specific clinical cases. The accompanying videotape presents three such cases, together with a discussion of the relevant issues by genetic experts, primary care clinicians, ethicists and patient representatives. Watching the tape in conjunction with this viewer’s guide, and exploring these issues with colleagues should help clinicians begin to acquire or reinforce the skills and attitudes necessary to initiate pre-test counseling, guide a shared decision-making process about testing, obtain educated informed consent, follow up with post-test counseling, and/or determine when referral to a genetic specialist is indicated.

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