Primary Care Clinicians and the Dilemmas of Genetic Testing

Part 2: The Role of the Primary Care Provider in Genetic Medicine

As primary care clinicians are becoming more conversant with the recent advances in genetics, the key issues that many are raising include: How will genetics impact my daily practice? What kinds of questions will patients be asking about genetic medicine? What is the appropriate role of the primary care clinician in the overall delivery of genetic services? What kind of education do I need to effectively fulfill this role?

In a household survey of patients conducted by the American Medical Association, over 80% of those surveyed were confident that their primary care clinicians could assess the risks of their developing a genetic disorder and could appropriately recommend genetic testing when indicated. About 74% were also confident that their primary care clinicians could correctly interpret the results of a genetic test.⁵ Thus, the general public has a high level of confidence in their primary care clinicians and an equally high set of expectations when it comes to genetic medicine.

Two areas of genetic medicine are currently most relevant to primary care and are thus most likely to impact daily practice. They are:

1. Prediction of risk for adult onset disorders with a known genetic component, (familial breast and colorectal cancers, Huntington’s Disease and others) based on family history and/or genetic testing.⁶
2. Assessment of reproductive risk by testing for common autosomal recessive conditions such as hemoglobinopathies, cystic fibrosis, and muscular dystrophy.⁷

For the near future, these issues will probably define the focus of genetic medicine in primary care. However, over the next several years, as genetic medicine becomes more pervasive, primary care clinicians are likely to become involved with:

• Testing for the genetic components of common disorders that have multi-factorial etiologies such as ischemic heart disease, asthma, or diabetes, and
• Identifying normal genetic variations that predict drug response and side effect profiles.⁸

With respect to these areas of genetic medicine, primary care practitioners will probably have specific roles within a collaborative health care team that includes genetic counselors, clinical geneticists, and others. With rare exception, the primary care clinician will have the closest relationship with the patient and is therefore most likely to know the patient’s medical history, family medical history, and attitudes towards health care.⁹ In light of this, Jon Emery and Susan Hayflick have suggested that in the future, primary care clinicians might take on the following:¹⁰

• Identifying individuals who may benefit from genetic services.
• Recognizing physical and historical features of genetic disorders.
• Providing basic genetic information, and counseling to facilitate informed decision-making and informed consent for genetic testing and other genetic services.
• Recognizing the special psychosocial needs of a family in which a genetic disorder or susceptibility has been identified.
• Knowing the full range of genetic specialists available in one’s area and when referral and collaboration are indicated.
• Collaborating with genetics specialists in managing patients with complex and rare genetic disorders.

These activities encompass what we might call the science and the art of genetic medicine.

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