What should primary care physicians keep in mind about genetic testing?

Genetic testing has made the world of the family physician much more complicated and controversial. You should expect greater demands from your patients for genetic testing, especially as more tests for diseases become available through the mail or Internet.

As the primary care provider (and if genetic counselors and medical geneticists are not readily available), you and your patient(s) should go though an information gathering phase. This will help you and your patient ascertain whether genetic testing is necessary and/or advisable. In addition, when genetic counselors or medical geneticists are consulted, the information you have collected from your patient will be very important.

Below are some general things to keep in mind:

• Genetic testing is complex, and communication of risks and uncertainties must be attended to thoughtfully and critically. Consumers and healthcare professionals need to know that genetic information can have profound side effects i.e., possible insurance consequences, work discrimination, psychological side effects such as people’s perceptions of their body, family, and future. (from GDP transcript)
• Genetic tests are quite variable. Some tests are quite clear cut and predictive and other aren’t at all. (GDP)
• Genetic tests provide information about family members and relatives. Disclosure of family information can often be helpful to family members but also can lead to breaches of confidentiality that must be considered and addressed proactively. Health care professionals have a duty to warn. In other words, privacy regulations underscore the provider’s obligation to maintain the confidentiality of medical information. However, if the information represents a significant, imminent and remediable threat to another person’s health, the provider may need to consider whether s/he has a duty to contact the person (or in the case of a minor, the minor’s guardian or legal representative, in the absence of explicit permission.
• Health care providers need to provide opportunities for their patients to express their reasoning and associated emotions in regards to testing. The most important goals of the counseling discussion is to ensure that patients have considered all aspects of the testing opportunity to his/her satisfaction in making this decision.
• All diagnoses carry with them other social, cultural and psychological meanings as filtered through the patient’s viewpoint and health model. The physician must simultaneously assess the medical information to be conveyed, the patient’s baseline perspective and comprehension of the new information, the psychosocial implications of the diagnosis for the patient, and the support systems the patient has. A strong-patient doctor relationship can help the patient gain a perspective on his/her disease.