Changing interpretations, stable genes: responsibilities of patients, professionals, and policy makers in the clinical interpretation of complex genetic information.

Except in rare mutation-inducing events, the primary sequence of an individual's somatic genome is static; however, the interpretations or risk predictions based on complex genetic tests now being introduced into the marketplace are rapidly changing. The reality of changing interpretations for stable test results creates questions for everyone involved in genetic testing including individuals, clinicians, laboratories, professional organizations, and regulators. Individuals should be aware that their relationship with laboratories providing genetic testing may be different from their relationship with their physician, especially in direct-to-consumer testing. Moreover, individuals may need to take the initiative to revisit their genetic test results periodically. Clinicians will need to learn how to read and interpret the results of complex genetic tests, remember that interpretations change over time, and understand when to refer patients to specialists and ask for second opinions and reinterpretation of genetic information. Testing laboratories should understand that they may be replacing the clinician as the direct contact for patients, and may have responsibility to inform clients of changes in test interpretation. At minimum, laboratories should make clear what their policies are regarding reinterpretation and allow tested individuals to seek outside interpretations of their genetic test results. Professional organizations and regulators have the responsibility to develop guidelines for clinicians, laboratories, and the general public. In the future, the interpretation of genetic tests may be relatively stable; until that time, the changing interpretation of static genetic test results will create an important set of professional and ethical challenges.