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

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