Genetic Testing of Presymptomatic Individuals at Risk for Progressive Myopathy

Patients and their family members often ask about genetic testing for asymptomatic individuals who are at risk for developing a genetic disorder. Ordering a genetic test is a complex process involving consideration of many basic ethical principles including autonomy, beneficence, and nonmaleficence, as well as the physician's duty to act in the patient's best interest. Physicians have many choices regarding what tests to order, and they must develop the knowledge and skills to best discuss genetic testing with their patients. Integration of core ethical principles into these processes will permit physicians to best serve their patients when obtaining informed consent, considering advantages and harms of potential results, disclosing those results, and providing follow-up.