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Genetic Testing of Presymptomatic Individuals at Risk for Progressive Myopathy

Simmons, Zachary MD, FAAN

doi: 10.1212/01.CON.0000511073.81209.24
Ethical and Medicolegal Issues

ABSTRACT 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.

Address correspondence to Dr Zachary Simmons, Department of Neurology, Penn State Milton S. Hershey Medical Center, Pennsylvania State University, EC 037, 30 Hope Dr, Hershey, PA, 17033,

Relationship Disclosure: Dr Simmons serves on the editorial board of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration and has received personal compensation as senior associate editor of Muscle & Nerve and for serving as a consultant for the ALS Association Greater Philadelphia Chapter; Cytokinetics, Inc; and Neuralstem, Inc. Dr Simmons has received research grant support from the ALS Association; Biogen; Cytokinetics, Inc; and Sanofi Genzyme.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Simmons reports no disclosure.

© 2016 American Academy of Neurology
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