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Presymptomatic and Early Symptomatic Genetic Testing

Kang, Peter B. MD

CONTINUUM: Lifelong Learning in Neurology:
doi: 10.1212/01.CON.0000396969.13188.0d
Ethical Perspectives

ABSTRACT: This article presents a hypothetical case of a boy with early symptoms of Becker muscular dystrophy whose family wishes to defer genetic testing because of concerns about genetic discrimination. The possibility of genetic discrimination in this case is discussed, especially in the context of the Genetic Information Nondiscrimination Act (GINA) that took effect in 2009. GINA protects individuals who are asymptomatic, not those who have "manifested disease." The patient under discussion has symptoms, albeit subtle, of Becker muscular dystrophy, and thus would be regarded by most observers as having "manifested disease." Thus, there appears to be no disadvantage for a patient under these circumstances to have genetic testing, and the neurologist should advise such patients to have confirmatory genetic testing performed.

Author Information

Address correspondence to Dr Peter B. Kang, Children's Hospital Boston, Department of Neurology, 300 Longwood Avenue, Boston, MA 02115,

Relationship Disclosure: Dr Kang has received personal compensation from Gerson Lerhman Group; Gross, Minsky & Mogul, P.A.; L.E.K. Consulting, the Massachusetts Medical Society; the US Department of Health and Human Services (Health Resources and Services Administration); and the US Food and Drug Administration (Neurological Devices Advisory Panel). Dr Kang has received grants from Harvard Medical School, Harvard University, the Muscular Dystrophy Association, the National Institute of Neurological Disorders and Stroke, and the Spinal Muscular Atrophy Foundation.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Kang has nothing to disclose.

© 2011 American Academy of Neurology