Presymptomatic and early symptomatic genetic testing

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.