Genetic Testing the Undiagnosed Rare Disease Patient

Robert Nussbaum, M.D.

Robert Nussbaum, M.D., chief medical officer at Invitae, a genetic testing company, describes the 2 most common scenarios regarding the genetic testing of a undiagnosed rare disease patient.
In the first scenario, the person has a rare disease but the clinicians are unfamiliar with the disease and cannot diagnose it. In this case, testing genes associated with a given symptom / disorder (i.e., seizures) may be appropriate. In the second scenario, the person is suspected of having a genetic disorder. For those patients, whole exome analysis may be more appropriate.

Dr Nussbaum also noted that medical insurance may pay for the genetic testing to be performed and in cases where they do not, patient assistance programs are available.
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