Knowing when to pursue Friedreich's ataxia genetic testing
George Wilmot, MD, PhD, advises doctors on when they turn to genetic testing during the Friedreich’s ataxia diagnosis process.
About George Wilmot, MD, PhD
George Wilmot, MD, PhD, is a board-certified neurologist affiliated with a few hospitals, including Emory University Hospital. He also serves as an associate professor at Emory University School of Medicine’s Department of Neurology and adjunct associate professor at the the school’s Department of Pediatrics. He is an ataxia clinical researcher and he started the Cooperative Ataxia Registry.
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Transcript
Genetic testing is very good for Friedrich’s ataxia. And so I think it ought to be relied on very early in the process.
I think if there is clinical suspicion of Friedrich’s ataxia, as soon as there is clinical suspicion, a gene test is appropriate. That would be in balance along with clinical findings by the provider that are suggestive of Friedrich’s ataxia — for instance, lack of reflexes, decreased vibration or joint position sense, so-called dorsal column function. Certainly somebody with a family history, like a brother or sister who’s already been diagnosed, as soon as there seems to be some abnormalities in balance, that would be a good time to send genetic testing.
There’s really no reason to wait on that. If it’s in the differential, it can be ruled out with a genetic test quite easily or ruled in with a positive test. And so that ought to be sent quickly.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.