Monday, December 09, 2013

Those genetic tests


Amy Docker Marcus, WSJ, Nov 19, 2013, talks about the wave of genetic testing in the country.

To know or not to know--that is the question.

A big home test company recently trailed off on offering testing--because the results would not be interpreted by a physician, among other reasons.

People who do get tested can in some cases become what the industry calls "patients in waiting." They wonder with every twitch if "their" fate is coming true. They know they have a genetic propensity.

BUT--they may never ever get the disease.

One little girl tested for cystic fibrosis--she kept going to the doctor--he would say she looks fine. Her parents were afraid to expose her to colds in preschool--what to do, what to do.

Cystic fibrosis is a good example of a condition that really has no cure. They even came up with a long technical name for the "pre" CF condition. But even patients with this offiicial sounding name--CRMS--are in limbo and may never get the disease despite all the worrying, doctors, and uncertainty.

Another thing they test for is a genetic disease of the heart muscle called hypertrophic cardiomyopathy. These pre-patients can get a defibrillator implanted--but, as one doc said, for a condition that may never materialize, this is hard to justify.

No kidding.

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