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Complicating it all is the fact that molecular autopsies—and DNA tests in general—too often come up inconclusive…
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The uncertainty has, in a way, gotten worse as DNA sequencing technology has gotten more comprehensive…A mutation in one gene might kill someone; a different mutation in the same gene might have no effect. Sometimes, even the same mutation in two people don’t behave the same way.
“There’s one thing worse than telling these families we don’t have an answer,” says [Mayo Clinic doctor Michael] Ackerman, “and that one thing is telling them we have found the genetic cause when we in fact we have not…That’s a mess.”
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As genetic tests become cheaper and more popular, interpreting the medical information they contain will get even more vital. Molecular autopsies just underscores the challenge, which does not end even with death.
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: When Genetic Autopsies Go Awry