The Results of Your Genetic Test Are Reassuring. But That Can Change.


A federally-supported database, ClinVar, permits laboratories to publicly share information on genetic mutations and what they’re thought to imply. However some firms, like Myriad, which host large databases on genetic mutations, don’t contribute to ClinVar.

Even the terminology for DNA variants is probably not extensively shared. Completely different labs have totally different naming schemes.

For instance, ClinVar renders one DNA variant this fashion:

NM_004004.5(GJB2):c.101T>C (p.Met34Thr).

However one other lab does it like this:

c.101T>C, p.Met34Thr, GJB2.

Sufferers trying to find data on their very own “wouldn’t make sure what to sort into ClinVar,” mentioned Dr. Heidi Rehm, a scientific geneticist at Massachusetts Normal Hospital and the Broad Institute.

Along with the terminology drawback, Dr. Ross mentioned, there’s a drawback of discordance amongst labs.

When one massive lab “reviews a reclassification and the opposite labs don’t, and you’ve got relations who get examined at totally different labs, we’ve totally different interpretations of the identical affected person information,” Dr. Ross mentioned. “How can we cope with that? What can we inform our sufferers?”

Labs like Myriad typically notify a health care provider who ordered a genetic take a look at when the outcomes had been reclassified. However even after they do, docs might not be capable of attain and inform their sufferers.

“I’ve modified my follow location over time, and my sufferers have moved,” Dr. Plon mentioned. “I’ve obtained up to date reviews for sufferers who now not reside in Houston, and we do not know the place they reside.”


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