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Why you may need a second, or even third, opinion on your genetic test results

| | July 17, 2018

[Radiology resident Joshua Clayton] sent a sample of his saliva to 23andMe, the genetic testing company.

His report was pretty mundane — no new revelations. But then he sent the profile created by 23andMe to a separate company called Promethease, which promises to do a more in-depth analysis for genetic mutations that cause disease.

The news was not good. Dr. Clayton got back a report with a sinister red box at the top saying he had a mutation linked to Lynch syndrome, a frightening genetic disorder that leads to potentially deadly cancers at an early age.

After two weeks of panic and yet another genetic test at a company with expertise in medical diagnostics, he learned the red box result was wrong. He simply didn’t have the mutation.

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In one small study, Ambry Genetics — a lab certified to do medical testing — looked at 49 samples sent in by physicians whose patients had been told that they had disease-causing mutations by third-party interpreters.

Ambry found that 40 percent were wrong. In addition, some genetic variations classified by second companies as threatening actually were benign.

Greg Lennon, a co-founder of Promethease, said that the company’s reports include a disclaimer saying the data are “not intended for medical or health purposes.” Customers are warned to seek out “an independent, clinically validated test.”

Read full, original post: The Online Gene Test Finds a Dangerous Mutation. It May Well Be Wrong.

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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