Genetic testing pitfall: Major genetic company missed 50,000 cancer screenings

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As fun as it is to find out where your great-great-great grandparents came from, the real promise of genetic testing is in the realm of disease. By screening for the genetic markers associated with hereditary disease, people can make proactive, potentially even life-saving decisions about their health. That is, as long as the tests are accurate.

The genetic testing company Invitae is under fire after a client pointed out a genetic test had mistakenly missed a rare mutation linked to hereditary colon cancer in one patient. While the patient had the genetic variant associated with Lynch syndrome, the test came back negative. Now the company is re-testing 50,000 blood and saliva samples in order to find out how widespread the false negative screening was.

While this error was relatively minor—impacting only a handful of people with a rare marker for a disease they may never even develop—it highlights a troubling problem.


…“There is a perception that, because it is ‘genetics,’ that there is a deep certainty. But it is still a process that can involve errors,” [said Tim Caufield, a law professor and expert on genetic testing at University of Alberta.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: A Genetic Testing Company Just Screwed Up 50,000 Cancer Screenings

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