The summary of this article and the article fail to even state their point clearly or fairly. I will wager that any test random of readers given this article to read will reveal it woefully misinformed readers in order to sound more dramatic.
Thanks Times. Genetic mutations indeed
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What? A genetic test results increased insurance payments? Here we have an example of how screwed up American health care systems are.
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It's nice to see this widely known issue among genetic counselors getting popular press attention. A lab's reclassification policy (as well as the threshold of evidence required to make an classifications) should be a key consideration when a physician chooses which lab to order through. They do not all have the same quality controls or systems in place to handle these kinds of updates. It's also important to note that most VUSs are downgraded rather than upgraded. Recent JAMA article: https://www.ncbi.nlm.nih.gov/pubmed/30264118
The headline is good click bait, like all headlines, but VUSs are appropriately considered innocent until proven guilty. Assuming pathogenicity without sufficient evidence can lead to other big problems.
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Great journalism. Super informative, easy to follow, and understand. *Thank you!
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The piece omits the distinction between gremlins mutations and somatic mutations, the former being clinically relevant and latter of more dubious relevance. Furthermore, implicit in the article is the impression that alterations in genetic material are necessarily of import as though “genes were a blueprint of one’s health destiny.” The role of the tissue environment surrounding any given mutation is not even mentioned!
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Thanks for highlighting this problem, Gina. This is a big issue for rare disease patients and advocacy groups as they work to find other patients with similar genetic mutations. Hopefully NIH projects like All of Us and the Undiagnosed Disease Network can help lead the way in developing a more systematic approach for re-analyzing genetic data and informing patients and families as new information becomes available.
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Clearly what we need, for this and many other reasons, is a voluntary national data-base for all medical data, tied to one's SS number. Of course it could be hacked, but that's better than dying.
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@Paul Adams- I don’t agree that we need a national database. I think we need a Federal agency, perhaps the CDC, to monitor these testing companies; set standards for naming genetic variants and their significance; and supply a source of up-to-date information for patients, doctors and researchers.
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@Paul Adams That's clearly not what we need.
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You cannot be serious! This sounds like a violation of privacy. Will people with genes deemed “bad” be prevented from having children? I could go on and on about this topic, but I think one can easily understand how such a policy has far greater negative implications than simply a violation of privacy.
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