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Melissa in Australia

DNA data sharing

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15 hours ago, J-rap said:

Absolutely you can ask!  Mayo is very conservative in their testing.  They don't do random testing unless there is a clear reason.  They only do testing that they feel is justified by symptoms they can clearly see, which is often quite limited.


14 hours ago, TechWife said:

Thank you - that makes sense, especially given that insurance companies don't cover what isn't "medically necessary." They probably have to tie each part of the test to a specific symptom to justify the expense.

It could also be tied to a philosophy of treatment - that more data isn't always better.  It's easy to think that the only cost of data is money and time - that more data is always good, and that the only reason to not pursue more data is because of non-medical concerns.  But there are medical reasons for not going on fishing expeditions, too - more data isn't always a good thing. 

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FYI from PBS article today Researchers Comb Through Millions of Genetic Variants to Find Disease Risk

“Kathiresan’s vision for polygenic scores is one where they’re just one more common piece of medical information. Since the risk is determined at birth, he sees people getting genetic testing in early adulthood to generate a “report card” of their risk of various common diseases.

“In the future, people will know their polygenic risk for heart attack like they know their cholesterol now,” he said.

Calculating the polygenic scores requires knowing whether an individual has specific mutations. But that’s easier than it sounds. You can get this information from direct-to-consumer genetic testing services like 23andMe or Ancestry. The researchers are currently working on making their score calculator available to people who already have these genetic testing results on hand.

But they’re also in talks with companies to develop lab tests that can make these genetic tests available to everyone as part of the standard arsenal of diagnostic information available to health care providers. So, what might a doctor’s appointment of the future look like? The usual patient interview, lab tests, imaging — and now, polygenic scores.

“Polygenic risk scores are not currently used in the traditional clinical workflow,” Torkamani said. “They should be considered anytime a preventative medical decision is being made.””

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