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Genetic Linkage

Good and Potentially Bad about FDA's Greenlighting of 23andMe Direct-to-Consumer BRCA Mutation Tests

News that consumers will soon be able to purchase a genetic test for three BRCA mutations may seem like déjà vu. That's because it is.

This is the second time that direct-to-consumer genetic-testing company 23andMe has offered screening for the mutations linked to breast cancer. The difference now from when it was yanked off the market in 2013? FDA approval.

That's huge. Read More 
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How Genetic Testing Guided My Breast Cancer Journey – To Eschewing Beef

Two months ago, I joined a club nobody wants to be a member of – the 1 in 8 women who develop breast cancer at some point in their lifetimes. It turned up on a routine mammogram.

I’m happy that it’s okay these days to talk about breast cancer – when my mom first had it in 1988, that wasn’t true. I haven’t thought much yet about marching and holding a sign next October for Breast Cancer Awareness month. I don’t have the strength to hold a sign right now, but I’m trying to help by explaining things on the Facebook groups of “pink sisters” I’ve joined recently. Many of their questions concern genetic testing.  Read More 
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Dueling BRCA Databases: What About the Patient?

The news release Monday morning grabbed my attention:

“Study finds wide gap in quality ofBRCA1/2variant classification between Myriad Genetics and a common public database.”

Myriad Genetics had been exclusively providing the tests, for $3000+ a pop for full BRCA gene sequencing, for 17 years before the Supreme Court invalidated key gene patents back in 2013. Since the ruling a dozen or so competitors have been offering the tests for much lower prices. Meanwhile, Myriad has amassed a far deeper database than anyone else, having been in the business so much longer. And it’s proprietary. Read More 
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Genetic Testing For All: Is It Eugenics?

(NHGRI)
In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA cancers, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses from DNA in the maternal bloodstream.

Are these efforts the leading edge of a new eugenics movement? It might appear that way, but I think not.

When I began providing genetic counseling 30 years ago at CareNet, a large ob/gyn practice in Schenectady, NY,  Read More 
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