BRCA


Should Genomic Screening Be Standard of Care? with Adam Buchanan, Geisinger

Those of us watching every shift in the level of adoption of genomic medicine have our eyes closely glued to Geisinger Health System in Pennsylvania.

Adam Buchanan is the Co-Director of Geisinger’s MyCode Genomic Screening and Counseling program, and today we talk to him about the rationale of making genomic screening part of routine medical care.

The MyCode program—which to date includes over 200,000 participants and has returned actionable results to over 1,000 patients—is an "opt-in" program at Geisinger, so it’s not exactly like getting your cholesterol or blood sugar tests which are routine for most of us. But Adam says Geisinger has made it quite “easy” and part of the system.

What exactly is included in the screen, and what genes top the results reports? Are other health systems around the U.S. following Geisinger’s lead? Are there other nations ahead of the U.S. when it comes to genomic screening?

In the middle of the interview, we spend time on population-wide BRCA screening for women 30 and over. Is Adam for it?

At one point, Adam mentions the boom in DTC testing. Is this "self screening", and are health care providers prepared for these patients when they walk in the door?

Ellen Matloff on a New Digital Genetic Counseling Product for DTC Customers

If Mendelspod had an annual Product of the Year award, we'd certainly be liking for 2018 the one featured today, a digital genetic counseling product for direct-to-consumer genetic testing.

Hats are off to Ellen Matloff, a genetic counselor formerly at Yale who saw the DTC boom coming a few years ago, busted out of academia, started My Gene Counsel, and last month launched her first digital product.

We can sit and pontificate about the pros and cons of giving consumers access to DNA tests based on limited scientific studies and with little to no FDA oversight, but Ellen is taking action on behalf of consumers who are every day getting this information. She is offering them basic help as they sift through those reports and what can be frightening data.

The big question here: how to let all those consumers buying up DNA tests on Black Friday know about this resource?

As for 2019, Ellen says it’s figured out. She’s singing in the Super Bowl.

September 2018 with Nathan and Laura: Studying the Same Genes and the Matt Fender Story

And here we were thinking it was a slow month!

We have two big stories today: first this philosophy of biology question about whether it’s a bad thing that we’ve been stuck circling the wagons ‘round the same ole genes. Is it just an economic question? Or is it that these are the most active genes, and so we need a meritocracy, as Nathan puts forth?

As if on time to answer this question, there’s a new project out this month to synthetically engineer 4,000 copies of a very studied gene, BRCA, which has Laura and other genetic counselors excited. As she explains, it will help with the problem of reducing variants of unknown significance.

And second, we discuss the fallout of Laura’s tour de force article in the New York Times and follow-up Beagle podcast about a young web developer, Matt Fender, who had a real scare with his 23andMe data. Theral says the story sounded an alarm at just the moment many of the field's KOLs are becoming relaxed about regulating DTC tests. Nathan says the story shows that the system is working.



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