Jon Steinberg » How 23andMe Saved My Wife

Beginning today, you’ll see an interview that Jill and I did for CBS. You can click below to play it.

It’ll play this week all over local news stations.

On a flyer, like many of you, I ordered two 23andMe DNA kits on World DNA Day. Jill’s came back with the BRCA1 mutation, which drastically raises the lifetime odds of breast cancer to 80%. With cancer in her family, we met with specialist throughout the city and took the preventative steps described in the segment.

We did this testing by chance. But we’ve become huge advocates of it in conjunction with counseling, repeat testing, and a study of family history. The surgery is a rough one, but as Jill put it: “it’s that or cancer.”

Anyway we wanted to share this, as we feel that testing is important for those, who are at risk. We believe it’s extended Jill’s life to a normal ripe old age, and we wanted people who weren’t aware to get this information. Please don’t hesitate to reach for me or Jill if this is something impacting your family. We just went through it can’t thank our surgeons Dr. Freya Schnabel and Dr. Jamie Levine, as all the wonderful nurses and counselors. It’s been very tough, but being on the side is an enormous relief.

If you’re having trouble loading the video, its also here:

http://newyork.cbslocal.com/2010/10/12/healthwatch-home-genetic-testing/

Alexander Ainslie (@AAinslie)

Wow Jon, I wish I had read this a year ago. Never thought of getting this test for my wife or myself for that matter. Now that I know, I will evangelize.My wife, Cris, was diagnosed and operated for breast cancer in September here in Paris. Tough road ahead.All the best to Jill and yourself. Feel free to ping me the next time you guys find yourself planing a European trip.http://twitter.com/aainslie
Jon Steinberg

Really appreciate it, and our thoughts and prayers are with you and Cris as well. Was she a BRC carrier?
Aaron Cohen

very good stuff Jon. Will watch video, but I think this is important.
Vinicius Vacanti

Thanks for sharing Jon. Hopefully will encourage others to get these sort of tests.
M.S.

More detail is absolutely needed for this story, to avoid serious potential misunderstanding. 23andme and other genetic testing companies do not look for “mutations” in genes, they test anonymous genetic markers some of which lie in or near genes. Without knowing exactly what markers they use it is hard to say, but in principle they should not be able to detect true BRCA1 or 2 mutations, that normally requires full gene sequencing as done by Myriad in the USA, which is not part of the test. In contrast, full genome sequencing a la commercial services of Compleat Genomics or Illumina could find true new mutations. If all 23andm3 did was find “risk factors” then that is VERY different and not anywhere near reliable. No reason not to get further testing, but the takehome message is not that everyone should go do the same thing expecting to be “saved”.Disclaimer: I am a research geneticist and former employee of a genetic diagnostic company. I am not promoting any specific company or service, just commenting on general genetic principles. The same critique would be true if for example 23andme claimed to have found “mutations” in the cystic fibrosis gene – again that normally requires gene sequencing not genotyping with anonymous markers.
M.S.

More detail is absolutely needed for this story, to avoid serious potential misunderstanding. 23andme and other genetic testing companies do not look for “mutations” in genes, they test anonymous genetic markers some of which lie in or near genes. Without knowing exactly what markers they use it is hard to say, but in principle they should not be able to detect true BRCA1 or 2 mutations, that normally requires full gene sequencing as done by Myriad in the USA, which is not part of the test. In contrast, full genome sequencing a la commercial services of Compleat Genomics or Illumina could find true new mutations. If all 23andm3 did was find “risk factors” then that is VERY different and not anywhere near reliable. No reason not to get further testing, but the takehome message is not that everyone should go do the same thing expecting to be “saved”.Disclaimer: I am a research geneticist and former employee of a genetic diagnostic company. I am not promoting any specific company or service, just commenting on general genetic principles. The same critique would be true if for example 23andme claimed to have found “mutations” in the cystic fibrosis gene – again that normally requires gene sequencing not genotyping with anonymous markers.
George

M.S., the 23andMe genotyping chip includes the three Ashkenazi Jewish BRCA mutations – the 187delAG and 5382insC mutations in BRCA1 and 6174delT in BRCA2. These mutations are not included in the Myriad/University of Utah patent.The three mutations are associated with increased risk for breast and ovarian cancer. This is well documented in numerous studies.Also, it’s incorrect to say that “full genome sequencing” is required. You always start with targeted analysis for know mutations. Many times no further test will be required.
Jon Steinberg

Thx george. No idea where ms gets his data—
Jon Steinberg

I suppose you don't believe in global warming either
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