Wednesday, September 9, 2009

The problem with nonclinicians.......

There is a huge set of people involved in the clinical DTC genomics game who are arguing that what they do is not medicine. Some of these people aren't even employees for these companies.

There is a fantastic comment string over at Daniel MacArthur's Blog Genetic Future.

Basically, from what I gather, Sigmund who is assume is a PhD Geneticist is telling me about clinical value and utility. He also is scolding me for using SNPs for the BRCA genes as clinical tests

"The fact that you see 23andme snps as valid for confirming a BRCA1 or 2 mutation status is, frankly, disgraceful."

What he doesn't know is that the DNA are not really SNPs per se.....they are mutations

i4000377, i4000378, and i4000379




Look familiar?

These the Ashkenazi BRCA1/2 Founder mutations which are often tested for FIRST in people of Ashkenazi Jewish Ancestry....... PRIOR to Full SEQUENCING.

These 23andMe Mutations are precisely at the heart of what I argue is a silicon valley company trying to practice medicine without a medical license.

But the problem with Non-Clinicians is that they don't know clinical medicine, so how could they argue that something IS NOT clinical medicine?

Does that make any sense to you. Maybe if they could say, "Yes, I know clinical medicine by studying for 12 years" But if they do that, then they become clinicians in some regards......

But in usual Gene Sherpa fashion, I quickly disqualify people who do not know clinical medicine from arguing once they demonstrate their lack of knowledge in the clinical space.

Are you serious? The standard of care for ASHKENAZI jewish people with a high likelihood of carrying a BRCA mutation is to start with these SNPs.

You sir are officially disqualified from learned discourse in the clinical realm. Rather than address my questions about what you define a clinical test to be, you try to play straw man by stating something I did not argue all the while not answering the question.....

You are wrong. I am correct. This IS a clinical test, used ALL the time via a CLIA certified lab. Whether it be Myriad or Yale.

They check for the same biological sample and the presence of the same DNA......

I am an excellent clinician and don't need to defend myself to someone who obviously doesn't know the clinical standards of care in cancer genetics.....

God Speed in your quest to endanger the public.


So if you want to watch a fiery debate about who is doing medicine tune in to Daniel's Blog

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