Thursday, October 21, 2010

Unregulated DTCG saved my life.

Ok, so if Ellen Matloff hasn't flipped her bobbed haircut, 99245 without 60 min of MD care-insurance billing head yet, then this story will make her and the rest of the counselors who get mad when untrained MDs do BRCA testing flip out.

A woman's husband on DNADay takes advantage of 23andMe's rock bottom 99 USD fee. Clearly intended to double their database.....which it did

Only to have her HUSBAND open her results and

WHAMMO! You are a BRCA1 carrier! Mazel Tov! Not exactly the "fun" he had been looking for when he saw that flyer.....

Why does Myriad market to doctors? Their stance "We are missing a ton of BRCA mutations out there"

I agree.

So you would think I am happy that an unregulated DTCG testing company that the FDA pilloried finds a medically valid BRCA1 mutation that wasn't suggested by doctors.

Well, here's the shocker.

I am glad they found it.
Yes, thank god someone did before she had ovarian or breast cancer! If she would have, penetrance here is NOT 100% guys......

I am also glad that the woman who had the test was mentally stable enough and smart enough to seek professional help. I wonder what her husband and her do for a living?
I wonder if they are college educated. I wonder if there demographic is anything like the majority of the United States.....probably not....Oh wait. Princeton Grad, Prior Google Grad, CEO....yeah sounds just like my cousin Billy in Dushore PA (FYI I don't have a cousin Billy) But Dushore is in BFE.....

I am not glad that everyone is NOT like Mrs. Steinberg or her husband. In the right hands and with easy access to health professionals this works, sometimes........That is why the FDA has stepped in. Not everyone lives like the Steinberg's

Without professionals and without a level head, this could be a problem.

But the news story re-emphasizes what is crystal clear. This is an unregulated company that delivered a medical diagnostic. This result then drove clinical decision making.

Seriously. The DTCG BRCA test is a medical test. I think the FDA gets that part. Despite what DTCG says.

The Sherpa Says: I am happy for this woman. We need more testing, I agree with Myriad. I also think CGCs should be out teaching doctors rather than letting pharma reps do it. In fact excellent CGCs like Ms. Matloff should never see patients and should instead teach doctors how to do cancer counseling everyday. That is what is needed here, more education given to those who need it. Because clearly the doctors who told Mrs Steinberg (I assume she is AJ) that she wouldn't "need" genetic testing despite the family history of cancer are likely in need of some schooling.

1 comment:

Joi Morris said...

I agree with you that more women with a family history of breast and ovarian cancer need to be tested BEFORE they contract cancer but I respectfully disagree that genetic counselors should be training doctors rather than counseling patients.

I am a BRCA-positive woman who tested through my ob/gyn and I clearly do think that some doctors "get it" and are capable of identifying at-risk women and doing basic counseling. I also agree that with respect to some doctors I wonder what they are teaching them in medical school. As a peer counselor and an advocate for the high risk community it drives me nuts when I hear from a woman that he doctor has told her that her father's family history of breast and ovarian cancer does not place her at risk and that genetic testing is not appropriate for her. I heard from another one of these women just this week and in response I posted a cautionary tale on our PositiveResultsBlog ( today.

That being said, I worry about women finding they have a BRCA mutation through a DTC test. What a shock and without any educational or emotional support to deal with the information. I know there needs to be a balance between availability of the information and the professions that serve this community but I don't think cutting genetic counselors out of the equation is the right thing to do. My doctor, once I tested positive, spent nearly two hours with me explaining the test and result then sent me on to a genetic counselor and medical geneticist. It was the right thing for me. But I do think most women benefit from genetic counseling before testing, which is now available everywhere through at least telephone counseling, as they are better prepared for the results.