Friday, March 25, 2011

Non-Clinician Misinterpretation of DTC Genetic testing


In case you haven't all figured it out. Blogs are dead. Mine is too, sorta. I have less and less time to blog as my practice explodes. But there are some things that just merit a blog post.

I am on twitter, you can follow me there @genesherpas

But now I am on the Sherpa. Yes, the blog that nearly got me on 60 Minutes and definitely won me the hearts of USA Today to be interviewed...BTW the practice got super busy after that......

Today I want to talk about something more serious.

The FDA hearings have laid the course clear. Direct To Consumer Genetic testing will be regulated.

1 part potential harm
2 parts irreverence for laws and medical regulation
3 parts flagrant misrepresentation of what genetic tests can do.......

Today on twitter Shirely Wu @shwu retweeted something that was the picked up by @dgmacarthur..... great geneticist, but not a medical geneticist........

That was:

A thoughtful and eloquent case-study petition to keep genetic testing DTC: from @

The problem?

I respect Shirley a lot, but this article is not thoughtful, nor is it eloquent.
Instead it is full of misinterpretation and IMHO an ignorance of the role of genetic testing in hereditary hemochromatosis.....

In no way is HFE genetic testing required or indicated to pick up a person with hereditary hemochromatosis.

There are multiple genes involved in hereditary hemochromatosis only testing HFE and thinking you are "off the hook" is stupid.....

In other words, perhaps the cheerleaders for DTCG are misinformed about the true utility of this type of testing. Further, if they knew the literature, perhaps they would be less angry that the FDA(who know the data BTW) want to regulate against these types of misinformed claims that could lead to misinterpretation by consumers and end up fleecing their pockets for fools gold.

Let's take this little gem from @celticcurse

"A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes."

Bull$h!t buddy.....less than 30% of HFE variant persons ever develop the disease. Do me a favor, partner with a doctor to hack your health next time please......

In case you wondered, iron studies are the key to screening. I get them in every northern european or any family history of liver disease, gonadal failure, arthritis, etc......

But, the lab heads wouldn't know that. Which is why lab heads shouldn't release discoveries into the wild......

The Sherpa Says: This retweet blog post by CelticCurse is an eloquent reason WHY DTC genetic testing should be regulated for claims and use......regulate the medical as a medical test, let the ancestry buffs do their thing sans FDA. End of story guys.....


Samir Damani said...

Steve, I couldn't agree with you more. Both on the blogs, but especially on the need for regulation. This will push physicians to use this data. I still believe DTC testing has a role to play in motivating patient if and only if it is place in the right context in a patient-physician relationship.

Congrats on your booming practice. I'll be out in New York this summer on business and would love to get together to discuss the future of genomics in clinical practice. Take care and talk to you soon.

Steven Murphy MD said...

Thanks Samir.
Look forward to hearing from you soon.

Mark Wanner said...

It's interesting how many of those opposed to FDA regulation of DTC genetic testing ignore the fraudulent marketing issue.

Razib Khan's commentary in his Gene Expression blog on fueled a huge response, for this field at least. Just about everyone was focused on the "hands off my genomic data" end of things though. I have sympathy for this perspective, and if you want to pony up the $$$ and don't have misgivings about privacy and security issues and understand that the data provides data, not knowledge or understanding--yet--go right ahead.

But currently DTC genomics will tell a patient next to nothing that's of any medical use, and some of the marketing for the tests is going beyond silly to downright criminal. I don't see how the FDA can stand aside, especially when the research is changing the landscape so quickly every year.

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