Tuesday, August 25, 2009

NIH Conference and Lightning Bolts!

Did anyone get to see the first day of the NIH Conference on the State of the Science in Family History taking? I just found out Tom Morgan was on the panel. Tom was the clinical fellow at Yale while I was a medical student. What I couldn't figure out was how many of those board members were Internists.......

That being said, you can watch day 2 at 830 AM EST

I want to get back to my comment from yesterday. The proponents of not having a heavy hand with these "disruptive genomic technologies" (Personally I don't see how technology from the late 90s is disruptive, their words, not mine) have always couched this rationale by stating ultimately there was not a lot of real harm to be done by releasing these weak risk results directly to the consumer.

I have to agree, while scary and scientific, they were more likely to walk away confused. There was a small risk of harm coming from this information. Which I was slightly concerned about.

But my biggest concern was, what doctors would do with this information. I really didn't want these tests out there because often a clinician is not as nuanced with genetic tests and they often don't understand the difference between a useful and not useful test.

They, like most of the public, view genes as discrete pieces of heritable material. Thus genetic reductionism "The Gene for Ankylosing Spondylitis=HLAB27" for DVT, MTHFR, etc. etc. I think you get my point. If you have any questions, you can just look at all the inappropriate HFE testing that went on for years and still goes on......

So when this report in Genetics in Medicine came out, I gasped when I read it.

What interventions were done? What care was changed by these doctors?
It is not so much that there were only a few doctors who had been engaged by patients, it was what they did WHEN engaged.

If this technology will become more widespread, what will the doctors do? I don't think it wise that we are releasing this testing into the wild where physicians can actually harm patients. The potential in this space is very, very scary. I can only imagine what resources will get over utilized or under utilized.

Why should the public be punished for physician shortcomings? I am not certain, but which punishment is worse? Lack of access to your genome OR lack of access to someone qualified to understand what the hell it means or doesn't mean.

There is a definite threat to public safety here.

How can we fix it? I think the first step is to all have the DTC companies be mandated to place labels like the cigarette makers stating that this testing "IS NOT TO BE USED FOR MEDICAL DECISION MAKING"

Secondly, I don't think marketing with the intention of inferring that it can be used medically is doing anyone any favors, and I would say that if you were harmed by the doctor relying on a nonmedical test you should sue the doctor. Which is precisely the position DTC Genomics loves to be in.

It is NOT THEIR BAD! But when you look at the marketing how can you not feel it IS THEIR BAD.

Now that we have some evidence that physicians are acting on clinically useless information, we have to protect those who could be harmed.


The Sherpa Says: These tests should have a moratorium on the DTC genetic testing until we can educate physicians and other healthcare practitioners. It's not like these companies are making record profits or anything, hell one went belly up just the other day. Isn't public health about protecting the public's health?


cariaso said...


I think I hear you saying this - "Cariaso is not allowed to look at his DNA until we get his GP up to speed on genetics".

Is that correct?

Steve Murphy MD said...

Not exactly. You have your data. I don't think we need a gatekeeper here, but we need one of these things........

1) these DTC companies need to CLEARLY STATE "THIS IS NOT FOR MEDICINE" I.E. Not to be used as a flotation device

2) Someone needs to have a public effort to engage about this lack of utility and how DTC should not be used I.E. Don't bring this to your doctor.....

3) DTC companies need to assume liability if this test does result in a bad outcome if they do not place HUGE labels on the package re: DTC not for Medicine
Like cigarettes

Otherwise, I think there needs to be a moratorium on DTC sales until this gets hashed out.

Why? Because when this penetrates the public market we will have a BIG RISK to the public, because we have failed to educate clinicians. Government's fault and mess, so they should clean it up. Profession's fault too and they too should clean it up.

There are several examples here, where the government encouraged removal of a test/treatment due to public health risk:

-HIV testing kits
-Ovarian Cancer risk testing
-Diet pills

This case is unique because it is a test that already NOT FDA approved.

IMHO marketing as if DTC genomics is to be used for medicine is akin to


This testing was brought to market prematurely and it was only a matter of time before doctors started inappropriately guiding therapy based on a test, which the patient has been primed to "think" is for medical care.

So, no, you should be allowed to look. But you should NOT be bringing this in to your doctor. Because most doctors are ignorant on this subject.

This is not a HUGE deal now because of the small numbers. But if the percentages are to be extrapolated, we could have big problems.

This is not your fault. It is not the patient's fault.

It is the marketing teams of these companies faults.

END OF STORY. Punish the companies until they change their marketing in such a way that they do not put the public at risk.....

Are you punished to protect someone else?

Maybe, but what did you gain that outweighs the risk of harm?

Anonymous said...


PLoS Medicine: The Dawning Era of Personalized Medicine Exposes a Gap in Medical Education http://bit.ly/dbnBA