Comments on: Transparency First: A Proposal for DTC Genetic Testing Regulation

By: jeffrey dach md

jeffrey dach md — Tue, 01 Jun 2010 11:42:54 +0000

Whether or not to do genetic testing can be a complicated question. Sometimes it is very useful, sometimes not. Genetic testing may be useful for family planning. When parents have knowledge of their carrier status, they can take precautions to prevent a severe a genetic disease in the unborn child. Downs and CF are the obvious examples here. This may lead to difficult moral and ethical questions when applied to the unborn child.

In some cases gene testing is useful to confirm a diagnosis in an adult, such as alpha 1 anti-trypsin deficiency in the asthmatic patient, or to confirm hemochromatosis in the patient with elevated ferritin. Gene testing may be useful to predict future disease risk, such as cancer risk with BRCA genes, so that preventive measures can be taken.

In some cases, genetic testing is either redundant or simply not useful. For example, there is no reason to do genetic testing for type two diabetes when the fasting blood sugar is already abnormal and is a more useful marker. There is no reason to do genetic testing for famiial hypercholesterolemia when the routine lipid panel provides this information. Likewise, there is no reason to do genetic testing to determine eye color or hair color when a simple examination provides this obvious information. Many health issues have environmental causes with no clear genetic markers. Autism may ultimately fall in this category.

Very soon, the cost for routine whole human genome sequencing will become cheaper, and some day will be offered during routine clinical testing along with the CBC, blood count and chemistry panel.

For More: http://jeffreydach.com/2008/05/05/understanding-online-genetic-testing-by-jeffrey-dach-md.aspx

jeffrey dach md

By: Austen

Austen — Wed, 26 May 2010 13:33:54 +0000

Hey Dan,
I spotted you on Technology Review. We used to play rugby together back at Duke. Anyway I’m seriously pissed about what’s going on in New York with respect mandating the use of Doctors in genetic testing. Please do something about this.

Also I recently got my mom sequenced with 23andMe —-the information already available is pretty interesting.

By: Observer

Observer — Tue, 25 May 2010 23:30:25 +0000

Steve Murphy must be one of the most resentful people on the web. Like a villain out of an Ayn Rand novel, he truly does seek to use government to hamstring and obstruct those who are resourceful, entrepreneurial, and innovative. It is to marvel at. Rand’s heroes are assuredly unrealistic but her villains are all too real.

By: Kirell Lakhman

Kirell Lakhman — Tue, 25 May 2010 12:27:14 +0000

If we’re to assume the guidance (lower-case ‘g’) will come from FDA and not NIH or FTC, I’m not going to start holding my breath just yet. The agency is still miles away from fulfilling the No. 1 priority laid out in its Transparency Initiative, which it updated a couple of weeks ago: “The public, Congress, media, and industry should all understand how FDA operates and why the agency makes key decisions.” (Only 1/3 in jest, isn’t it funny how it’s our responsibility to “understand” the FDA, rather than its duty to ensure it’s actions are as clear as possible?)

http://www.fda.gov/downloads/AboutFDA/WhatWeDo/FDATransparencyTaskForce/TransparencyReport/GlossaryofAcronymsandAbbreviations/UCM212110.pdf

By: Dan Vorhaus

Dan Vorhaus — Tue, 25 May 2010 04:57:13 +0000

Thanks for all of the wonderful comments, which I am just now having the opportunity to read. A few very quick replies:

@Kirell: I think the rules are inevitably going to change mid-stream. That’s part of the cost of doing business in an emerging industry, and the trade-off is the first-mover advantage enjoyed by companies already on the market with established brands. The question is how, exactly, the rules are going to change. I think there’s still plenty of room for discussion there.

@Steve: Quite right; this post is intended to be a jumping off point for discussion. Once we have collected more data both about what is being offered and how it is used (including potential harmful uses which, at least to my knowledge, are largely or exclusively hypothetical at this point) it would be appropriate to explore what, if any, additional regulatory steps are needed.

@Daniel: I agree with your points, and I would also add that an incentive for certain DTC companies NOT to participate in the database would be the fear that their products or services do not compare favorably to those of their competitors. Even a relatively low threshold to participate would not result in the right levels of uptake in this scenario, which I think is all the more reason to make it mandatory – and for DTC industry leaders to push for this result, provided that it can be structured in a way that will not make reporting and disclosure obligations too onerous.

By: Steven Murphy MD

Steven Murphy MD — Mon, 24 May 2010 23:56:29 +0000

Come see Muin Khoury’s magic blimp! Free drinks for all!
I can see it now. This paired with Kathy Hudson and investor Sarah Palin in their magical 9 day open bar. That should just about do it. Oh, no, they’ll need a PR firm to land them on the cover of Time and to Hob knob with Pope-Rah, chill with Murdoch and rock with Cheryl Crowe. Oh and don’t forget Ivanka T. Yo! Fo Reaalllllzzzzzzz!

Yeah I can see NIH and the CDC all over that!

By: Daniel MacArthur

Daniel MacArthur — Mon, 24 May 2010 22:06:08 +0000

Hi Kirell,

A voluntary database will be useful only if two conditions are met: (1) the time burden imposed on companies seeking to register in the database is low; and (2) the database is sufficiently well-publicised that it becomes a de facto entry point for most customers interested in DTC genetic testing.

In the event of a voluntary database the equation for DTC companies will be pretty simple: which is greater, the cost of entering the database, or the loss of customers that would occur if the company remained unregistered? If either of the two sides of that equation aren’t satisfactorily met by the database it will be a complete failure.

But in order to become a substantive entry point for DTC consumers the database will need to be extraordinarily visible. So how confident can we be that an NIH-run database can gain more publicity among potential DTC customers than, say, 23andMe can attract directly to its website via its own advertising budget? I don’t know about you, but my confidence is pretty low.

My suspicion is that this equation means that any voluntary database containing useful information is doomed to failure. As such, although I’m somewhat philosophically opposed to a mandatory database, I think it’s the only viable solution for increasing transparency in the industry – and I agree completely with Dan that it is transparency, not tight regulation, that is the answer here.

By: Kirell Lakhman

Kirell Lakhman — Mon, 24 May 2010 19:42:10 +0000

I think Misha and Steven missed my point. I also believe, as Misha writes, that “a mandatory database would be significantly less burdensome than CLIA certification.” What I had said was a voluntary database would be preferable to both because it would be *least* burdensome.

By: renatam

renatam — Mon, 24 May 2010 19:42:00 +0000

Great post, Dan – as always! Have to agree w/”Gene Sherpa” – for once – as well! But, I am just a lowly consumer stakeholder at the bottom of the food chain.

By: Steven Murphy MD

Steven Murphy MD — Mon, 24 May 2010 19:10:21 +0000

I agree with Misha. But that still doesn’t answer the questions regulators want to know. By showig their wares so to speak, we can begin to see if it indeed IS medical and thus needs FDA regulation. I like Dan’s post, it is a starting point, but not a solution to the question at hand.