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The FDA and Personalized Genetic Testing

single nucleotide polymorphism SNP
The company 23andMe provides personal genetic testing from a convenient home saliva sample kit. Their home page indicates that their $99 genetic screening will provide reports on 240+ health conditions in addition to giving you information on your genetic lineage. The benefits, they claim, are that you will learn about your carrier status and therefore the risk of passing on genetic diseases to your children. The information will also inform you about health risks so that you can change your behavior to manage them. Finally the genetic information will tell you about how you might respond to different drugs so that you can “arm your doctor with information.”

The home page also contains a link to testimonials about how their DNA testing has changed people’s lives.

This all sounds great – the promise of genomics that we have been hearing about now for about two decades. Isn’t this exactly what we were led to expect once we mapped the human genome?

Why, then, has the FDA recently sent a warning letter to 23andMe instructing them to discontinue marketing their Personal Genome Service (PGS)?

The primary reason appears to be a lack of documentation for the validity and reliability of the tests, but I have concerns that go even deeper. (more…)

Posted in: Public Health

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Hope and hype in genomics and “personalized medicine”

“Personalized medicine.” You’ve probably heard the term. It’s a bit of a buzzword these days and refers to a vision of future medicine in which therapies are much more tightly tailored to individual patients than they currently are. That’s not to say that as physicians we haven’t practiced personalized medicine before; certainly we have. However it has only been in the last decade or so that our understanding of genomics, systems biology, and cell signaling have evolved to the point where the vision of personalized medicine based on each patient’s genome and biology might be achievable within my lifetime.

I was thinking about personalized medicine recently because of the confluence of several events. First, I remembered a post I wrote late last year about integrating patient values and experience into the decision process regarding treatment plans. Second, a couple of months ago, Skeptical Inquirer published an execrably nihilistic article by Dr. Reynold Spector in Skeptical Inquirer in which he declared personalized medicine to be one of his “seven deadly medical hypotheses,” even though he never actually demonstrated why it is deadly or that it’s even really a hypothesis. Come to think of it, with maybe–and I’m being very generous here–one exception, that pretty much describes all of Dr. Spector’s “seven deadly medical hypotheses”: Each is either not a hypothesis, not deadly, or is neither of the two. Third, this time last week I was attending the American Association for Cancer Research (AACR) meeting in Orlando. I don’t really like Orlando much (if you’re not into Disney and tourist traps, it’s not the greatest town to hang out in for four days), but I do love me some good cancer science. One thing that was immediately apparent to me from the first sessions on Sunday and perusing the educational sessions on Saturday was that currently the primary wave in cancer research is all about harnessing the advances in genomics, proteomics, metabolomics, and systems and computational biology, as well as the technologies such as next generation sequencing (NGS) techniques to understand the biology of each cancer and thereby target therapies more closely to what biological abnormalities drive each cancer. You can get an idea of this from the promotional video the AACR played between its plenary sessions:

Which is actually a fairly good short, optimistic version of my post Why haven’t we cured cancer yet? As I mentioned before, with this year being the 40th anniversary of the National Cancer Act, as December approaches expect a lot of articles and press stories asking that very question, and I’m sure this won’t be the last time I write about this this year.
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Posted in: Basic Science, Cancer, Clinical Trials, Diagnostic tests & procedures, Politics and Regulation

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