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FDA seeks to regulate home gene tests
DNA strands from a double helix model
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The brave new world of medical entrepreneurship offers us this vision of the future: Buy a $100 kit at a local pharmacy, send off a sample of your saliva, get your own personal genetic profile back complete with information about which disease or condition you might be susceptible to. Walgreen's got a lot of attention a few weeks ago when it said it would start selling the kits. Then, just as quickly, it said it wouldn't, after questions were raised about the safety and effectiveness and overall wisdom of that idea. Today the FDA stepped in.
By Gregory Warner
The FDA sent letters to five companies saying that direct-to-consumer genetic tests are now considered medical devices and are subject to regulation by the agency. At issue is whether the tests are delivering medical information.
Jesse Reynolds with the Center for Genetics and Society in Berkeley, Calif., says tests promise to tell you how you might respond to certain drugs or what your risk is for certain cancers.
"But they've thus far avoided regulation by claiming -- in their fine print -- to be recreational or educational in purpose," says Reynolds.
One company, 23andMe, responded in a statement its tests are for research and education only. Another company, Pathway, already stepped out of the consumer market because of FDA pressure.
"You know, if you go into the hospital and you get a test there, they regulate those tests as medical devices already," says Daniel Carpenter, a professor of government at Harvard who wrote a book about the FDA.
The market for genetic testing is exploding. Lab fees for genetic tests are expected to exceed $6 billion this year. Dan Vorhaus, who writes the blog Genetic Law Report, says regulating over-the-counter tests will stifle innovation and raise prices.
"What we need right now is better transparency not more regulation," he says.
But regulation could end up helping the companies involved. Walgreen and CVS Caremark have all said they won't put the kits on the shelves until the FDA gives its blessing.
There's still one genetics test you can buy at Rite Aid -- a paternity test.
Dear Adele,
This is Ramji Srinivasan from Counsyl here -- we spoke a few weeks ago at the ACMG conference. As you'll recall you referred us to your director of business development about partnering with the Victor Centre. I find it interesting that we went from possible partner to "outlaw" in a few weeks, but perhaps this is to be expected given that we ended up working with other labs! :)
Please note -- I do understand that new genomic technology endangers your current model of low-volume, extremely high cost blood based testing. That's why we're working with labs like yours and others to ease the transition into the genomic age.
However I don't think it's appropriate to make false claims in a public forum, and I'd like to clear the record.
1) First, the study which you cite to establish a missed carrier rate of "11%" has a total N of 35 carriers, of which only 31 were detected by DNA. Needless to say, the power of this study is very low, yet you present this uncritically as an 89% detection rate without even reporting the confidence interval! [see footnote a]
2) Second, as David Brenner (Executive Director of the Dysautonomia Foundation) personally informed you just a few weeks ago, we have been doing blood based Tay Sachs send-outs for interfaith couples to complement DNA based testing for some time. [see footnote b]
3) Third, an accepted peer reviewed manuscript on the test by authors from Harvard, Stanford, Yale, and Counsyl establishing sensitivity and specificity for the conditions assayed will be coming out later this month; a preprint is available here: http://precedings.nature.com/documents/4192/version/1.
4) Fourth, I don't think you can seriously dispute that the Universal Genetic Test is by far the most comprehensive assay available. It is regrettable that you chose to misrepresent the facts; as you know, your testing paradigm requires blood rather than saliva and currently offers zero percent detection rates for all these conditions at much higher cost.
In summation, I think it is unfortunate that you've chosen this path; I know that there are many at the Victor Center who disagree with your hostility to genomics, and I recommend that you have a frank internal discussion.
Sincerely,
Ramji Srinivasan
CEO, Counsyl
650-733-4363
Footnotes
[a] The standard binomial proportion estimate (http://en.wikipedia.org/wiki/Binomial_proportion_confidence_interval) yields the upper bound of the confidence interval at 95.4% -- which is also in line with NCBI's own estimate of 98% (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1218#tay-...).
[b] It is well known that DNA test detection rates for Ashkenazi Jewish couples are >99% [e.g. Bach et al. http://www.ncbi.nlm.nih.gov/pubmed/11170098], and that TSD blood testing is primarily indicated for interfaith couples and/or couples with at least one or more grandparents without Jewish ancestry. Hence it is simply not true that "11% of carriers in the Jewish community" would not be detected; the blood based TSD test is actually most applicable for those outside the community.
Loved your story. I am a clinical geneticist who is tormented by these DTC tests. There is a company, Counsyl, who is doing all medical tests and they need to be exposed to the FDA. They claim to do testing for 100 diseases and most of those tests have a detection rate below 10%. To me they are doing false advertising in claiming to do 100 valid tests. In addition, a pet peeve of mine relates to Tay-Sachs testing. All these labs do DNA only and we know that more than 11% of carriers in the Jewish community will be missed if the enzyme level is not examined. That is the best way to find carriers but it needs blood and a biochemical test that none of the DTC labs is doing. I would love to talk to you more about this subject. You can reach me at my office 215-456-8724. Thanks.
