Genetic Testing: FDA & The Importance of Getting it Right

jbeck.jpgSeveral months ago, I broached the issue of direct-to-consumer genetic testing in PD. There, my message was that you should look before you leap and take the time to understand what genetic testing would tell you (and whether you really wanted to know it). Implicit in that discussion is the need to have accurate results. This is different than the desire to have the weather forecaster tell you if it is going to rain or not tomorrow. For most people, inaccurate weather predictions are a nuisance more than anything.

However, when genetic information is inaccurately reported, the consequences can be more severe. When people are incorrectly told that they have high risk for cancer or other conditions, it can lead to life-altering decisions. That underlies the reason FDA sent a “warning letter” to 23andMe ordering the company to discontinue marketing their Personal Genome Service to the public pending regulatory approval. 23andMe is expanding their gene testing to include, among other genes, BRCA-related genes that are linked to high risk of breast and ovarian cancers. The picture FDA paints in their letter is their concern for someone who might needlessly undergo prophylactic mastectomy as a result of their 23andMe results.

Concern over the accuracy of direct-to-consumer genetic testing has been brewing for some time. In 2009, Craig Venter, Ph.D., and his colleagues published an editorial in the prestigious science magazine Nature that depicted many discrepancies in the gene testing performed by 23andMe and Navigenics [read the full text here]. This raised a call for concern among the editors of Nature. The Government Accountability Organization released a report in July 2010 detailing discrepancies in several direct-to-consumer testing companies. This report described how direct-to-consumer testing could potentially be inaccurate and misleading. The timing of the release of that report coincided with FDA public meeting on the oversight of laboratory tests including direct-to-consumer genetic testing. The outcome of that FDA-initiated dialogue culminated in the letter sent today.

Regardless of how one feels about direct-to-consumer testing, one thing that should prompt ready agreement is that test results involving personal health should be as accurate as practically possible. With FDA’s action today, we are continuing to move closer to that goal.

2 thoughts on “Genetic Testing: FDA & The Importance of Getting it Right

  1. Richard Windle

    The main role of the FDA seems to be to stifle innovation. Regulatory approval? This is the organisation that oversees a process whereby it takes up to fifteen years for a drug to move through all the different stages of testing and trials. Many of us who have PD today will either be dead or beyond hope if we are subject to these timescales. Let’s ensure that things are done right but let’s get out of first gear and get on with finding a cure.

  2. James Beck, Ph.D., Vice President, Scientific Affairs Post author

    For further reading, I suggest a nicely balanced view of the issue at Nature

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