Sunday, April 17, 2011

How and Why the FDA Should Allow DTC Genetic Testing

At the beginning of this month, the FDA extended the period to submit public comments about Direct-To-Consumer (DTC) genetic testing to the Molecular and Clinical Genetics Panel of the Medical Devices  Advisory Committee (referencing docket ID FDA-2011-N-0066 at http://www.regulations.gov).  For more information on this topic, please check out this post from The Spittoon (the official blog for 23andMe).

I just submitted a comment to the FDA (which is essentially a shortened version of this blog post).  You can currently view my comment here using Google Docs, but I do not currently see the posting on http://www.regulations.gov (I will work on verifying that the comment was successfully uploaded).  In fact, there were only a few comments posted after the original 3/1/2011 deadline, and I do not see any new comments posted after the extension of the comment period that occurred on 4/1/2011.  If you have not already done so, please submit a comment before the new deadline on May 1st!

In many ways, I think DTC genetic testing companies are similar to medical websites like WebMD (which is an idea I first remember seeing in this blog post comment).  I personally think it would be a great disservice to society if websites like WebMD, Mayo Clinic, and MedlinePlus were banned because they provide medical advice to the public without consultation with a physician.  Likewise, I also think it is very important that people be able to learn about their own genetic information without having to consult a physician (although I would certainly encourage people to seek advice from medical experts if they feel the need to do so).  Although all doctors do not agree that patients should have access to DTC genetic tests, there are also some doctors that dislike WebMD.  I do not believe this is a valid reason to ban either type of medical information.

I want to emphasize that I do not oppose any sort of FDA regulation.  For example, companies that intentionally mislead people should be penalized (as one example, check out this post on My Gene Profile by Daniel MacArthur).  However, I do not think the FDA should ban companies who are transparent in their actions and are basing their analysis of published, peer-reviewed scientific research.

I think there is sufficient evidence to show that most people will have reasonable reactions to their results (for example, check out this research article in New England Journal of Medicine).  However, I think it might be helpful for the  FDA to help classify which test results clearly require medical action and which ones are "research" grade tools that connect people with findings in the medical literature.  In an earlier post, I discussed how a "3-tier system" might be able to help accomplish this.  Essentially, we currently do have "clinical" tests and "research" tests, but I think formalizing some sort of system to distinguish between such tests could be useful (especially if it helps provides a way to maintain DTC genetic testing without the need to require physicians act as a gatekeepers for this information, or if it prevents these tests from being outright banned).

In general, I think it is important for individuals to have access to a variety of opinions in order to think critically when making medical decisions.  It is not good to blindly trust any source of information - whether that information comes from a doctor, a DTC genetic testing agncy, a government regulatory agency, or a scientist (like myself).  I strongly believe that people should have access to second opinions about their genetic tests (through tools like Promethease).

I think the FDA could also potentially help improve genetic testing (for both DTC and non-DTC tests) by helping provide people access to secondary sources of information.  For example, I think it would be fine for the FDA to force companies to allow users to export their data in a standard format in order to allow people to easily get second opinions about their genetic testing results.  Strictly speaking, I don't think this is necessary - for example, there are 3rd party web apps that help users learn more about their 23andMe results (such as this Firefox app), and Promethease already helps users search for annotations from SNPedia (although there is a $2 fee if you want your results quickly).  However, I don't think it would hurt to have a standard format that applies to all genetic testing companies.

In fact, a standard format for sequence data from genetic tests could provide a useful framework for a collaboration between the FDA and NIH to fund development of of a free tool for people to analyze their genetic information.  For example, MedlinePlus is an excellent resource provided by the NIH, and I think it could be really cool of the FDA would work with the NIH to help people analyze their genetic information similar to the way MedlinePlus provides traditional medical advice   If such a collaboration were to take place, then I think it would also be fair to require genetic testing companies to provide links to this 3rd party tool (as well as other tools, if they choose to do so).  This could be helpful both in terms of helping people think more critically about their results and I think it could be a good way to fund research on how to best convey genomics research to the general public and incorporate publicly available data into a single risk assessment provided by this free, 3rd party tool.

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