DTC in a Gene Sequenced World (part 2)

July 22, 2010

The DTC (Direct to Consumer) lab testing saga continued today with hearings by the House Committee on Energy and Commerce.  The tone was set by

  1. an undercover investigation done by the GAO showing that at least some of the companies in the DTC  space are not doing a good job in counseling the public and
  2. the observation that many of these DTC companies provide results for the same patient with wildly different conclusions.

Congress members were understandably unhappy.  Listening to the GAO calls on youtube, one could argue that at least some of the companies deserve to be in the hot seat.

The fact that the DTC tests all get different answers in some areas is not really surprising.  I suspect that all are based on some peer reviewed publications based on US Government (NIH) funded research so it is probably wrong to characterize it as bad science or “entertainment value only”.  The fact is that we are in the early days of understanding a very complex system…understanding will certainly improve but some interpretations of a person’s genome, like risk of diabetes, will be far more dominated by lifestyle than genes.  These DTC companies getting in early are certainly not providing as much value as they could in the future but are trying to grab a position is what could be a very large market (and could provide a lot of value to consumers).

For a very rational viewpoint see the statement by James Evans (editor-in-chief of Genomics in Medicine).  He nicely summarizes the opportunity:

“I do not feel that it is paternalistic to ask that the public not be deceived by exaggerated claims, that their privacy be protected, that tests be of high quality and that they have recourse to unbiased information about the meaning of their results. Regulation does not mean proscription. We can embrace an exciting future in which the public has access to its genomic information but we should do so in a responsible manner and risk-calibrated regulation is part of the answer. Indeed, it seems obvious to me that the interests of companies and the public are actually fully aligned since both their long-term business interests and public’s health will thrive only when tests and the claims made for those tests are trusted.”

The trick is going to be having the FDA not regulate DTC testing out of existence.  As I said earlier, in a world of cheap sequencing, prohibiting consumer interaction with their own genomic information may be easier said than done.  Also, the technology is moving so fast that waiting for a set of mutations to be approved by the FDA for DTC use could mean that the test is out of date by the time it is approved.  In that case, why would a company bother?  Maybe future path could be regulation of the underlying test technology platform (this gene sequencing technology repeatable and reliable) and some process for “approving” the interpretation (this set of mutations is approved by the FDA as a highly reliable indicator, this set is recognized by the FDA as potentially useful but other sets of mutations can give wide variations in results, etc).

Added  2010/7/23:

There is a very good rebuttal of the GAO report from 23andme.  Makes a lot of sense and makes the GAO report seem biased.  They agree that some FDA oversight is needed and rebut a number of the oversimplifications of science.  I hope that the congresspeople involved take the time to understand these nuances.

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