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Compliance In Focus
Posted by Michael Marotta on Wed, Aug 6, 2014

Wading in a Sea of DNA

Wading in a Sea of DNAOn August 5, 2014 we introduced that the field of personalized medicine has grown rapidly and has encompassed both the field of genetic testing and mobile health apps.  Today we take a closer look at direct-to-consumer genetic testing.  It took thirteen years for the first draft of the human genome to be completed.  In the eleven years since this monumental accomplishment the field of genomics has grown exponentially.  And the fruits of this growth are multi-faceted: tests for disease association, risk, diagnosis, treatment; the list goes on and on.  However the implications for the results of these tests are far-reaching and have a direct affect on both the individual person and on the greater collective.  In the wake of this rapid development of genomic knowledge and increasingly more powerful computers and equipment capable of processing this information, many companies have formed to provide direct to consumer, relatively low cost personalized genomic information.  And with the creation of these companies, the FDA has taken a closer look at the information being disseminated to the consumer.

One such personalized genomics company is 23andMe.  Up until late 2013, a consumer could select a $99 package whereby an individual could have both their ancestry and genetic risk for 254 diseases/conditions analyzed.  On November 22, 2013, the FDA issued a warning letter for treating the genetic kit as an unapproved medical device.  23andMe was not the first genomics company to receive notification from the FDA.  The FDA’s website lists fourteen letters to genomics companies related to DNA/Genomic tests.  In this November warning letter to 23and Me, the FDA’s issue surrounded the health-related interpretation of genomic data, not the genomic data itself. The concern can be divided into four areas and surround how an individual’s actions may be affected by the interpretation of results:

  • Evidence of Accuracy – This refers to how well a risk-associated trait has been tested and whether all potential variants for risk  are captured in a test
  • Risk associated with False Positives / False Negatives
  • Concerns if test results are not adequately understood by patients
  • Could drive consumers to extreme steps (unnecessarily) or alter prescribed treatment

In a response to the evolution of the FDA’s stance regarding the role of the FDA and genomic health, an editorial was written and published in the 16 January 2014 edition of the JournalNature.  Entitled “The FDA is overcautious on consumer genomics”, the editorial argued that the FDA cannot reasonably regulate indirect information as medical devices and suggested that a precautionary approach may pose a greater threat consumer health.  In support of their argument, the authors provide evidence from a number of studies involving surveys given to people receiving consumer genomic results.  The results of these surveys showed little measurable change in anxiety or psychological health for individuals receiving consumer genomic results.  The authors do concede that there are legitimate concerns for direct to consumer testing such as:

  • A lack of standards for validating hundreds of simultaneous variant calls
  • Controversy on evaluating risk across multiple variants/ethnicities
  • Direct to consumer results not the same as physician testing

One particular study interested in how direct to consumer genomic data may influence consumer behavior is the Impact of Personal Genomics (PGen) Study. In a 2013 publication by this group in the Current Genetic Medicine Reports Journal, the authors found that when reviewing literature from 2011-2013 regarding direct-to-consumer genetic testing; neither the benefits nor worst fears of this type of testing have materialized. However with affordable genetic testing still in its nascent stage there is still a great deal of room for how this type of information will be evaluated at all levels (FDA, Company, Consumer).

In the case of 23andMe, on 20 June 2014 a press release was published indicating submission of a new 510 (k) application to the FDA involving Bloom syndrome.  This submission signals the start of what the company views as the beginning of many future submissions and “an important step in our work with the FDA in the coming months”. It also offers a clue towards the route other direct-to-consumer genetic companies may take in an effort to remain successful and work within the framework of US regulations.  This submission comes on the heels of a previously written report that 23andMe was considering international expansion in response to the strengthening of US regulations governing this field.

In Part Two of this series we will evaluate another aspect of information versus interpretation of information when we discuss the role of the FDA in overseeing Mobile Medical/Health Applications. Stay tuned.  In the meantime, please provide your thoughts on the growing field of direct to consumer genetics – do you think the currents regulations appropriate, too vague, or potentially too stringent?

Photo Credit: ynse

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Topics: Personalized Medicine, DNA, 23andMe, FDA

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