FDA’s Paradigm Shifting Approval of the First “Non-Diagnostic” Test  
​[Posted on: Thursday, April 13, 2017]

Last week, FDA cleared for marketing the first direct to consumer genetic test by 23 and Me and by that changed the way most genetic tests could be approved in future. Genetic tests have been controversial and challenging mainly because the conclusions drawn from genetic markers are seldom definitive. It has been almost 15 years since the human genome was sequenced. Thousands of genetic markers have been linked to hundreds of diseases and conditions but it has also pointed out the remarkable complex nature of human biology where genes are one of the several factors that influence our well being. While it is well established that genetic factors are altered in conditions both in healthy and unhealthy individuals, it is also equally understood that diverse factors such as lifestyle, diet, environment, and infections influence the same conditions. So genetic markers at best can only point towards the probability of the occurrence of a given condition. Only in a few cases have genetic sequences been directly used for diagnostic and prognostic purposes. However, human curiosity to know more about oneself trumps logic. Ancestry, paternity, physical traits, and other similar genetic tests have become very popular in the last decade. So have numerous genetic tests offered as lab developed test or LDTs that claim to diagnose a multitude of conditions in neonates to adults. FDA’s efforts to regulate genetic tests have had limited success, if any, and it seems to have run out of options. By allowing a new class of tests, called the “General Health Risk” or GHR tests, FDA has opened the gates to a broad category of tests that can be used by common public to find out if they have the genetic probability of getting a given disease or condition. The GHR tests are marked as “Non-diagnostic” in nature and the consumer is advised to not read too much into the results but talk to their physicians before taking any measures to address the concerns. Since there was no predicate, FDA used the de novo 510k pathway to approve the first test paving the way for all similar tests in future to use the traditional 510k for approval. Also, the company is free to expand the uses to additional diseases without needing to file additional 510k applications since the core technology of isolating DNA from saliva will not change, only the link between the markers and a given indication. FDA warning to the consumers to not read too much into the results of these tests will have mixed outcome. While some consumers may use these tests for educating themselves, most consumers will likely take these tests a lot more seriously now that they are approved by the FDA. By approving the GHR tests, FDA has lifted the one stigma attached to such tests that was limiting their market. This will encourage all other developers of similar tests to seek formal FDA approval and flood the market with GHR tests fueled by the consumer appetite. This is clearly an encouraging sign for the developers of genetic tests and should encourage more LDTs to seek formal FDA approval. But by allowing such “educational tests” FDA may just have opened the Pandora’s Box.