Chapter 7 - Direct-to-Consumer Genomic Testing - The Pros and Cons


    I am often reminded of how quickly the biotech world moves as I look back at my FDA law blogs from 3 years ago.  This week I am re-publishing my article about Direct-to-Consumer (DTC) genomics testing.  DTC genetics testing and counseling is now a veritably large industry, having been given an increasingly and has grown up from its controversial beginnings a few years ago.  DTC companies essentially market genetics tests on TV, print advertisements or the internet.  Customers can send the company a sample of their DNA and a short time later they receive results.  These can be tests for a variety of purposes from genealogy tracing to searching for blood relatives to providing information about healthy lifestyles. 

    The most contentious has been the tests for disease risk and health.  Genetics testing can reveal a variety of diseases you may carry in your genes such as cystic fibrosis, sickle cell anemia, celiac disease, Parkinson disease and Alzheimer disease.  The NIH has provided a set of well-written, easy to understand guidelines to teach people considering whether they should use the test.  The implications are huge for health insurance companies since they could benefit from charging a premium for those who merely carry genes for pre-existing diseases.  Right now, health insurance policies generally do not cover DTC testing.  Only if a doctor prescribes the test kit can insurance cover some of the costs.

    Today, there are dozens of leading DTC testing companies that offer testing for diseases – not just ancestry.  Chief among these is 23andMe, a Silicon Valley biotech that has been at the center of much FDA wrangling over the years. The FDA has officially approved up to 16 genetic disease tests for 23andMe as part of an initiative to keep up with the times.  Ten of those tests were approved in April 2017 and the genetic tests for breast cancer genes, BRCA1/BRCA2 were approved earlier this year.

    Back when I wrote this blog, 23andMe had just been barred by the FDA from distributing whole genome genetic testing for consumers.  This, of course, did not stop me! I went ahead and ordered my own genetic test just to see what diseases I had a higher chance of getting. Details of how I did that can be found here:

    It remains to be seen where the FDA will go with this matter.  As many have remarked it is not practical for the agency to approve only one single genetic test for one disease at a time.  Sooner or later DTC will have to be available to consumers for the whole genome, for all diseases.


    Blog from 2015:

    DNA testing has emerged in recent years as a powerful diagnostic tool for physicians to use in the race to find better cures for intractable diseases.  The advantages of more precise diagnoses based on a patient’s underlying genotype and the ability to prescribe drugs tailored to an individual’s genetic makeup have made personal DNA testing an attractive new industry. Spurred on by government initiatives under the Obama administration to enhance personalized medicine and technological innovations both in software and in molecular biology, there has been an unprecedented growth in DNA diagnostic companies all over the world.  One company, the Louisiana based Renaissance RX, was, until recently, tipped as a rising star in the pharmacogenomics sector. 

    Renaissance started out in 2012 as a small toxicology laboratory called UTC laboratories which took cheek swabs, and saliva for DNA analysis.  As the company grew, it started to enroll patients into a wide variety of studies, testing for an individual’s propensity to develop adverse reactions to pain killers and anti-clotting drugs.  The program was called “Diagnosing Adverse Drug Reactions Registry (DART)” and it made money by charging patients $75 to sequence every sample.  Renaissance aimed to enroll 250,000 patients for its studies and had garnered $130 million from Medicare as well as $55 million from a venture capitalist company TPG.  This allowed the company to grow its workforce to 800 people by 2014 and gather grant money from the New Orleans City Council to further expand its operations, as part of the region’s tech industry rejuvenation initiative.

    Signs that the company faced trouble emerged shortly after the TPG investment last year when Medicare withdrew its investment support following a routine review.  The DART study was stopped shortly afterwards causing a layoff of hundreds of employees.  While many physicians happily participated in the program, sending out multiple patient samples, one physician named Scott Wilson, discovered that Renaissance was engaging in fraudulent behavior, ignoring regulations.  According to Wilson,

    “[Renaissance Rx] generated revenue by and through each ‘swab’ it/they conducted within the context of the DART Study, including, without limitation, by and through the use of erroneous and/or fraudulent Codes on the eCRFs to fraudulently bill the conduct of the trials to Medicare/Medicaid,”

    Wilson found out that he was signed on as the Regional Principle Investigator for the DART study without his knowledge.  Furthermore, his signature was faked on thousands of additional patient samples illegally enrolled in the study and through this practice Renaissance may have earned an estimated $10 million on top of its regular revenue.  Wilson is suing Renaissance for misappropriation of his name and potential civil liability for the loss of his ability to practice medicine.  The case is due to be held at the United States District Court for the District of Rhode Island, where Wilson is registered as a physician.

    In recent years, federal regulators have become increasingly worried about the lack of regulation of Direct-to-Consumer (DTC) testing.  In 2014, the Office of Inspector General for the Department of Health and Human Services stated that many laboratories could be committing fraud to recruit doctors and patients into DNA studies.  Companies often offer huge amounts of money enticing doctors to enroll patients on studies, rather than paying them the small amount necessary for reimbursement.  Part of the problem is that Medicare has not applied a stringent oversight on these companies as it went ahead in funding such operations.  Medicare should pay due diligence to where its funding goes because its function is to generally back proven treatments rather than experimental tests.  Another problem lies in the fast growth of genomic technology.  Contractors who work for Medicare cannot keep up with reviewing all the details within each company since their technology has evolved so rapidly and there are now so many of them.  At some time national guidelines must be set up by the FDA to promulgate rules for regulating testing at these facilities. 

    Interestingly, the FDA has taken initial steps towards this challenge.  Recently a company called 23andMe, one of the first consumer genome sequencing companies in the US, was banned by the FDA from offering customers general genetic disease diagnoses based on genomic information submissions using its health algorithm.  The FDA sent a warning letter in 2013 stating that 23andMe had failed to gain market clearance or approval to assure their tests were accurate.  On the other hand, the FDA granted authorization to the company this year to carry out specific Bloom Syndrome carrier reports.  This was the first direct-to-consumer genomic test that the FDA has ever approved through a regulatory framework.  According to Alberto Gutierrez, a director at the Center for Devices and Radiological Health of the FDA, “The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information”.

    While the promise of genetic testing holds great value for many diseases such as cancer, diabetes and Alzheimer disease, more work needs to be done by the regulatory authorities and by the federal government to ensure consumer protection.  It seems likely that DNA diagnostics kits may one day be sold and marketed as over-the-counter drugs given the ease with which they can be used.  Thus the same regulations will need to be applied to them for safety and efficacy.


    Renaissance Rx Lawsuit


    Blood Syndrome carrier reports

    Direct to Consumer Genomics Testing

    Obama’s Precision medicine initiative

    NIH Guidelines

    FDA Guidelines for DTC in Breast Cancer and 23andMe