Building A Bridge From Direct-to-Consumer Genetic Tests To Reality

A recent op-ed by genetic counselor Laura Hercher illuminated a sticky situation in which more and more consumers find themselves.  Matt Fender ordered a spit kit from direct-to-consumer (DTC) genetic testing company 23andMe, downloaded his raw data, and ran them through a third party service called Promethease, which can help consumers make sense of their raw data.  Fender’s Promethease report highlighted a genetic variant in the raw data that, if truly present, would place him at very high risk to develop an early-onset form of Alzheimer disease and would alter the course of his life.

Fender found himself in a gap where thousands before him have fallen, and where even more will end up if the estimates that 100 million consumers will have DTC genetic testing by 2021 are correct.  Namely, he had information in his hands that could be either accurate medical information or dead wrong.  Why?  At a consumer’s request, some DTC companies release raw genetic data that has not been verified under the umbrella of genetics ‘entertainment’ (or genutainment). This means that these raw data are not complete or ‘medical-grade’ genetic information; however, they can, and sometimes do, reveal serious and accurate medical information.  Fender wanted to learn if his result was accurate, but he had a difficult time getting the confirmatory medical-grade test he needed because he had no personal or family history of this disease.

Health care providers, as a whole, do not have the time, training, or desire to wade through these lengthy reports to help consumers decipher if DTC test kits and raw data findings are accurate or not.  And, importantly, insurance companies most often will not cover these consultations or repeat testing if, like Fender, the patient has no personal or family history of that disease.  So, how do we throw down a line to consumers stuck in this abyss?

Since being blocked by the FDA from returning health information in 2013, some companies have worked with the agency on a process through which they can return some health information directly back to consumers.  For example, 23andMe is again releasing the three common Jewish BRCA1 and BRCA2 variants (3 of thousands of pathogenic BRCA variants, also known as mutations) to consumers. They recommend that all consumers then repeat that testing through their health care provider in a medical-grade laboratory, which lands those consumers in the abyss. Until now.

Forward-thinking insurer Blue Shield of California has stepped up to the plate. Under the leadership of genetic counselor Stephanie Gandomi and Director of Enhanced Clinical Programs, Henry Garlich, Blueshield implemented a medical policy that covers confirmatory testing in a medical-grade laboratory for any insured who has received a positive Ashkenazi Jewish BRCA finding directly from 23andMe.   Perhaps at some point in the future, they and other visionaries in the field will expand medical policies to include confirmatory testing for patients who learn of other potentially important genetic findings on their DTC raw data analysis.

How can the FDA help in this effort?  The FDA could require DTC genomics companies, like 23andMe and Ancestry, to share how frequently they observe genetic findings on their DNA tests. In Europe, this may already be required under GDPR policies. These critical data would provide a simple way to determine if the frequencies of genetic findings via these company tests are out of whack with what is expected in the general population, therefore helping providers who interpret these raw data to determine if consumer findings are likely accurate or errors.  For example, if a genetic change seen in 1 of 100,000 people in the general population is reported in 1 of 100 consumers by a certain company, there may be reason to suspect that section of the company’s test is inaccurate. The FDA could also provide strong guidance to DTC companies to sponsor pathways for consumers to receive both inexpensive confirmatory testing, and guidance, support, and information from unbiased third-party genetic counselors and companies, like mine, that can provide a bridge from DTC testing to the real world. 

One thing is clear: we have long passed the point of return on DTC testing, seeing that more than 15 million consumers have already engaged in this process.  What we need now is a path forward.  Luckily, those paths are beginning to emerge and may allow consumers and their health care providers to make smarter, cheaper, and better decisions about their medical management based on genetic findings that would likely otherwise have been missed.