Implications of DTC Genetic Testing: A Personal Genomics Journey, Part Three

Having my genome sequenced has resulted in some unexpected opportunities, not the least of which is going through this experience when two far-reaching events have taken place in the direct-to-consumer (DTC) testing world.

The first event was the Food and Drug Administration (FDA)’s decision to allow 23andMe to begin to provide the results of genetic tests for disease risk directly to their customers. This is a story that has been unfolding since 2013, when the FDA sent 23andMe a warning letter that prevented the company from providing results for risk alleles – variant forms of genes – for conditions like Alzheimer’s disease and hypertension. In my last blog post, I mentioned that while the results I received when I had my whole genome sequenced did not specifically report my results for the APOE gene associated with increased risk for Alzheimer’s, I could readily find out the results. The FDA decision shifted the landscape drastically, especially since in addition to having my whole genome sequenced, I’d also undergone 23andMe testing, hoping to compare the two services. Within a few days of the regulatory changes, I received an email from 23andMe stating that the results of my risk for three (and soon to be 10) chronic diseases are available through my profile at their online portal.

Even having spent a fair amount of time over the past few months – likely more than most people – considering whether I want these kinds of test results, I hesitated. Then I looked. Turns out that I do have one APOE4 allele, which is associated with increased risk for Alzheimer’s disease. It was unsettling to see. It made my stomach sink a bit. And as I’ve pointed out all along, I’m coming from the advantage of understanding the limitations on the kinds of interpretations that can be gleaned from these test results. Even so, it was a very blunt experience, one I’ve shared with only one other audience before sharing it here. For at least a moment, it removed the intellectual distance that until now I’ve been able to maintain as I’ve gone through this experience. Suddenly, what these tests could mean to people who are less aware of the complexities of interpretation became very, very real.

The second major event was the introduction in the United States House of Representatives of the Preserving Employee Wellness Programs Act (HR 1313), which would allow employers to incentivize employees to participate in workplace wellness programs that include genetic testing in order to receive significantly lower health insurance premiums. Some are concerned that this bill would allow employers to discriminate on the basis of genetic predisposition for disease – and it makes the topic of how to govern DTC genetic testing particularly timely.

Engaging in the Debate

There are no easy answers, but in April, I had the opportunity to debate Barbara Koenig – a formidable opponent – about whether genetic test results should be provided via online portals directly to consumers. The hope was that we could shed some light on key questions and concerns.

Our audience was made up mostly of members of the Precision Medicine Student Alliance, an interdisciplinary group of UCSF students interested in precision medicine. At the outset, the vast majority was in favor of providing genetic test results directly to consumers via online portals, which was my stance for the purposes of the debate. By the end, however, the vast majority had switched to undecided. This was the perfect outcome, because it indicates that we brought to light the complexities around DTC genetic testing – complexities that even students in health care professional schools with a specific interest in precision health had not fully appreciated.

In the debate, we touched on a couple of key points. One, some research shows that patients can interpret genetic tests and understand that the results are not determinate – in other words, they can understand that having an allele of a gene that increases risk for a given disease, in most cases does not mean with absolute certainty that the individual will develop the disease. Accumulating evidence also shows that individuals generally do not experience harm as a result of receiving the results from genetic testing. I would add that individuals are autonomous. Where we should draw the line with regard to what kinds of information we are entitled to know about ourselves is a long-standing subject of debate. We currently lie in this strange nexus in which the genomic technologic capabilities are here, but it is still pretty early to understand fully how genomic testing will affect individuals and groups.

On the subject of groups, one issue I find quite provocative is how genomic testing will affect health equity. At present, many academic medical centers provide genome sequencing and other genetic testing services. For example, UCSF recently launched a whole exome sequencing service through its Clinical Laboratory Improvement Amendments (CLIA)-approved clinical labs. Other health care organizations like Mayo Clinic provide comprehensive health services that incorporate genomic tests. However, both academic medical centers and “executive health” elective screening programs are really only available to subsets of the population. Access is limited by geographic location, disease severity (academic medical centers often see “the sickest of the sick”) and socioeconomic status (services like Mayo Clinic’s Center for Individualized Medicine are not likely to be reimbursed by insurance providers). Yet some of these services and tests are actually quite affordable compared to many of our clinical diagnostics.

Moreover, the cost for many consumer-targeted tests is just a few hundred dollars, substantially lower than the cost of many routine tests used in clinical practice. Saliva samples used for genetic testing are easily obtained and stable, and can be transported by mail, eliminating geographic barriers. Further, DTC companies are required, and sufficiently resourced, to develop tools that do not require a high level of health literacy for results interpretation. It makes me wonder whether these kinds of tools can be adapted to the clinical realm in order to address perpetual challenges to delivering care that is appropriate and sensitive to underserved groups. Certainly, the potential for genomic technologies to further exacerbate health disparities exists, but I believe that if we are thoughtful about how to use these technologies, they might actually have a meaningful impact on decreasing health disparities. How, exactly, this might look, I don’t know. But I certainly think it’s a conversation we should pursue.

I took many other things from that debate and that day. I was gratified by the fact that Barbara Koenig and I agree on most aspects of the DTC question. There are certainly tremendous uses for genomics in clinical practice, but the myriad ethical and social considerations are far from worked out, even as the regulatory and legislative stories continue to unfold. And I achieved some peace of mind from seeing an entire auditorium of future health care providers actively engaged in dialogue about the ethical and social implications of genomic testing as they apply to the dual role we all play as patients and consumers. We need the voices of those in direct contact with patients providing perspective on the consequences of regulations and legislation for patients. And we need to be engaged in how regulatory and legislative decisions are made. The reason should be apparent to all – with these technologies imminently possible, it’s our responsibility to proceed in a conscientious and careful manner, drawing on data from rigorous studies, and with safeguards in place to ensure protections.

This is especially so because these technologies are placing more information and decision-making power in the hands of the patient than ever before. Many are already carrying their genome on their tablet device – along with all kinds of other physiologic and behavioral data. My goal in having my own genome sequenced and sharing my experiences is to build capacity in our current and future health care provider workforce, so they can thoughtfully and actively engage in this paradigm shift. Nurses may need this information more than any other group, as we are the largest segment of the health care workforce, with the most time and opportunity to help patients navigate these complexities. But regardless of the role we play – provider, patient, government regulator or developer of these technologies – we all have a responsibility to think long and hard about the many questions DTC genetic testing brings to the forefront.

Elena Flowers is an assistant professor in the UCSF School of Nursing. Her program of research is focused on identification of novel molecular markers associated with cardiovascular disease (CVD) risk factors and responses to risk reduction interventions among racial minority groups. She published numerous papers describing CVD risk in South Asians, which led to current studies evaluating microRNAs as prodromal predictors of progression to CVD and type 2 diabetes. Presently, she is investigating microRNAs as predictors of responses to behavioral interventions to reduce risk (e.g., weight loss, physical activity, yoga). Her research has expanded to include high-risk Filipino and Latino populations. She is director of the School’s genomics laboratory and Genomics Minor. She is also active in the American Heart Association, the American Diabetes Association, the Preventive Cardiovascular Nurses Association and the International Society of Nurses in Genetics.