Direct-to-consumer genetic testing (DTCGT) has entered the prime-time stage. It’s difficult to watch TV without seeing ads touting the simplicity of DTCGT and what it can tell you, and it even made Oprah’s 2017 Favorite Things List.
Timing is often everything. In February 2018, I was approached by a hospital to do an educational grand round for the entire medical staff, and DTCGT was a suggested topic. They needed the program for March 6, 2018. Although I’ve answered plenty of questions on DTCGT, penned a Clinical Journal of Oncology Nursing column about it, and was interviewed about it for a popular consumer magazine, I didn’t have a handy deck of slides ready to go. But I accepted the challenge and found I easily filled an hour with content. I even stayed 35 minutes after the presentation was over to answer various questions. To me, it’s clear—the interest is there.
After I finished my presentation, I went back to work satisfied that I’d provided some helpful knowledge to healthcare providers. That same day, I read the announcement that 23andMe, a genetic testing company, added reports for three founder BRCA mutations back into their at-home test. This addition would allow test-takers to more easily see whether they had BRCA mutations associated with breast cancer. Reports for the mutations, available in an earlier version of the test, were pulled by the U.S. Food and Drug Administration (FDA) in 2013.
However, I don’t think many genetics professionals were surprised that the company was permitted to re-establish those mutations reports. In April 2017, the FDA agreed to allow 23andMe to inform consumers of their risks of developing 10 specified medical conditions, including Parkinson disease and late-onset Alzheimer disease. At that time, the FDA planned to exempt other 23andMe genetic health risk tests from premarket review. The agency also indicated that companies offering similar tests may be able to forgo intensive regulatory review after submitting the first premarket plan. This was the wake-up call for many at-home genetic testing companies.
After reading the announcement, I thought about what I shared with providers. I’d explained how DTCGT works and that patients can undergo various levels of genetic testing without ever consulting a healthcare provider. I explained how it only looks for a few single nucleotide polymorphisms (SNPs), which isn’t a comprehensive sequencing of an entire gene. I discussed the benefits of at-home tests, like patients having more awareness of the importance of genetic make-up and how some could be more open to developing healthy lifestyles. I explained the limitations: DTCGTs are not comprehensive tests, and there could be significant psychological ramifications for patients who misunderstand the scope of their results.
The new 23andMe test report highlights only three mutations on the BRCA1/2 genes for which more than 1,000 mutations are known. It does not report for the other genes associated with increased risk for developing breast cancer, which means it isn’t even close to comprehensive genetic testing. Unfortunately, consumers may not understand this.
Moreover, the psychological ramifications for patients may be difficult to quantify. Those who test positive may not really be ready for those results or fully understand the ramifications of the test, leading to care decisions that might not be best for them—what some healthcare communities refer to as the Angelina Effect.
Managing patients who test positive for a susceptibility gene is challenging and often requires difficult choices. Making those choices requires intensive education and support from trained healthcare professionals, and that may not be available to those who learn of the risk through DTCGT. Will individuals be too terrified to explore options for risk reduction? Will those who test negative assume their risk for developing breast or other cancers is not elevated? DTCGT is far from comprehensive sequencing, and this is a very real concern.
Tapping into the expertise of genetics professionals is crucial. Genetics professionals can provide patients with a balanced discussion of the risks and benefits of testing. In fact, patients may not realize that external risks are associated with at-home testing, like discrimination against those with a predisposition to developing a disease. Although the Genetic Information Nondiscrimination Act provides protection against health insurance and job discrimination for those with predisposition, it does not provide protection for life insurance, disability, or long-term insurance. Do individuals undergoing DTCGT know this?
More discussion about this is sure to unfold in the coming weeks and months. Patients and their families will be asking oncology nurses questions about DTCGT, and oncology nurses need to understand why patients are interested in them. We have an opportunity to educate patients about what DTCGT can do—and, as equally important, what it cannot do.
If your patients are truly worried about hereditary risk, or their family history suggests hereditary risk, they should be referred to credentialed genetic professionals for comprehensive evaluation and supportive counseling. When patients and families know that oncology professionals are proactively addressing their concerns about hereditary risk and comprehensive genetic care, they may be less likely to turn to DTCGT and misunderstand their findings. As with most things in oncology nursing, timing is everything. Join the genetics discussion with your oncology nursing colleagues at the ONS Communities.