Direct-to-consumer genomics call for provider education

Dec. 01, 2013 @ 11:30 PM

The Direct-to-Consumer (DTC) personal genomics company, 23andMe, is facing difficult questions from the U.S. Food and Drug Administration (FDA) following a warning letter questioning their regulatory compliance.

The FDA appears concerned that consumers may act upon results from 23andMe inappropriately, perhaps undergoing double mastectomies based on breast cancer gene variants or altering their medication. Perhaps the FDA is nervous that without enough trained professionals to address patients’ questions about DTC tests, there is a greater risk that the genetic information will be misused.

We want to turn that notion on its head: Perhaps healthcare providers can use DTC personal genomic tests as an educational tool to enhance their own understanding of genomic information so that they can adequately respond to their patients’ inquiries.

As part of a new course in genomics and personalized medicine offered at Duke University School of Nursing, we had access to the 23andMe Personal Genome Service to supplement our classroom exercises and coursework. One of us chose to take the test; the other opted to use mock profiles available through the company’s website. Duke is one of only a few schools in the U.S. using a DTC personal genome test as an experiential learning tool to integrate genomics into the classroom. Using 23andMe’s service, we critically analyzed cited scientific data and explored how the company reports health-related results from both the patient and provider perspectives.

Doctors, nurses and other providers consistently demonstrate an overall deficiency in knowledge of genetics, despite recommendations that genetics and genomics be core content in provider education. As our course instructors wrote in North Carolina Medical Journal last month, genetic and genomic data are now aspects of every healthcare field, but most healthcare providers are trained inadequately to respond to and interpret a patient’s genomic testing results. Yet the likelihood that providers will encounter genomics in the clinical setting is approaching certainty,  whether it is a test ordered by the provider or a DTC test that a patient presents for consultation.

Having critically appraised 23andMe in our coursework, we are informed on both the utility and the limits of genomic tests. If other healthcare providers are trained to critically evaluate and interpret genomics -- as we were instructed -- they too will be prepared to communicate genomic results with patients effectively, reducing risk of misuse of genomic information. As a personal example, one of us received results indicating a slightly elevated risk of cancer. This concerning result prompted a thorough review of how the risk was calculated and relevant family history and lifestyle factors. The process of receiving and evaluating these results is directly transferable to our “real world” encounters with patients.

As for whether 23andMe genomic results could lead to delayed treatment or misdirected medical decisions, our experience reminded us that genomic test results are not acted upon in a vacuum. They are not the only information patients or clinicians will use to make healthcare decisions. As providers, we are taught to assess the whole patient, not just discrete data points, before forming a care plan. We have the professional responsibility to know and operate within the limits of any technology at our disposal -- in the case of personal genomics, the limitations of genomic information. Providers need to be prepared to interpret, explain and incorporate genomic test results effectively, whether the healthcare team or the patient initiates testing. After all, it is now part of their scopes of practice, as supported by medical and nursing professional organizations.

In our estimation, 23andMe could stand to improve how they convey genetic risk of developing a disease to their consumers. Certainly, we expect the FDA to review diagnostic claims for medically indicated tests, which may include some aspects of 23andMe’s service. And perhaps 23andMe has more work to do in demonstrating that some aspects of their service are valid.

But we argue that -- independent of the validity analysis -- the DTC personal genomic test is valuable as an educational tool for providers. The value of the 23andMe platform to our personal and professional growth is undeniable: We feel equipped to handle genomic information from our future patients having evaluated our own (or simulated) genome results.

We are not afraid of the changes genetics and genomics may bring to healthcare. Instead, we are ready to tackle them. We know genomics is complicated and recognize that ongoing evaluation of consumer-marketed tests is essential. But we also recognize that if providers were better trained in genomics, the FDA may be less concerned about providers misusing DTC-originated results brought in by patients to inform medical decisions. A DTC personal genome test as an introspective educational tool can bring other providers up to speed on rapidly expanding genomic technologies that they are sure to encounter in a clinical setting.

Sara Jordan is a Duke University Accelerated Bachelor’s of Science in Nursing student who plans on pursuing an advanced practitioner degree. She has a degree in history from Davidson College.

Sarah Timberlake has a Bachelor’s of Science in Nursing from Duke University and a degree in microbiology from North Carolina State University. She is a clinical research coordinator.

The views presented are not necessarily representative of Duke University or Duke University Medical Center.