Angela R. Bradbury, MD, on Genetic Testing Approach in Patients With Metastatic Cancers

We now have FDA-approved medications for patients with metastatic cancer and BRCA or other germline mutations. And what this means is that we really need to have genetic testing be part of their care and to inform treatment decisions. But this also means that we do not have the capability for every patient to meet with a genetic counselor, which is the traditional model for genetic testing, to be able to talk about the pros and cons of testing implications for themselves and for relatives. So there have been a variety of different models of care that have been emerging and starting to be used in clinic to ensure patients get testing. Many of these have excluded genetic counselors and with pretty limited data. Based on the prior NIH-funded study, we developed a digital intervention that covers the same content that a genetic counselor covers when meeting with a patient for either pretest counseling or for disclosure of genetic test results. And I want to emphasize that this is a patient-informed digital intervention that had a lot of input from patients about what information they needed, what information was too much. And it's also tiered. So it has basic information but allows patients to go more in-depth if they want and includes things like videos to help explain certain concepts. So these digital interventions were evaluated in the eREACH study. This was a four-arm non-inferiority study. The traditional standard of care arm was two visits with a genetic counselor, and each of the other arms replaced one of the visits or both with the digital intervention. Any patient in the study could ask to speak with a counselor if they’d been assigned to the digital intervention to maintain that provider-patient relationship if needed. The patients in the study all were patients who had metastatic breast, ovary, pancreatic, or prostate cancer, and therefore were undergoing genetic testing to help inform their therapy. I'll also point out that this study was conducted through the Penn Telegenetics program. So we did enroll patients at the University of Pennsylvania—about 70% of them—but we also enrolled patients at community practices and through social media, last with cancer advocacy groups and through Facebook. We enrolled about 226 patients. It ended up being 55 to 60 per arm. I want to highlight that 30% of them live in rural ZIP codes and half of them have less than a four-year college education. So we are really seeking to get a representative population. So what we found in the E-REACH study was that the one-visit models—so either meeting with a counselor first, receiving results second, or the alternative—met non-inferiority for all of the patient-reported outcomes compared to two visits with a counselor, while it was inconclusive for knowledge and uptake of testing. The fully digital arm had very, very small differences in increasing knowledge and slightly lower uptake of testing, but the differences were so small that they may not be clinically significant. So what does this mean? I think it gives us another model for increasing access to genetic services and increasing throughput. In our particular model, this would be using this particular digital intervention, but also includes the genetic counselor in the background available for patients and providers if they need one. And while I would say that the one-visit model is certainly acceptable and no different than standard of care based on this study, I think for some patients the fully digital model may actually be fine as well because the differences were so small and access to this testing is so important.