Many breast cancer survivors eligible for genetic counseling and testing are not receiving it according to a new study from the University of Michigan (U-M) Health Rogel Cancer Center. This is increasingly important as cancer treatment and follow up are getting more complex as more new drugs are being introduced. The good news, however, is that among those who do get testing, nearly two-thirds who have a genetic variant are reaching out to family members to talk about their results.
“Our findings support a rapidly growing movement to simplify clinical guidelines to increase access to genetic testing and clinical impact of the results after diagnosis and into survivorship,” said lead study author Steven J. Katz, MD, professor of internal medicine and of health management and policy at the University of Michigan.
He told Inside Precision Medicine, “Good news about germline genetic testing is that access is really improving because insurance is increasingly covering it.”
Researchers surveyed 1,412 women seven months and again six years after they were diagnosed with early stage breast cancer. The patients were identified through Georgia and Los Angeles County Surveillance Epidemiology and End Results, or SEER, registries. A total of 47.4% had indications for genetic testing at any time: 28.0% at baseline and an additional 19.4% at the time of the follow up survey. Participants were asked whether they received genetic counseling or testing and if so, whether they talked with relatives about results.
Clinical guidelines are changing to include more people eligible for genetic testing. The tests themselves are including more genes that could help guide not only treatment but follow-up care and screening. Results can also impact family members who may also be at increased risk of cancer.
“Patients need high-quality multi-disciplinary-based decisions and treatment, they may need continuity going forward for many years. “Treatment continues into the survivorship for many (endocrine therapies), surveillance for progression of disease or new cancers, and needs for engagement of the family,” said Katz.
He added that, “Even some years after initial therapies, germline genetic testing could inform patients decisions about strategies for early detection or prevention of new primary cancers such as ovarian cancer or a new breast primary.”
These researchers also found that few people were interested in direct-to-consumer genetic tests, which are not as sophisticated as clinical-based genetic testing and counseling. “Most direct to consumer tests do not yield results that are clinically useful to patients and families,” Katz said. “And it’s important that individuals know where to go to get this kind of testing and ensure high quality follow-up of the results and integration into their practice context.”
“Genetic risk evaluation and testing can fall through the cracks during survivorship as patients’ needs for ongoing treatments, managing the side-effects of treatments, and monitoring for recurrence or progression grow,” said senior study author Lauren Wallner, PhD, associate professor of internal medicine and epidemiology at U-M. Wallner is also the co-leader of Rogel’s cancer control and population sciences program.
“Our findings reinforce the need for novel approaches to genetic risk evaluation and testing in practice to target prevention and early detection strategies for their patients and their families,” said senior study author Allison Kurian, MD, professor of medicine and of epidemiology and population health at Stanford Medicine.
