We live in a time when a rare immune disorder called “bubble boy disease” can be cured using a gene therapy made from the virus that causes AIDS and when a cure for AIDS itself is inching closer to reality. Yet limited access to genetics expertise is holding us back from applying genetics advances on a broad level—and it’s hurting vulnerable populations.

The average person doesn’t have access to genetics expertise to make the right decisions about testing or treatment. Then again, neither do many physicians: One study of nearly 500 primary care physicians found that while many of these physicians had some formal genetics education, six out of seven did not feel comfortable interpreting genetic test results or advising patients who are at high risk for genetic conditions.

There are significant downsides to this gap in access to genetics expertise.

First, there’s the risk of inappropriate testing, incorrect diagnosis, and ill-suited treatment. Besides the medical impact, there is also the emotional and financial cost of unnecessary and misinterpreted testing. Research by Stanford Medicine shows that half of the women who underwent bilateral mastectomy based on genetic testing did not have mutations associated with cancer.

When I read that statistic, I couldn’t help but ask myself, “How did this happen?” Simply put, physicians without genetics training frequently misinterpreted test results.

Then, there is the growing risk of people taking matters into their own hands when they don’t trust the guidance they receive regarding genetic testing and test results. And, with the growing interest in knowing one’s genetic makeup, I believe this pressure will likely intensify in the coming years.

A related factor many don’t realize is that tests and therapies are being approved by the FDA without a great deal of evidence around their clinical utility—putting the onus on providers and health plans to understand the benefits and limitations of genetic tests and therapies for patients.

A large group of people in the shape of DNA

Where does that leave consumers? We’re witnessing increased incidences of financial toxicity: Consumers are being put in situations leading to extreme financial debt in order to pay for genetic therapies not covered by insurance yet approved by the FDA and recommended by their providers. We see this most often with cancer patients but have also encountered patients with rare genetic diseases having to mortgage their homes to afford gene-based therapy.

This further highlights the growing gap we see that is leaving some consumers unable to afford the pursuit of genetic testing and genetic therapies without support from their health plans. The lack of genetics expertise in the decision-making process—beginning at the top with healthcare organization and health plan staffing—can be the deciding factor between who benefits from genetic medicine and who doesn’t, separating the “haves” from the “have-nots.”

Here are three actions healthcare organizations and health plans should consider to address the gaps in access to genetics expertise for patients and physicians.

Require genetic counseling prior to genetic testing—and leverage telehealth to expand reach.

Some health plans are already beginning to implement policies requiring pre-test genetic counseling, but we’d recommend more follow suit. It’s a move that benefits all.

Pre-test genetic counseling helps ensure consumers are well informed in making decisions about genetic testing and downstream care. It arms consumers with personalized information about their risk for genetic disease and the best options for managing these risks or diagnoses. Several studies have shown that when genetic counseling is provided prior to testing, one out of five individuals decides not to pursue genetic testing for legitimate reasons.

Though the solution sounds simple, the national shortage of genetic counselors still leaves many vulnerable. We encourage seeking ways to expand the reach of genetics expertise—such as through telehealth consultations—as this could offer a resolution in 2020 and beyond.

Provide holistic genetic testing support for physicians.

When testing requests are made, responding with a “yes” or “no” answer is simply not enough. The knowledge these tests can give to physicians and patients can dramatically impact individuals and families. Instead, health plans should support direct communication between the physician ordering the test and genetics experts facilitating the process—by phone or via digital platforms—to explore, in real-time:

  • Whether testing is needed;
  • Whether the requested test is medically appropriate;
  • The best options for testing, based on the individual’s medical history, condition, and needs.

Post-testing support for physicians is also critical. 60 percent of oncologists say they struggle to interpret the results of testing, but more than one-third believe precision medicine will have a significant impact on options for care within the next two to three years. Direct access to genetics experts during this stage can better enable physicians to interpret the results and offer patients the clearest path forward.

Develop a best-practice approach to genetic testing policy development.

The current boom of genetics innovation—with approximately 10 new genetic tests introduced each day and an explosion of new gene therapies entering the market—is currently outmatching health plans’ ability to manage utilization. And, though many leading health plans are already beginning to partner with genetics experts to determine ways to monitor and proactively modify their coverage capabilities, bridging the gap between what is known in the area of genetic discovery and what can be applied is key to greater consistency in coverage.

For example, at one national health plan, establishing a current, comprehensive testing policy for the BRCA genes associated with one’s risk for developing breast cancer, substantially reduced the incidence of clinically inappropriate BRCA testing. It’s a move that helped members (patients) avoid wasted time and potentially harmful treatments while saving the health plan 20-30 percent in BRCA testing spend— offering the ability to invest in other patient care.

It seems that everyone is interested in learning more about their genetic makeup, but too few understand how it truly impacts their health—and many providers are unprepared to help. Expanding access to genetics expertise at the point of care is a key step toward supporting the right care decisions, eliminating the emotional and financial costs of uninformed decision-making, and ensuring equity in access to genetic medicine for patients. Forward-thinking healthcare organizations and health plans can make such access a reality for their patients and providers.

If you’d like to learn more about InformedDNA and the expert genetics services we offer for health planshealth systems and hospitals, or pharmaceutical companies, please get in touch – just fill out the short form below, or give us a call: 844-846-3763.


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