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Healthcare Science

Counselor Shortage Threatens Genome-based Diagnostics

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Twin themes at a recent meeting of genetics experts illustrate a growing challenge facing patients and healthcare professionals alike: demand for genetic testing is skyrocketing while a shortage of qualified genetic counselors seems likely to worsen. More people today are seeking and receiving medically relevant genetic tests, but fewer of them are likely to get the guidance they need to understand their results.

Clinical genetics leaders gathered this month at the annual meeting of the American College of Medical Genetics and Genomics. They aimed there to quantify the shortage even as they encouraged their community to consider new ways to address the problem. Kaylene Ready from Counsyl, a company that provides genetic screening for women, said at the conference that there are fewer than 4,000 genetic counselors in the United States. Current enrollment in training programs suggests there won’t be enough such specialists until 2024, she noted, at which time there will only be enough genetic counselors to meet today’s demand. That number will hardly make a dent given that 10 new genetic tests reach the market every day.

Genetic counselors and other clinical genetics experts are essential to the genetic testing process. Most doctors practicing today received precious little education about genetics during med school, so specialists are needed to help patients and physicians know which tests are available, understand when to perform a test, and digest the results. Insufficient access to such experts could hinder the growth of genetic testing and restrict its benefits.

The community is pondering new approaches, including telemedicine, educational videos, direct-to-consumer models, AI-powered chatbots, and genetic counselor “extenders” — nurses or other healthcare professionals who could handle certain straightforward genetic counseling tasks. Among educators there’s a push to allow people who trained in genetics outside the U.S. to sit for qualifying exams here.

One of the reasons experts are so sorely needed is the dynamic nature of genetic tests right now. During this period, when genomic science is advancing so rapidly, the results from any genetic test should be thought of as a snapshot in time rather than as a definitive answer. At the ACMG meeting, several speakers presented data showing that for wide-ranging genetic tests, reinterpreting results just a year or two later often led to the detection of newly discovered, medically relevant DNA variants. In other words, patients who were originally told that their results were negative suddenly emerged with diagnostic answers for their cases — and possible treatments to take or clinical trials to join.

Because the results are so dynamic, some experts are calling for subscription-based methods that would allow for ongoing, automated reinterpretation of genetic tests. This would have to be paired with strong genetic counseling so patients can make sense of new or changing results.

That’s the paradox facing the future of genomics in medicine: rapid adoption alongside a shortage of experts could give too many patients negative experiences with genetic tests and threaten the very future of the field.

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