Expert Highlights Need for New Paradigm in Genetic Testing


At the 37th Annual Miami Breast Cancer Conference, Dr. Kevin S. Hughes discussed genetic testing and what health care providers should be doing to identify more individuals at risk for cancer.

A newly suggested paradigm puts more emphasis all health care providers and patients being able to identify who should undergo genetic testing.

At the 37th Annual Miami Breast Cancer Conference, Dr. Kevin S. Hughes, co-director of the Avon Comprehensive Breast Evaluation Center at Massachusetts General Hospital, discussed genetic testing and what health care providers should be doing to identify more individuals at risk for cancer.

“Anybody should be able to ID and test patients and then the management might move on to a specialist,” said Hughes, who is also professor of surgery at Harvard Medical School and medical director of the Bermuda Cancer Genetics and Risk Assessment Clinic. “(Physicians) should be identifying, testing and organizing the management.”

Genetic testing, during its inception in 1996, was associated with barriers, like cost. Moreover, many physicians were cautious to use it due to the many unknowns associated with genetic testing at the time. However, following the introduction of whole genome sequencing, the use of genetic testing has increased exponentially, while also becoming much more affordable.

Despite all of this, experts still urge caution. “We've got to get over this cautious approach to genetics that's really holding us back,” Hughes said, adding that the real misconception of genetic testing, causing this caution, is that it is all about counseling. “That's not the most important thing,” he added.

A 2016 study, conducted by Dr. Pat Whitworth, an associate clinical professor of surgery at Vanderbilt University Medical Center, and colleagues, evaluated the implementation of restrictions placed on genetic testing by an insurance company, requiring individuals to visit with a genetic counselor first in order for their genetic test to be paid for by the insurance company. The researchers compared the restriction policy to that of another insurance company who did not have it in place, and also how the policy affected denial rates for genetic testing before and after it was implemented.

The insurance company with no policy in place had no change in the denial rate for genetic testing. Meanwhile, in the same time period, the insurance company with the restriction policy saw their denial rates increase from 10% to 40% after implementing the restriction policy. Moreover, the positive rate for genetic mutations went from 3.8% to 3.7%. The company also saw a significant increase in cancellations, rising from 9.5% prior to the policy change to 37.7% afterward.

“They were denying patients who are the same as the ones that they were accepting, denying them only because a genetic counselor had not seen them,” Hughes explained, adding that more of the cancellations occurred in African American and Latino population. “(This is) a group that we’re trying to get rid of disparities, not create new disparities.”

Hughes pointed out that the problem lies in the number of people missed, who in fact need genetic testing. “(According) to Mary-Claire King (the American Cancer Society Professor of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington), to identify a woman as a carrier, only after she developed cancer, is a failure of cancer prevention,” Hughes said. “The problem is that those who needed testing were not tested, and they developed a deadly cancer that could have been prevented or found earlier had they been tested and identified. This is really the problem we really need to solve.”

In the old approach to genetic testing, Hughes explained, anybody could identify a patient who should undergo genetic testing; however, only a specialist, like a genetic counselor, could test for and manage hereditary risk for cancer.

With such a need, genetic counselors are becoming less and less available. For example, at Massachusetts General Hospital, the next available appointment to visit with a genetic counselor is September 2020. “We don't have enough genetic counselors and we're missing opportunities.”

The new suggested paradigm shifts all of the focus from the genetic counselor to include more healthcare professionals.

To help with this, Hughes and colleagues have utilized a tool, called ask2me, “the all syndromes known to man evaluator.” The site allows individuals to input the genetic mutation, gender, age, prior cancers and prior surgeries. For each gene, the site identifies the patient’s risk of cancer going forward, compared to the general population.

“We need better tools from computers that can help us manage patients and take care of them,” Hughes concluded.

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