The loosening of restrictions on genetic testing would mean that all health-care providers could help move this needle to where it should be, according to Kevin S. Hughes, MD, a surgeon at Massachusetts General Hospital, Professor of Surgery at Harvard Medical School, and Medical Director of the Bermuda Cancer Genetics and Risk Assessment Clinic.
Kevin S. Hughes, MD
Speaking on the topic of genetic testing at the 2020 Miami Breast Cancer Conference,1 Dr. Hughes implored listeners to “get out there and test early and test often.” In the emerging paradigm for risk evaluation, any member of the treatment team can identify individuals for testing and send them for it, with a specialist coming on board to perform risk management, he said. “You should be identifying, testing, and organizing the management,” Dr. Hughes told oncology providers.
Barriers Are Coming Down
Some 25 years ago, genetic testing had many impediments to its routine use, most strikingly cost (in the thousands of dollars) as well as many “unknowns” that concerned physicians. With the introduction of whole-genome sequencing, however, the use of genetic testing has increased exponentially, whereas the cost has come down to as low as under $300 in 2020, said Dr. Hughes. Regardless, he continued, genetic testing is still not widely embraced. “We’ve got to get over this cautious approach to genetics that is really holding us back,” he said. Although mandatory genetic counseling is partly to blame, “it’s not the most important thing,” he added.
Dr. Hughes named three basic points that physicians should consider when approaching genetic testing:
- How can physicians identify patients who should undergo genetic testing?
- How should these patients be tested?
- How should physicians manage their risk?
Proper attention to these points will help the field “move beyond the ‘genetic testing is dangerous’ era into the ‘genetic testing is good medical care’ era,” according to Dr. Hughes. “The new paradigm is for genetic testing to be undertaken by physicians (or directly by consumers) with minimal or no pretest counseling. The small percentage of patients who test positive need the care of those well versed in genetics, but most patients can undergo testing with minimal pretest counseling.”
Impact of Payer Constraints on Testing
A study led by a Vanderbilt surgical oncologist, Pat Whitworth, MD, evaluated the effect of the uptake of genetic testing after a large national health-care insurance payer placed restrictions—namely, requiring that individuals first meet with a genetic counselor for testing to be reimbursed.2 The study compared denial rates from this payer with those of another insurance carrier who did not change criteria.
The company without this restriction had no change in denial rates for genetic testing over the study period, whereas the large payer’s denial rates increased from 9% to 37.7% after implementing the restriction policy. Moreover, the policy did not increase the mutation-positive rate, but it did increase cancellations of tests—from 9.5% prior to the policy change to 37.7% afterward, the study showed.
“We’ve got to get over this cautious approach to genetics that is really holding us back.”— Kevin S. Hughes, MD
Tweet this quote
“They were denying patients who are at the same risk of mutation as the ones they were accepting, denying them only because a genetic counselor had not seen them,” Dr. Hughes explained. The cancellations occurred more often in the black and Latino populations—groups for whom the elimination of disparities in care is an important goal. This policy created new disparities, he added.
The Problem of Too-Little Testing
The impediments to testing indicate that far too many at-risk individuals are not being identified, Dr. Hughes continued. As Mary-Claire King, MD, who is credited with identifying the BRCA1 gene (one of the genes that is responsible for hereditary breast cancer), said, “To identify a woman as a carrier, only after she developed cancer, is a failure of cancer prevention,” he quoted.
More than 620,000 diagnoses of colorectal, pancreatic, breast, uterine, and ovarian cancers are expected in 2020, estimated Dr. Hughes. If 10% of these cancers are hereditary, then 62,000 cancers could be prevented or found earlier in the United States every year through preventive methods, including genetic
testing, he added.
“This is really the problem we need to solve,” stated Dr. Hughes. “We’re really failing miserably at finding these patients and taking care of them before they develop cancer.”
‘Outdated’ Traditional Model
Under the traditional approach to genetic testing, any health-care professional could identify a patient who should undergo testing; however, only a specialist—most likely a genetic counselor—could test for and manage a patient’s hereditary risk for cancer. “This model is outdated, and why is it a problem? The testing backlog,” Dr. Hughes. “A total of 13 million women in this country need genetic testing, and only about 2 million tests have been done in the past 24 years. And almost all of them need to be redone with modern panel tests.”
As the need for testing is recognized, the high demand for genetic counselors is greatly outstripping supply. At Massachusetts General Hospital, for example, the next available nonurgent appointment with a genetic counselor is months in the future. “We don’t have enough genetic counselors under this model, and we’re missing opportunities,” Dr. Hughes said.
Proposed New Testing Paradigm
The proposed new paradigm would shift the onus from the genetic counselor to include more health-care professionals. “Anybody should be able to identify and test patients, and then management might move on to a specialist,” explained Dr. Hughes.
“The new paradigm is for genetic testing to be undertaken by physicians (or directly by consumers) with minimal or no pretest counseling."— Kevin S. Hughes, MD
Tweet this quote
Dr. Hughes also noted the movement for patient-controlled testing. A randomized four-arm study called MAGENTA (Making Genetic Testing Accessible) will test the effects of online genetic education alone or in combination with telephone genetic counseling. It is billed as “genetic testing at your doorstep” and “a way to empower women to know whether their family history and genetic mutations put them at increased risk.”
Another innovative program comes from Sloan Kettering in New York, which is conducting a study to assess cancer risk in those of Ashkenazi Jewish heritage. Patients sign up online and can choose to receive their results from a primary care provider.
However they are identified, patients found to have a mutation should be managed according to the spectrum of hereditary cancers for a specific gene and the penetrance for each. This has been simplified in the clinic through a tool developed by Dr. Hughes and colleagues called ASK2ME, which stands for the “All the Syndromes Known to Man Evaluator.”
The site allows physicians to input a person’s genetic mutation, gender, age, prior cancers, and previous surgeries. For each gene, the site identifies the patient’s risk of developing cancer as compared with the general population. Dr. Hughes is hopeful that even better computer-based tools will someday enhance physicians’ management of patients.
“Absolutely get out there and find patients who need testing,” Dr. Hughes urged practitioners. “Learn how to test. Just think about what management would be by the gene, the structure, and the penetrance.”
DISCLOSURE: Dr. Hughes owns stock or other ownership interests in CRA Health (formerly known as Hughes RiskApps); and has received honoraria from 23andMe, Myriad, Focal Therapeutics, and Hologic.
REFERENCES
1. Hughes K: What’s new in cancer genetic testing? What problem are we trying to solve? 2020 Miami Breast Cancer Conference. Invited lecture. Presented March 6, 2020.
2. Whitworth P, Beitsch P, Arnell C, et al: Impact of payer constraints on access to genetic testing. J Oncol Pract 13:e47-e56, 2017.
