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Many Patients Referred for Hereditary Cancer Testing Skip Insurance-Mandated Pretest Counseling


NEW YORK (GenomeWeb) – Up to half of patients are opting to pay out of pocket for hereditary cancer risk testing — or canceling such tests altogether — rather than completing the pretest genetic counseling required by their insurance providers for test coverage, according to new research by investigators from DNA testing and genetic counseling service Counsyl.

The Counsyl team followed more than 300 patients referred for hereditary cancer predisposition genetic testing, including several hundred individuals with family histories consistent with a BRCA1 or BRCA2 mutation. All of the individuals were required to complete genetic counseling before their insurance provider would sign off on the germline testing for cancer-related mutations.

Initial results from the study were presented on a poster at the National Society of Genetic Counselors meeting in Seattle earlier this month.

Although the telephone-based third-party genetic counseling services offered to patients were designed to be as convenient as possible, results from the analysis suggest that a significant proportion of individuals either declined pretest counseling or were not successfully contacted for counseling. Some 40 percent of individuals instead paid for their genetic tests out of pocket, while others did not go through with the hereditary cancer testing at all.

"There are some concerning numbers in here from a medical care standpoint," first author Gabriel Lazarin, vice president of medical science liaison at Counsyl, told GenomeWeb. "We need to look into what changes we might want to make or what processes we can improve to maximize the number of people who want testing that actually end up getting the test."

The goal of pretest genetic counseling is to make sure patients receive appropriate information about the genetic test they have been offered, Lazarin said, but results of the study suggest that "in a lot of cases, that isn't happening."

Although some health insurance providers have started mandating genetic counseling as part of the informed consent process for individuals with potential hereditary cancer predisposition who are referred for genetic testing, the Counsyl researchers noted, the consequences of such counseling have not been systematically studied.

"This is a growing trend," Lazarin said. "In addition to more plans implementing the requirement, we are also seeing these plans expand the type of testing for which the requirement exists."

To investigate this in more detail, he and his colleagues reviewed insurance coverage for individuals who had been referred for germline cancer testing by their physicians.

In particular, they narrowed in on those covered by Cigna or UnitedHealthcare — two large national health insurance companies that require pretest genetic counseling for individuals scheduled to receive tests for risk mutations in BRCA1, BRCA2, and other genes implicated in specific conditions, such as Lynch syndrome.

If patients insured by payers with such requirements forego pretest genetic counseling, they are typically required to pay out of pocket for the genetic test rather than having their insurance companies foot the bill.

"They need to receive a form that has been reviewed and signed off on by a genetic counselor that they recognize in [the insurance provider] system. If they do not receive that authorization form, they will not issue coverage for the patient's BRCA testing, regardless of what the stated risk level is," Lazarin said. "It's absolutely a prerequisite."

To satisfy insurance company requirements, individuals mandated to receive pretest genetic counseling are referred to a third-party genetic counseling service for telephone-based counseling, he explained. "As a matter of practice, Counsyl doesn't perform any pretest counseling, but in this case specifically, it's required that the pretest counseling be done by somebody who is not employed by the laboratory."

Because pretest genetic counseling policies are relatively well established for individuals being tested for breast and ovarian cancer-related mutations in the BRCA1 and BRCA2 genes, the team further focused its analysis on pretest genetic counseling and genetic testing uptake in these patients.

Of the 327 individuals included in the study, the researchers noted, 262 were suspected of carrying cancer-related risk variants in the BRCA1 or BRCA2 genes based on their family and personal histories. The remaining 65 individuals were believed to be at no higher risk of germline BRCA1/2 mutations.

More than half of individuals across the entire cohort did not receive the pretest genetic counseling, either because they cancelled the counseling or because they could not be reached when genetic counselors attempted to contact them prior to testing. Many, but not all, opted to shell out $349 themselves for genetic testing using Counsyl's hereditary cancer panel.

"A lot of patients are still not getting their counseling: that's problem number one, because the stated goal of the [pretest counseling program] is that patients receive detailed and complete information about the testing," Lazarin said.

In the group of individuals believed to be at greatest risk of germline BRCA1/2 mutations, 131 individuals received genetic counseling and 131 did not. Most of those who did get pretest genetic counseling filed insurance claims for their subsequent genetic tests, the team reported.

On the other hand, 104 of the 131 individuals who declined genetic counseling — or did not respond to attempted contact by pretest genetic counselors — ended up paying for the test out of pocket.

In the group predicted to be at normal risk of germline BRCA1/2 mutations, 35 of 43 individuals declined testing and fell into the self-pay genetic testing pool.

The researchers reported that 20 individuals cancelled their hereditary cancer predisposition testing outright, rather than proceeding with pretest genetic counseling and genetic testing.

"There are a lot of people who reported … a history consistent with a BRCA mutation. And without even having that expert consultation, they ended up canceling their test," Lazarin said. "One out of 12 physician-ordered tests were cancelled outright. That, to me, seems to be problematic."

Consequently, just over half of those who did carry a risk-increasing germline mutation in a known cancer predisposition gene and about one-third of those with a variant of unknown significance in one or more of the genes had received pretest genetic counseling.

Based on their results, the researchers are interested in looking at whether there are additional or complementary strategies for providing patients with information and education on the hereditary cancer genetic tests they are considering. The genetic counseling being offered to individuals prior to testing is already streamlined compared with in-office counseling sessions, Lazarin said, and was intended to minimize barriers to genetic testing.

"The solution is not to introduce an easier or better pretest counseling process," he argued. "We think that this is as seamless as it can be. The solution seems to be something else that provides patients with their pretest education so that they can make the decision and follow through with it without having to jump through hoops to do so."

The team is interested in delving into the topic further and is beginning to expand its dataset. It has also shared its findings with insurance providers whose patients were followed for the analysis.

"We think that there are a lot of people who should get testing who are not being tested, both within and outside of current guidelines, and it's possible that this prerequisite is one of the barriers," Lazarin said, arguing that ongoing dialogue between genetic testing firms and insurance companies may help in providing genetic tests that are needed while ensuring appropriate test utilization under health insurance plans.