NEW YORK (GenomeWeb) – Clinical exome sequencing has become a common testing option for patients with undiagnosed genetic diseases and frequently delivers a molecular diagnosis, but the tests are often not covered by insurance, given their high cost, use of novel technology, and the fact that patient outcomes and cost-effectiveness are still under study.
But there are signs that insurance carriers are increasingly willing to cover diagnostic exome tests. Earlier this year, Geisinger Health Plan, following an assessment of evidence presented to it by researchers and clinicians from the Geisinger Health System, decided to develop a coverage policy for diagnostic exome sequencing, which is close to obtaining final approval.
At the American College of Medical Genetics and Genomics annual meeting in Tampa last month, Marc Williams, director of Geisinger's Genomic Medicine Institute, talked about how he and his colleagues made the case for coverage of exome testing by the health plan.
To some extent, Geisinger is a special case because the Geisinger Health Plan, which has about 540,000 members, mostly in Pennsylvania, is an integral part of the Geisinger Health System, a comprehensive healthcare network of physicians, hospitals, and research centers that serves more than 3 million patients in Pennsylvania and southern New Jersey. As such, the health plan has an ongoing relationship with Geisinger physicians and researchers, though it decides independently what it does and does not cover.
"We try and work together to make sure that any testing that is done in the genetic realm is medically necessary, not experimental, [and fulfills] all the criteria that the health plan would expect for coverage," Williams told GenomeWeb this week.
Nevertheless, the fact that the Geisinger Health Plan is instituting a coverage policy for exome sequencing may persuade other insurance carriers to follow suit, Williams said, and he and his team have been reaching out to major payors in Pennsylvania to educate them about the new tests and their utility.
Williams said the process that led to the coverage policy started about three years ago, when he and his colleagues first started looking into next-generation sequencing for diagnosing children with suspected genetic conditions who had not received a diagnosis with traditional genetic testing. At the time, the health plan was unwilling to pay for the testing, saying that it was too investigational and did not meet its criteria for coverage.
Williams' team proceeded to test children under a whole-genome sequencing clinical research program that was funded by the Geisinger Health System, publishing initial results on the value of pre-test review and counseling two years ago. In addition, clinical exome sequencing was utilized by Geisinger's Autism & Developmental Medicine Institute and by Geisinger clinical geneticists, Williams said, and payors were willing to cover some of the tests on a case-by-case basis.
Earlier this year, his team met with the health plan's technology assessment committee and presented them with an account of their experience with exome and genome sequencing so far, as well as with a summary of the literature, including a 2014 study by researchers at Children's Mercy in Kansas City on the clinical utility and cost-effectiveness of clinical exome and genome sequencing in children with neurodevelopment disorders, and another study published that year by the Kennedy Krieger Institute in Baltimore on the clinical utility of exome sequencing in pediatric neurology.
Besides showing that the diagnostic yield at Geisinger was similar to that reported in the literature, they demonstrated that in 50 to 60 percent of cases that yielded a diagnosis, this led to a change in medical management that benefited the patient and their family.
They also presented the health plan with a list of diagnostic tests, the names of which had been removed, as well as their cost, diagnostic yield, and change in medical management. Among them was a $6,000 brain MRI, which the health plan would generally cover for a child with an undiagnosed neurogenetic disorder.
"That was a little bit cheeky," Williams said. "I just wanted to point out that while there is frequently concern raised because of the cost of a genetic test, the reality is that an imaging study in a child, because of the need to use sedation, actually costs more than an exome sequence, it has a much lower diagnostic yield, and the literature shows that there are many fewer changes in medical management than what we are beginning to experience with exome sequencing."
Primarily based on the evidence of the changes in medical management and patient benefits resulting from exome sequencing, Williams said, the health plan decided the test now meets its criteria for coverage, and asked the Geisinger team to help craft a coverage policy. Coverage, Williams said, will rely heavily on the judgment of the geneticist, pediatric neurologist, or developmental pediatrician and will include patients with disorders of suspected genetic etiology but no obvious diagnosis as well as patients with a suspected diagnosis that could involve one of several genes. Epileptic encephalopathy, he said, is of particular interest as the diagnostic yield is high and a diagnosis can inform treatment in some cases.
Somewhat to their surprise, the health plan was also interested in the potential benefits of secondary findings, Williams said. The Geisinger researchers had a couple of examples of families who had received secondary findings, based on the analysis of the ACMG-recommended gene list. In many cases, such results, for example mutations in cancer predisposition genes, lead to increased screening of patients and family members to prevent future disease, which the health plan saw as an added benefit of an exome or genome test.
"We were a little bit surprised because there has at least been some concern expressed by some payor representatives that these secondary or incidental findings would in fact create a lot of additional utilization that would not have value," Williams said. "But that was not the perspective of our health plan."
He added that the Geisinger Health Plan already covers Lynch syndrome gene testing and BRCA testing, for example, and was thus already familiar with the benefits of this. "This reflects the fact that we've been working with these people for a very long time," Williams said, "so they have a certain level of comfort with genetic testing."
Going forward, he and his colleagues plan to convince other insurance carriers to start covering exome testing. Williams said they have identified a handful of payors that account for about half of the third-party payments they receive. "So, we actively reach out to them to try and provide education about what it is we do, and give the same sort of presentation that we did for our health plan."
The same could work for others, he believes. "My advice for my colleagues is, identify who your major payors are, identify who the medical directors are, and try to arrange for opportunities to come and talk with them, and be prepared to bring evidence of why what you are doing makes sense for them to cover," he said. "It's not always going to work — there is an adoption curve, as with anything else. But if we go in there, not as adversaries but as educators, which I think geneticists are generally very good at, I think we have a better chance."