While sequencing the exomes of patients with rare diseases may end their diagnostic odysseys and possibly offer treatment ideas, insurers are beginning to re-think reimbursing such tests, Reuters reports. Insurance companies argue that there is no proof that sequencing results will lead to "meaningful treatments," the news agency adds.
"There are some companies that are saying out and out, we won't cover this test," says Christine Eng, the director of the Whole Genome Sequencing Laboratory at Baylor College of Medicine. Initially, she notes, more companies covered such testing, but the number of denials has increased as testing volume has increased.
"There's a lot of testing we're doing that's getting denied. We appeal it," adds Allen Bale, director of the DNA Diagnostic Lab at the Yale School of Medicine. "A lot of time that works, but it's case by case."
Sequencing, Aetna's James Cross says, has gotten ahead of itself. His company, Reuters notes, makes coverage decisions based on whether an individual test affects patient outcomes. "With sequencing, you've got a lot of information that we don't have that kind of evidence around," he says.
In a report, insurer Blue Cross Blue Shield says exome sequencing might be able to identify the genetic cause of disease in about half of patients, but that it will only help a smaller portion as treatments don't yet exist. Blue Cross Blue Shield plans in states like Louisiana, North Carolina, and Pennsylvania have given exome sequencing "investigational" status, and it is not eligible for coverage, Reuters adds.
Even without providing a treatment plan, some say that just having a diagnosis can be helpful and end the repeated testing that itself can add up. "There's a monumental relief with diagnosis. It changes everything," Baylor's Richard Gibbs says.