NEW YORK (GenomeWeb) – Researchers from the University of California, San Francisco, Tufts University, and the American Institutes for Research are creating a registry that could help laboratories, health care providers, and other users of next-generation sequencing genetic tests make more informed decisions of what test to order and for whom.
Kathryn Phillips, founder and director of UCSF's Center for Translational and Policy Research on Personalized Medicine and principal investigator of the project, told GenomeWeb that the group secured a grant for an undisclosed amount from the National Human Genome Research Institute to develop the registry, and expects to have it up and running in about one year.
She said the main goal of the registry will be to help NGS genetic test users navigate the often confusing landscape of available NGS tests, reimbursement policies, and clinical recommendations for using such tests.
"Understanding what is being covered and why," has proven to be especially difficult for laboratories, health care providers and other stakeholders, Phillips said. "The coverage is very uncertain. People really would like to know how these tests are going to be covered or if they are going to be covered."
Others have also cited reimbursement as a major hurdle toward adoption of NGS tests in the clinic. In an editorial published recently in the Journal of the American Medical Association, researchers attempted to address some of those challenges by laying out a plan for test developers to create a framework for a reimbursement policy.
Phillips pointed to hereditary cancer screening as an example of a field that could benefit from such a registry. As BRCA1 and BRCA2 screening for hereditary forms of breast and ovarian cancer switch to panel-based testing for more than just the two BRCA genes, it quickly becomes confusing trying to determine the differences between the panel tests in terms of what genes are included, cost, and whether insurance will pay for it.
"There are a lot of different panels out there, and there are going to have to be coverage policies," she said. "We're trying to get ahead of the curve."
The noninvasive prenatal testing field has been at the forefront in terms of gaining positive coverage decisions for NGS-based tests. However, even within that field there is still uncertainty. While most companies are reporting that they are being reimbursed by commercial payors, Medicaid only pays in some states, and some payors cover on a case-by-case basis.
For instance, Sequenom most recently reported that it has 142 million lives covered under contract and that Medicaid was reimbursing in 15 states for MaterniT21 Plus, its noninvasive prenatal fetal aneuploidy test. The firm has also said that a new molecular diagnostic code that will go into effect in January 2015 will help smooth out reimbursement processes.
Other NGS-based tests may also soon have CPT codes to submit to payors. In October, the Centers for Medicare and Medicaid Services released its preliminary clinical laboratory fee schedule, and the American Medical Association said in March it had accepted new CPT codes for NGS-based genomic tests.
Phillips said she hopes to include data in the registry not only on which tests are being covered, but why. That way, "we can look at where the gaps are, what factors are associated with a positive or negative coverage decision, and the frameworks being used to make coverage decisions," she said.
The registry will be free to access, she said, and the researchers will not rely on voluntary reporting of information. Instead, they will use data collected from published literature, company reports, existing registries, and other sources.
The team will solicit input from a multidisciplinary group of stakeholders, including payors, industry representatives, professional organizations, patients, providers, genetic counselors, investors, laboratories, and regulators.
Phillips said the group hopes to include not only cost data and whether or not a test is covered, but also its FDA regulation status, whether clinical guidelines or professional organizations support the use of the test, and any cost-effectiveness data.
Down the road, Phillips said the group is also aiming to launch a consumer-focused version of the registry, which would have a simpler, more user-friendly interface and may not include all the intricacies of the first iteration, but will emphasize the details that consumers are concerned about, like cost.