Clinical experience with multigene carrier panels in the reproductive setting.

OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. RESULTS: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. CONCLUSIONS: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.

Genetic testing insurance coverage trends: a review of publicly available policies from the largest US payers.

AIM: Health plan coverage policies can influence utilization of genetic tests. Our goal was to characterize the current state of test-related policies from US private payers. METHODS: We searched the public websites of 206 insurers for coverage policies. We documented the number of policies, tests mentioned, coverage determination and policy effective dates. RESULTS: Approximately one-third of insurers had at least one genetic testing policy. Moderate consistency was seen between payers. Tests in oncology and personalized medicine were most frequently addressed. Half of the policies specifically excluded coverage of a particular genetic service. Nearly half of insurers had at least one out-of-date policy. CONCLUSION: Genetic services are addressed by many large health plans. Challenges remain in ensuring consistency and currency of payer policy for genetic tests.