Within the Feb. 9 guidelines from the National Society of Genetic Counselors (NSGC) are some notable recommendations for laboratories to increase equitable access to expanded carrier screening (ECS).

“Efforts should be directed to addressing recognized barriers to ECS, including but not limited to cost/insurance coverage for both members of a reproductive pair, adequate informed consent, provider and patient education needs, and wider access to genetics professionals as needed in the prenatal and preconception periods alike,” write the guideline authors, led by Katelynn G. Sagaser, of Juno Diagnostics in San Diego.

Specifically for commercial laboratories, Sagaser and colleagues recommend that laboratories “develop compliant mechanisms by which partner testing can be increasingly accessible for all patients.” They explain that with the advent of next-generation sequencing assays, more genes can be added to existing platforms with a minimal change in cost per assay run but with an increase in the number of necessary partner tests for comprehensive reproductive risk assessment.

The American College of Medical Genetics and Genomics (ACMG) also provides strong recommendations that all payers provide coverage to screen for conditions with ≥1/200 carrier frequency and X-linked conditions. Both the NSGC and ACMG have expressed their support for the Access to Genetic Counselor Services Act of 2021 (H.R. 2144/S. 1450), which would expand Medicare Part B coverage for services furnished by genetic counselors.

“Enabling broader Medicare beneficiary access to genetic counselors will help ensure appropriate genetic testing, provide critical knowledge to beneficiaries to fully understand test results that are often complex, and further integrate genetic counselors into the health care team,” the NSGC wrote in a letter to congressional representatives.