The National Society of Genetic Counselors (NSGC) released practice guidelines on Feb. 9 that stress the need for expanded carrier screening for reproductive risk assessment.

Katelynn G. Sagaser, of Juno Diagnostics in San Diego, and colleagues recommend expanded carrier screening be made available “for all individuals considering reproduction and all pregnant reproductive pairs,” regardless of racial or ethnic background. This includes all pregnant people, all who may become pregnant, and all who would otherwise biologically contribute to a pregnancy.

Expanded carrier screening involves testing healthy individuals regardless of ethnic background or family history to determine whether they are carriers of multiple autosomal recessive and X-linked conditions that could be inherited by a fetus.

However, 360Dx reported recently that genetic counselors have seen an increase in denials for expanded carrier screening, in particular from major payers such as UnitedHealthcare (UHC). In a December 2022 policy paper, UHC declared expanded carrier screening to be “unproven and not medically necessary for all indications due to insufficient evidence of efficacy.” The UHC policy allows coverage for ethnicity-based carrier screening, specifically for those who are Ashkenazi Jewish. UHC writes that this policy is based on a lack of both professional standardization and evidence of clinical efficacy for the broader use of expanded carrier screening.

The NSGC practice guidelines urge payers and providers to consider the benefit of expanded carrier screening for all individuals, as making the option for this testing widely available could lead to identifying more carriers of autosomal recessive and X-linked conditions.

“Insurance reimbursement for ECS is critically important,” Sagaser and colleagues write. “Collaboration between ECS stakeholders is necessary to identify and implement solutions that improve ECS cost-effectiveness and access to comprehensive risk assessment.”