New Guidance from the American College of Medical Genetics (ACMG)
Carrier screening protocols should be ethnic and population neutral
Populations have become more diverse, which makes relying on self-identification of ethnicity flawed. Reports have shown that carriers are often identified outside of the traditional at-risk groups. An ethnic-neutral approach is more inclusive of diverse populations.
ACMG establishes a new tier-based system for disorder selection
ACMG has standardized the criteria for disorder inclusion by developing a tiered approach based on disorder severity and known carrier frequency. This practical framework allows for uniformity across testing laboratories and promotes equity in screening.
ACMG recommends Tier 3 carrier screening
ACMG recommends all pregnant patients and those planning a pregnancy be offered Tier 3 carrier screening for autosomal recessive and X-linked disorders. Disorders included have a carrier frequency of ≥ 1 in 200. Since carrier frequencies are not uniform across populations, ACMG uses a maximum carrier frequency to include populations where carriers are more common.