Recessive Carrier Screening

Nearly half of analyzed Hong Kong Chinese participants carried at least one pathogenic or likely pathogenic variant in ACMG carrier screening genes. The ACMG carrier gene virtual at-risk couple frequency was 6.60% and was dominated by GJB2. The Chinese-specific carrier panel doubled reproductive risk coverage while using fewer genes. Chinese-specific re-tiering reduced the screening panel to 61 genes while increasing carrier detection and modeled reproductive risk coverage. Actual couple validation closely matched the virtual at-risk couple model. At-risk couple frequency was modeled using all possible pairings among unrelated Chinese participants.