Community data-driven approach for generating cross-ethnic population carrier screening panel

The ACMG has recently published tier-based recommendations for carrier screening. While many pan-ethnic conditions are well established, some genes carry pathogenic founder variants (PFVs) prevalent only in specific ethnic groups, and may therefore not be assigned into the correct tier or not represented at all. Moreover, while the majority ethnic groups are usually well-characterized, minority ethnic subpopulations are often less investigated and therefore important PFVs for these ethnicities may not be taken into account.