The ACMG has released updated guidance on preconception and prenatal carrier screening. Multiple factors were taken into consideration for this document, including optimal panel size and which genes should be included. This document divides carrier screening into 4 tiers (see below). In addition, the committee addressed the question of making panels panethnic vs separating these tests out by race and/or ethnicity
ACMG Has Developed a Tiered Approach to Screening
ACMG Recommendations
Note: ACMG provides a robust explanation for selection of Tier 3 as the recommended panel | Research demonstrates a carrier frequencies of <1/200 adds a “diminishingly small” number of at risk couples (see ‘Learn More – Primary Care Sources’ below)
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
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