SER: Bimal Chaudhari (Chair), Elizabeth Barnby, Subit Barua, Gregory Costain, Akanchha Kesari, Paul Kruszka (PP&G Committee Liaison), Rong Mao, Bree Martin, Nifang Niu, Stefan Rentas, Laura Sack, Erica Sanford Kobayashi, Cristy Stagnar, Sofia Torreggiani
EBG: Rebecca Burke (Co-chair), Paul Kruszka (Co-chair, PP&G Committee Liaison), Sawona Biswas, Kyle Brothers, Matthew Ellinwood, Gilda Garza-Mayen, Saumya Jamuar, Marco Leung, Jun Liao, Catherine Rehder, Andrea Scheurer-Monaghan, Molly Schroeder, Ahmad Tayoun, Monica Wojcik, Yao Yang
ACMG recently published its first evidence-based guideline (EBG) for exome/genome sequencing (ES/GS) for individuals with congenital anomalies and/or intellectual disability. However, since then, there has been a consistent appeal from members to specifically consider the utility of rapid ES/GS (rES/GS) in the NICU/PICU. Methodological review has found a growing evidence base, including some studies identified in the 2020 ACMG SER, with sufficient peer-reviewed publications and a substantial amount of supporting grey literature to develop an EBG specifically for this narrowly defined application of ES/GS.
Status: SER is conducting the literature search. EBG is in GRADE training.