Article
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
American journal of human genetics - 6 Mar 2025
Wenger Tara L, Scott Abbey, Kruidenier Lukas, Sikes Megan, Keefe Alexandra, Buckingham Kati J, Marvin Colby T, Shively Kathryn M, Bacus Tamara, Sommerland Olivia M, Anderson Kailyn, Gildersleeve Heidi, Davis Chayna J, Love-Nichols Jamie, MacDuffie Katherine E, Miller Danny E, Yu Joon-Ho, Snook Amy, Johnson Britt, Veenstra David L, Parish-Morris Julia, McWalter Kirsty, Retterer Kyle, Copenheaver Deborah, Friedman Bethany, Juusola Jane, Ryan Erin, Varga Renee, Doherty Daniel A, Dipple Katrina, Chong Jessica X, Kruszka Paul, Bamshad Michael J
Abstract excerpt
Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because the complex inclusion criteria used to prioritize testing eligibility omit many patients at high risk for a genetic condition. SeqFirst-neo is a program to test whether a genotype-driven workflow using simple, broad exclusion criteria to assess eligibility for rapid genome sequencing (rGS) increases access...
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