A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.

Autor:	Cope HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA. Electronic address: hcope@rti.org., Milko LV; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Jalazo ER; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Crissman BG; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Foreman AKM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Powell BC; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., deJong NA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Hunter JE; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Boyea BL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Forsythe AN; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Wheeler AC; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Zimmerman RS; GeneDx, LLC, Gaithersburg, Maryland, USA., Suchy SF; GeneDx, LLC, Gaithersburg, Maryland, USA., Begtrup A; GeneDx, LLC, Gaithersburg, Maryland, USA., Langley KG; GeneDx, LLC, Gaithersburg, Maryland, USA., Monaghan KG; GeneDx, LLC, Gaithersburg, Maryland, USA., Kraczkowski C; GeneDx, LLC, Gaithersburg, Maryland, USA., Hruska KS; GeneDx, LLC, Gaithersburg, Maryland, USA., Kruszka P; GeneDx, LLC, Gaithersburg, Maryland, USA., Kucera KS; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA., Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Powell CM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Peay HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina, USA.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 04, pp. 101290. Date of Electronic Publication: 2024 Oct 04.
DOI:	10.1016/j.gim.2024.101290
Abstrakt:	Purpose: Research is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly inconsistent gene lists across studies. Methods: Early Check developed and utilized actionability-based frameworks for evaluating gene-condition pairs for inclusion in newborn panels (Panel 1 - high actionability, Panel 2 - possible actionability). A previously developed framework, the Age-based Semi Quantitative Metric (ASQM), was adapted. Increasing ASQM scores, with a maximum of 15, suggest greater actionability. Wilcoxon tests were performed to compare Panel 1 gene-condition pairs on the Recommended Uniform Screening Panel (RUSP) to non-RUSP pairs. Results: In our first round of assessment, Early Check identified 178 gene-condition pairs for inclusion in Panel 1 and 29 for Panel 2. Median ASQM scores of RUSP conditions on Panel 1 was 12 (range 4 to 15) and non-RUSP was 13 (range 9 to 15). Median scores for Panel 2 was 10 (range 6 to 14). Conclusion: The Early Check frameworks provide a transparent, semiquantitative, and reproducible methodology for selecting gene-condition pairs for NBS sequencing pilot studies that may inform future integration of genomic sequencing into population-level NBS. Collaborative efforts among newborn sequencing studies to establish shared criteria is needed to enhance cross-study comparisons. (Copyright © 2024. Published by Elsevier Inc.)
Databáze:	MEDLINE
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