Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States.

Autor:	Hull LE; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Cambridge, Cambridge, MA. Electronic address: lhull1@mgh.harvard.edu., Flannery K; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA., Kaimal A; Department of Obstetrics and Gynecology, University of South Florida Morsani College of Medicine, Tampa, FL., Sepucha K; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA., Rehm HL; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Cambridge, Cambridge, MA; Center for Genomic Medicine, Simches Research Center, Massachusetts General Hospital, Boston, MA., Haas JS; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100946. Date of Electronic Publication: 2023 Jul 30.
DOI:	10.1016/j.gim.2023.100946
Abstrakt:	Purpose: Although preconception reproductive genetic carrier screening (RGCS) is preferred to screening during pregnancy, population-wide preconception screening is not routinely performed in the United States. We explored the multilevel barriers to the widespread adoption of preconception RGCS in the United States via key informant interviews. Methods: Semi-structured virtual video interviews were conducted with 29 informants with a breadth of professional expertise between May and October 2022. Data collection and qualitative analyses were guided by the Consolidated Framework for Implementation Research and socioecological model. Analysis focused on identifying barriers to delivering preconception RGCS at and across different levels of health care and exploring potential facilitators of preconception RGCS delivery. Results: Barriers to preconception RGCS were identified at the levels of test characteristics, patients and couples, clinicians and care teams, and the external health care and policy environments. Across the different levels of care delivery, 3 themes of barriers emerged: (1) fragmentation and inconsistencies hinder care delivery, (2) gaps in knowledge, misconceptions, and uncertainties about RGCS are pervasive, and (3) expanding preconception RGCS in the diverse US population presents unique implementation challenges. Potential solutions were detailed by informants. Conclusion: Identifying individual and thematic barriers to preconception RGCS delivery may help to define strategies to alleviate obstacles. Competing Interests: Conflict of Interest The authors declare no conflicts of interest. (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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