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

Genetics in medicine : official journal of the American College of Medical Genetics
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Abstract

PURPOSE: Although preconception reproductive genetic carrier screening (RGCS) is preferred to screening during pregnancy, population-wide preconception screening is not routinely performed in the U.S. We explored the multilevel barriers to the widespread adoption of preconception RGCS in the U.S. 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 healthcare 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 healthcare and policy environments. Across the different levels of care delivery three themes of barriers emerged: I. Fragmentation and inconsistencies hinder care delivery, II. Gaps in knowledge, misconceptions, and uncertainties about RGCS are pervasive, and III. Expanding preconception RGCS in the diverse U.S. 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.

Year of Publication
2023
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Pages
100946
Date Published
07/2023
ISSN
1530-0366
DOI
10.1016/j.gim.2023.100946
PubMed ID
37534745
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