Evidence map›Paper›PMID 37534745›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

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

Leland E Hull, Kelsey Flannery, Anjali Kaimal, Karen Sepucha, Heidi L Rehm, Jennifer S Haas

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Leland E HullDivision 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.
Kelsey FlanneryDivision of General Internal Medicine, Massachusetts General Hospital, Boston, MA.
Anjali KaimalDepartment of Obstetrics and Gynecology, University of South Florida Morsani College of Medicine, Tampa, FL.
Karen SepuchaDivision of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Heidi L RehmHarvard 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.
Jennifer S HaasDivision of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA.

Funding

Elucidating the barriers and facilitators to widespread implementation of preconception genetic carrier screeningK08HG012221 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI HULL, LELAND · 2022 to 2025
$883k
NHGRI NIH HHS K08 HG012221
6 · The paper itself

Abstract

purposeAlthough 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.

methodsSemi-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.

resultsBarriers 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.

conclusionIdentifying individual and thematic barriers to preconception RGCS delivery may help to define strategies to alleviate obstacles.

Indexed as

Delivery of Health CarePrimary Health CareData CollectionFemaleHumansPregnancyQualitative ResearchReproductionUnited StatesCarrier screeningCFIRHealth care deliveryImplementation scienceQualitative data

Identifiers

PMID37534745
PMCPMC10825062

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.