Evidence map›Paper›PMID 35339388›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022

Integrating clinical genetics in cardiology: Current practices and recommendations for education.

Courtney L Scherr, Kerstin Kalke, Sanjana Ramesh, Hoda Fakhari, Lisa M Dellefave-Castillo, Maureen E Smith, Callie Kalny, Elizabeth M McNally, Laura J Rasmussen-Torvik

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–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

9 citing papers in PubMed.

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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

9 authors.

Courtney L ScherrDepartment of Communication Studies, School of Communication, Northwestern University, Evanston, IL. Electronic address: courtney.scherr@northwestern.edu.
Kerstin KalkeDepartment of Communication Studies, School of Communication, Northwestern University, Evanston, IL.
Sanjana RameshDepartment of Communication Studies, School of Communication, Northwestern University, Evanston, IL.
Hoda FakhariDepartment of Communication Studies, School of Communication, Northwestern University, Evanston, IL.
Lisa M Dellefave-CastilloCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL; Division of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL.
Maureen E SmithCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL; Division of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL.
Callie KalnyDepartment of Communication Studies, School of Communication, Northwestern University, Evanston, IL.
Elizabeth M McNallyCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL; Division of Cardiology, Department of Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL; Department of Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL.
Laura J Rasmussen-TorvikCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL; Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL.

Funding

Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8M
Cardiomyopathy Genomes ProjectR01HL128075 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MCNALLY, ELIZABETH M, NOBREGA, MARCELO A. · 2015 to 2023
$5.3M
NCATS NIH HHS UL1 TR001422NHLBI NIH HHS R01 HL128075
6 · The paper itself

Abstract

purposeRecent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing.

methodsQualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts.

resultsParticipants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts' importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result.

conclusionParticipants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.

Indexed as

CardiologyGenetic TestingHumansCardiologyClinical practiceGenetics

Identifiers

PMID35339388
PMCPMC9991006

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.