Evidence map›Paper›PMID 34363016›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

David R Murdock, Eric Venner, Donna M Muzny, Ginger A Metcalf, Mullai Murugan, Trevor D Hadley, Varuna Chander, Paul S de Vries, Xiaoming Jia, Aliza Hussain and 29 more

Open access · greenAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
4.3field-weighted citation impact, top 5% of its field
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

22 citing papers in PubMed, 35 citations in OpenAlex.

  1. An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
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  6. Functional Profiling ofCirculation. Genomic and precision medicine · 2025
    Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Development of a comprehensive cardiovascular disease genetic risk assessment test.medRxiv : the preprint server for health sciences · 2024
    Article
  13. Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024
    Article
  14. Article
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  16. Review
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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

39 authors at 3 institutions in 1 country.

David R MurdockHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Eric VennerHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Ginger A MetcalfHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Mullai MuruganHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Trevor D HadleyDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Varuna ChanderHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Paul S de VriesHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, USA.
Xiaoming JiaDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Aliza HussainDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Ali M AghaDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Aniko SaboHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Shoudong LiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Qingchang MengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Jianhong HuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Xia TianHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Michelle CohenHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Victoria YiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Christie L KovarHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Marie-Claude GingrasHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Viktoriya KorchinaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Chad HowardInformation Technology, Baylor College of Medicine, Houston, TX, USA.
Daniel L RicondaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Stacey PereiraCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Hadley S SmithCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Zohra A HudaDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Alexandria BuentelloDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Patricia R MarinoDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Lee LeiberInformation Technology, Baylor College of Medicine, Houston, TX, USA.
Ashok BalasubramanyamDepartment of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.
Christopher I AmosInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Andrew B CivitelloDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Mihail G CheluDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Ronald MaagDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Xander H T WehrensDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Christie M BallantyneDepartment of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. agibbs@bcm.edu.
Baylor College of Medicine · USHouston Institute for Clinical Research · USThe University of Texas Health Science Center at Houston · US

Funding

Whole-genome sequencing analysis of coronary atherosclerosis and related traitsR01HL146860 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DE VRIES, PAUL STEFAN · 2020 to 2024
$3.9M
NHLBI NIH HHS R01 HL146860
6 · The paper itself

Abstract

purposeCardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not universally accepted.

methodsWe developed the "HeartCare" panel of genes associated with CVD, evaluating high-penetrance Mendelian conditions, coronary artery disease (CAD) polygenic risk, LPA gene polymorphisms, and specific pharmacogenetic (PGx) variants. We enrolled 709 individuals from cardiology clinics at Baylor College of Medicine, and samples were analyzed in a CAP/CLIA-certified laboratory. Results were returned to the ordering physician and uploaded to the electronic medical record.

resultsNotably, 32% of patients had a genetic finding with clinical management implications, even after excluding PGx results, including 9% who were molecularly diagnosed with a Mendelian condition. Among surveyed physicians, 84% reported medical management changes based on these results, including specialist referrals, cardiac tests, and medication changes. LPA polymorphisms and high polygenic risk of CAD were found in 20% and 9% of patients, respectively, leading to diet, lifestyle, and other changes. Warfarin and simvastatin pharmacogenetic variants were present in roughly half of the cohort.

conclusionOur results support the use of genetic information in routine cardiovascular health management and provide a roadmap for accompanying research.

Indexed as

CardiologyCardiovascular DiseasesAdultGenetic TestingHumansPharmacogeneticsPharmacogenomic TestingUnited States

Identifiers

PMID34363016
PMCPMC8931845
OpenAlexW3188529885

What OpenQuestion holds

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Registered trials

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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.