Evidence map›Paper›PMID 24717670›Full record

ReviewCurrent opinion in cardiology2014

Genetic testing in cardiovascular diseases.

Anne-Karin Arndt, Calum A MacRae

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Current opinion in cardiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01736566 (The MedSeq Project Pilot Study), which is not on this map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.2field-weighted citation impact, top 7% 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.

NCT01736566 nacompletednot on this map

The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine

TypeinterventionalSponsorBrigham and Women's HospitalRan2011 to 2021Enrolled213ConditionsHealthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated CardiomyopathyArmsFamily History + Whole Genome Sequencing, Family History Only
3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 34 citations in OpenAlex.

  1. Article
  2. Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022
    Article
  3. Article
  4. Article
  5. Vascular Genetics: Presentations, Testing, and Prognostics.Current treatment options in cardiovascular medicine · 2018
    Review
  6. Article
  7. IDENTIFYING NEW SUDDEN DEATH GENES.Transactions of the American Clinical and Climatological Association · 2018
    Article
  8. Article
  9. Genetics of congenital heart disease.Current opinion in cardiology · 2016
    Review
  10. Gene scanning and heart attack risk.Trends in cardiovascular medicine · 2016
    Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Cardiovascular genetics: paying individual dividends.Science translational medicine · 2014
    Article
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

2 authors at 1 institution in 1 country.

Anne-Karin ArndtaDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Campus Kiel, Kiel, Germany bCardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Calum A MacRae
Brigham and Women's Hospital · US

Funding

Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
NHGRI NIH HHS U01 HG006500
6 · The paper itself

Abstract

purpose of reviewThe review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges. RECENT

findingsAmong the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care. SUMMARY: The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.

Indexed as

Cardiovascular DiseasesExomeGenetic TestingGenome, HumanCyclic GMP-Dependent Protein Kinase Type IDisease ManagementDNA-Binding ProteinsGenetic Predisposition to DiseaseGenetic TherapyHumansNAV1.5 Voltage-Gated Sodium ChannelSmad2 ProteinTranscription FactorsTranslational Research, BiomedicalCyclic GMP-Dependent Protein Kinase Type IDNA-Binding ProteinsNAV1.5 Voltage-Gated Sodium ChannelPRDM16 protein, humanPRKG1 protein, humanSmad2 ProteinTranscription Factors

Identifiers

PMID24717670
PMCPMC4129647
OpenAlexW2135828414

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.