Evidence map›Paper›PMID 27757064›Full record

ReviewDialogues in clinical neuroscience2016

Genomic sequencing in clinical practice: applications, challenges, and opportunities.

Joel B Krier, Sarah S Kalia, Robert C Green

Open access · diamondAbstract readReview
In one paragraph

Review in Dialogues in clinical neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 2 pooled it
6.6field-weighted citation impact, top 3% 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

42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.

  1. Pooled it
  2. Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  3. Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026
    Review
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  9. 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 · 2023
    Article
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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

3 authors at 2 institutions in 1 country.

Joel B KrierGenomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA.
Sarah S Kalia
Robert C GreenGenomes2People Research Program, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Broad Institute · USHarvard University · US

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTIN, CHRISTA LESE, REHM, HEIDI L · 2013 to 2020
$26.9M
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Center for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4M
Genome Sequence-Based Screening for Childhood Risk and Newborn IllnessU19HD077671 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI BEGGS, ALAN H., GREEN, ROBERT C. · 2013 to 2018
$6.1M
NHGRI NIH HHS U01 HG007690NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U41 HG006834NICHD NIH HHS U19 HD077671NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management. The rapid pace of adoption has created challenges for all stakeholders in clinical GS, from standardizing variant interpretation approaches in clinical molecular laboratories to ensuring that nongeneticist clinicians are prepared for new types of clinical information. Clinical GS faces a pivotal moment, as the vast potential of new quantities and types of data enable further clinical innovation and complicated implementation questions continue to be resolved.

Indexed as

Genetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansclinical genomicsexome sequencinggenome sequencinggenomic sequencingmedical genomics

Identifiers

PMID27757064
PMCPMC5067147
OpenAlexW2563545471

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.