Evidence map›Paper›PMID 23306799›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013

Implementing genomic medicine in the clinic: the future is here.

Teri A Manolio, Rex L Chisholm, Brad Ozenberger, Dan M Roden, Marc S Williams, Richard Wilson, David Bick, Erwin P Bottinger, Murray H Brilliant, Charis Eng and 15 more

Abstract readReview
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 292 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
292citing papers in PubMed, 6 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

292 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Pooled it
  4. Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Pooled it
  5. Pooled it
  6. Pooled it
  7. Trial
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  9. Trial
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
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  17. Current understanding and future directions in severe asthma through artificial intelligence-integrated multi-omic approaches.European respiratory review : an official journal of the European Respiratory Society · 2026
    Review
  18. Article
  19. Article
  20. Article

232 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors.

Teri A ManolioNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. manolio@nih.gov
Rex L Chisholm
Brad Ozenberger
Dan M Roden
Marc S Williams
Richard Wilson
David Bick
Erwin P Bottinger
Murray H Brilliant
Charis Eng
Kelly A Frazer
Bruce Korf
David H Ledbetter
James R Lupski
Clay Marsh
David Mrazek
Michael F Murray
Peter H O'Donnell
Daniel J Rader
Mary V Relling
Alan R Shuldiner
David Valle
Richard Weinshilboum
Eric D Green
Geoffrey S Ginsburg

Funding

Biorepository for Genomic Medicine in diverse CommunitiesU01HG006380 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOTTINGER, ERWIN P. · 2011 to 2015
$4.5M
The role of epigenetics and miRNAs in IPFR01HL109481 · NHLBI · WEST VIRGINIA UNIVERSITY · PI MARSH, CLAY B, PIPER, MELISSA G · 2012 to 2015
$1.6M
NHGRI NIH HHS U01 HG006380NHLBI NIH HHS R01 HL109481
6 · The paper itself

Abstract

Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices.Genet Med 2013:15(4):258-267.

Indexed as

GenomicsGenetics, MedicalHumansResearch

Identifiers

PMID23306799
PMCPMC3835144

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.