Evidence map›Paper›PMID 24917882›Full record

ReviewFrontiers in genetics2014

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future.

Steven J Schrodi, Shubhabrata Mukherjee, Ying Shan, Gerard Tromp, John J Sninsky, Amy P Callear, Tonia C Carter, Zhan Ye, Jonathan L Haines, Murray H Brilliant and 4 more

Abstract readReview
In one paragraph

Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 2 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

39 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
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  11. Article
  12. Human height: a model common complex trait.Annals of human biology · 2023
    Review
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  20. The Genetic Architecture of High Bone Mass.Frontiers in endocrinology · 2020
    Review
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

14 authors.

Steven J SchrodiCenter for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Shubhabrata MukherjeeDepartment of Medicine, School of Medicine, University of Washington Seattle, WA, USA.
Ying ShanDepartments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh PA, USA.
Gerard TrompSigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA.
John J SninskySubsidiary of Quest Diagnostics, Discovery Research, Celera Corporation Alameda, CA, USA.
Amy P CallearCenter for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA ; Department of Biological Sciences, University of Pittsburgh Pittsburgh, PA, USA.
Tonia C CarterCenter for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Zhan YeBiomedical Informatics Research Center, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve School of Medicine Cleveland, OH, USA.
Murray H BrilliantCenter for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Paul K CraneDepartment of Medicine, School of Medicine, University of Washington Seattle, WA, USA.
Diane T SmelserSigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA.
Robert C ElstonDepartment of Epidemiology and Biostatistics, Case Western Reserve School of Medicine Cleveland, OH, USA.
Daniel E WeeksDepartments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh PA, USA.

Funding

Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
INSTITUTIONAL CTSA (UW-MADISON): CLINICAL TRIALSUL1RR025011 · NCRR · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2007 to 2011
$29.5M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
Vanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3M
eMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4M
Geisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3M
Genetic Discovery and Application in a Clinical Setting Continuing a PartnershipU01HG006375 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI JARVIK, GAIL PAIRITZ, LARSON, ERIC B · 2011 to 2014
$4.1M
Vanderbilt Genome Electronic Records ProjectU01HG006378 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2011 to 2014
$4.0M
Genome-Wide Study of Cataract and Low HDL in the Personalized Medicine Research PU01HG004608 · NHGRI · MARSHFIELD CLINIC RESEARCH FOUNDATION · PI MCCARTY, CATHERINE ANNE · 2007 to 2010
$3.3M
NCATS NIH HHS UL1 TR000427NCRR NIH HHS UL1 RR025011NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004603NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006385
6 · The paper itself

Abstract

Translation of results from genetic findings to inform medical practice is a highly anticipated goal of human genetics. The aim of this paper is to review and discuss the role of genetics in medically-relevant prediction. Germline genetics presages disease onset and therefore can contribute prognostic signals that augment laboratory tests and clinical features. As such, the impact of genetic-based predictive models on clinical decisions and therapy choice could be profound. However, given that (i) medical traits result from a complex interplay between genetic and environmental factors, (ii) the underlying genetic architectures for susceptibility to common diseases are not well-understood, and (iii) replicable susceptibility alleles, in combination, account for only a moderate amount of disease heritability, there are substantial challenges to constructing and implementing genetic risk prediction models with high utility. In spite of these challenges, concerted progress has continued in this area with an ongoing accumulation of studies that identify disease predisposing genotypes. Several statistical approaches with the aim of predicting disease have been published. Here we summarize the current state of disease susceptibility mapping and pharmacogenetics efforts for risk prediction, describe methods used to construct and evaluate genetic-based predictive models, and discuss applications.

Indexed as

clinical utilitygenetic riskhuman geneticspredictive modelprognosis

Identifiers

PMID24917882
PMCPMC4040440

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.