Evidence map›Paper›PMID 23595601›Full record

ArticleCurrent protocols in human genetics2013

Management of incidental findings in clinical genomic sequencing.

Joel B Krier, Robert C Green

Registry-linked trialAbstract read
In one paragraph

Article in Current protocols in human genetics, 2013. 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 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–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.

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

13 citing papers in PubMed.

  1. Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026
    Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. A Systematic Review of the Management of Incidental Findings in Genomic Research.BEOnline : journal of the West African bioethics training program · 2016
    Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. 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.

Joel B KrierHarvard Medical School Genetics Training Program, Boston, MA, USA.
Robert C Green

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Molecular and Genomic Imaging CenterP50HG003170 · NHGRI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHURCH, GEORGE M · 2004 to 2009
$11.5M
Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI ExperimentR01CA154517 · NCI · MAYO CLINIC ROCHESTER · PI KOENIG, BARBARA A., PETERSEN, GLORIA M. · 2011 to 2015
$2.7M
Managing Incidental Findings in Human Subjects ResearchR01HG003178 · NHGRI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI WOLF, SUSAN M. · 2005 to 2010
$1.5M
Impact of Direct to Consumer Genetic TestingR01HG005092 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., ROBERTS, SCOTT · 2010 to 2012
$1.1M
Characterizing Communicating Genetic Risk Alzheimer'sK24AG027841 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2006 to 2010
$914k
Returning research results in children: Parental Preferences and Expert OversightR01HG006615 · NHGRI · BOSTON CHILDREN'S HOSPITAL · PI HOLM, INGRID ADELE · 2011 to 2013
$361k
NCI NIH HHS CA154517NCI NIH HHS R01 CA154517NHGRI NIH HHS HG003170NHGRI NIH HHS HG003178NHGRI NIH HHS HG005092NHGRI NIH HHS HG00603NHGRI NIH HHS HG006500NHGRI NIH HHS HG006615NHGRI NIH HHS P50 HG003170NHGRI NIH HHS R01 HG003178NHGRI NIH HHS R01 HG005092NHGRI NIH HHS R01 HG006615NHGRI NIH HHS U01 HG006500NIA NIH HHS AG027841NIA NIH HHS K24 AG027841NIGMS NIH HHS GM007748NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Genomic sequencing is becoming accurate, fast, and inexpensive, and is rapidly being incorporated into clinical practice. Incidental findings, which result in large numbers from genomic sequencing, are a potential barrier to the utility of this new technology due to their high prevalence and the lack of evidence or guidelines available to guide their clinical interpretation. This unit reviews the definition, classification, and management of incidental findings from genomic sequencing. The unit focuses on the clinical aspects of handling incidental findings, with an emphasis on the key role of clinical context in defining incidental findings and determining their clinical relevance and utility.

Indexed as

Genome, HumanHigh-Throughput Nucleotide SequencingIncidental FindingsGenetic VariationHumans

Identifiers

PMID23595601
PMCPMC3763715

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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.