Evidence map›Paper›PMID 26566463›Full record

ReviewCurrent genetic medicine reports

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.

Myra I Roche, Jonathan S Berg

Registry-linked trialAbstract readReview
In one paragraph

Review in Current genetic medicine reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03548779 (North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2), which is not on this map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 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.

NCT03548779 nacompletednot on this map

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

TypeinterventionalSponsorUniversity of North Carolina, Chapel HillRan2018 to 2024Enrolled548ConditionsEpilepsy, Seizure, Neuromuscular Diseases, Brain MalformationArmsPre-visit prep, usual care + exome seq
3 · Its place in the literature

Who cites it

38 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Trial
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Evaluating the resource implications of different service delivery models for offering additional genomic findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  12. Article
  13. Parents' perceptions of personal utility of exome sequencing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
    Article
  14. Article
  15. Biomarker-guided trials: Challenges in practice.Contemporary clinical trials communications · 2019
    Article
  16. Article
  17. Article
  18. Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.Annals of oncology : official journal of the European Society for Medical Oncology · 2019
    Article
  19. Review
  20. Psychological adaptation to diagnostic genomic sequencing results: The role of hope fulfillment.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2019
    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.

Myra I RocheDepartment of Pediatrics and Genetics, School of Medicine, The University of North Carolina at Chapel Hill, 326A MacNider, Chapel Hill, NC 27599-7240 USA.
Jonathan S BergDepartment of Genetics, The University of North Carolina at Chapel Hill, 120 Mason Farm Road, Chapel Hill, NC 27599-7264 USA.

Funding

North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
NC NEXUS, North Carolina Newborn Exome Sequencing for Universal ScreeningU19HD077632 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, CYNTHIA MARION · 2013 to 2018
$6.3M
NHGRI NIH HHS U01 HG006487NICHD NIH HHS U19 HD077632
6 · The paper itself

Abstract

This paper summarizes the current controversies surrounding the identification and disclosure of "incidental" or "secondary" findings from genomic sequencing and the implications for genetic counseling practice. The rapid expansion of clinical sequencing has influenced the ascertainment and return of incidental findings, while empiric data to inform best practices are still being generated. Using the North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) research project as an example, we discuss the implications of different models of consent and their impact on patient decisions.

Indexed as

Clinical sequencingGenetic counselingIncidental findingsInformed consentMedical actionabilitySecondary findings

Identifiers

PMID26566463
PMCPMC4633435

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.