Evidence map›Paper›PMID 23643378›Full record

ArticleAmerican journal of human genetics2013

Incidental variants are critical for genomics.

Leslie G Biesecker

Abstract read
In one paragraph

Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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.

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

19 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  5. Article
  6. Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  7. Informed Consent in Translational Genomics: Insufficient Without Trustworthy Governance.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2018
    Article
  8. Article
  9. Article
  10. Recommendations for the integration of genomics into clinical practice.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Review
  11. Article
  12. Article
  13. Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2015
    Article
  14. Article
  15. The translational potential of research on the ethical, legal, and social implications of genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Review
  16. Article
  17. Article
  18. Article
  19. 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

1 author.

Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. leslieb@helix.nih.gov

Funding

Genomic Ascertainment - Molecular and Genetic AspectsZIAHG200359 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2009 to 2025
$19.7M
Genomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5M
Intramural NIH HHS
6 · The paper itself

Abstract

The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.

Indexed as

Genetic VariationIncidental FindingsDisclosureGenetics, MedicalGenetic TestingGenomicsHumans

Identifiers

PMID23643378
PMCPMC3644628

What OpenQuestion holds

Textmetadata
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.