ArticleGenome research2012
Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Genetic variants in the CD59 gene: An exploratory study of large genome databases.Transfusion · 2025Article
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- How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.Journal of community genetics · 2024Article
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- Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.Frontiers in genetics · 2022Article
- A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways.BMC medical ethics · 2021Article
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.Journal of community genetics · 2021Article
- A survey of aortic disease biorepository participants' preferences for return of research genetic results.Journal of genetic counseling · 2021Article
- Why genomics researchers are sometimes morally required to hunt for secondary findings.BMC medical ethics · 2020Article
- A literature review at genome scale: improving clinical variant assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results.Journal of community genetics · 2018Article
- Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations.JCO precision oncology · 2018Article
- Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling.Journal of oncology practice · 2017Article
- Health professionals' opinions on supporting a cancer biobank: identification of barriers to combat biobanking pitfalls.European journal of human genetics : EJHG · 2016Review
- A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.BMC medical genomics · 2016Article
- Review
- Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.Translational vision science & technology · 2016Article
- Family decision maker perspectives on the return of genetic results in biobanking research.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.Journal of genetic counseling · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
There is an emerging consensus that when investigators obtain genomic data from research participants, they may incur an ethical responsibility to inform at-risk individuals about clinically significant variants discovered during the course of their research. With whole-exome sequencing becoming commonplace and the falling costs of full-genome sequencing, there will be an increasingly large number of variants identified in research participants that may be of sufficient clinical relevance to share. An explicit approach to triaging and communicating these results has yet to be developed, and even the magnitude of the task is uncertain. To develop an estimate of the number of variants that might qualify for disclosure, we apply recently published recommendations for the return of results to a defined and representative set of variants and then extrapolate these estimates to genome scale. We find that the total number of variants meeting the threshold for recommended disclosure ranges from 3955-12,579 (3.79%-12.06%, 95% CI) in the most conservative estimate to 6998-17,189 (6.69%-16.48%, 95% CI) in an estimate including variants with variable disease expressivity. Additionally, if the growth rate from the previous 4 yr continues, we estimate that the total number of disease-associated variants will grow 37% over the next 4 yr.
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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.