ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT01736566 (The MedSeq Project Pilot Study), which is not on this map. Cited by 82 papers, 2 of them syntheses 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.
The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine
Who cites it
82 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.Contemporary clinical trials · 2019Trial
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.Contemporary clinical trials · 2014Trial
- Reciprocity in research: Participant views on return of results in the WATCH-PD qualitative study.Journal of Parkinson's disease · 2026Article
- Multi-omics in Allergic Rhinitis: Mechanism Dissection and Precision Medicine.Clinical reviews in allergy & immunology · 2025Review
- Article
- COLLAGENE enables privacy-aware federated and collaborative genomic data analysis.Genome biology · 2023Article
- Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.American journal of human genetics · 2021Article
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.Journal of community genetics · 2021Article
- Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.Journal of personalized medicine · 2021Article
- Participant choices for return of genomic results in the eMERGE Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- Patients' views on variants of uncertain significance across indications.Journal of community genetics · 2020Review
- From Genetics to Genomics: Facing the Liability Implications in Clinical Care.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study.BMC medical ethics · 2020Article
- Ethics and Collateral Findings in Pragmatic Clinical Trials.The American journal of bioethics : AJOB · 2020Article
- Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.Journal of genetic counseling · 2019Article
- Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?Annals of internal medicine · 2019Article
- Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.BMC medical genomics · 2019Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
18 authors.
Funding
Abstract
As genomic and exomic testing expands in both the research and clinical arenas, determining whether, how, and which incidental findings to return to the ordering clinician and patient becomes increasingly important. Although opinion is varied on what should be returned to consenting patients or research participants, most experts agree that return of medically actionable results should be considered. There is insufficient evidence to fully inform evidence-based clinical practice guidelines regarding return of results from genome-scale sequencing, and thus generation of such evidence is imperative, given the rapidity with which genome-scale diagnostic tests are being incorporated into clinical care. We present an overview of the approaches to incidental findings by members of the Clinical Sequencing Exploratory Research network, funded by the National Human Genome Research Institute, to generate discussion of these approaches by the clinical genomics community. We also report specific lists of "medically actionable" genes that have been generated by a subset of investigators in order to explore what types of findings have been included or excluded in various contexts. A discussion of the general principles regarding reporting of novel variants, challenging cases (genes for which consensus was difficult to achieve across Clinical Sequencing Exploratory Research network sites), solicitation of preferences from participants regarding return of incidental findings, and the timing and context of return of incidental findings are provided.Genet Med 15 11, 860-867.Genetics in Medicine (2013); 15 11, 860-867. doi:10.1038/gim.2013.133.
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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.