ArticleEuropean journal of human genetics : EJHG2014
Managing clinically significant findings in research: the UK10K example.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 4 of them syntheses that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 4 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
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- 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
- Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.American journal of human genetics · 2019Article
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.BMC medical genomics · 2018Article
- Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.International journal of environmental research and public health · 2018Review
- Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.Nature communications · 2018Review
- The ethics conundrum in Recall by Genotype (RbG) research: Perspectives from birth cohort participants.PloS one · 2018Article
- Human genomics projects and precision medicine.Gene therapy · 2017Review
- A method for the allocation of sequencing resources in genotyped livestock populations.Genetics, selection, evolution : GSE · 2017Article
- Benchmarking distributed data warehouse solutions for storing genomic variant information.Database : the journal of biological databases and curation · 2017Article
- Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?Biopreservation and biobanking · 2016Article
- Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.Nature biotechnology · 2016Article
- Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.Translational vision science & technology · 2016Article
- Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.BMC bioinformatics · 2016Article
- Article
- Analysis of archived residual newborn screening blood spots after whole genome amplification.BMC genomics · 2015Article
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs.
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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.