ArticleBMC medical genetics2014
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 59 papers.
What it found
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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.
Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
59 citing papers in PubMed.
- Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Trial
- The BabySeq project: implementing genomic sequencing in newborns.BMC pediatrics · 2018Trial
- How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.Journal of general internal medicine · 2018Trial
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of internal medicine · 2017Trial
- Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Contemporary clinical trials · 2017Trial
- Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.Human genomics · 2026Article
- Discriminating activating, deactivating and resistance variants in protein kinases.Genome medicine · 2025Article
- Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Critical assessment of missense variant effect predictors on disease-relevant variant data.Human genetics · 2025Article
- Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.NPJ genomic medicine · 2024Review
- [Genomic newborn screening-research approaches, challenges, and opportunities].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- 2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing.American journal of human genetics · 2023Article
- A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.Human genetics · 2022Article
- A personalized genomic results e-booklet, co-designed and pilot-tested by families.PEC innovation · 2022Article
- Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.European journal of medical genetics · 2022Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Development of a clinical polygenic risk score assay and reporting workflow.Nature medicine · 2022Article
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- The ethics of genomic medicine: redefining values and norms in the UK and France.European journal of human genetics : EJHG · 2021Article
- Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.BMC medical genomics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
backgroundThe MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical relevance to physicians and patients participating in the MedSeq Project, we sought to develop a reporting approach for the effective communication of such findings.
methodsGenome sequencing was performed on the Illumina HiSeq platform. Variants were filtered, interpreted, and validated according to methods developed by the Laboratory for Molecular Medicine and consistent with current professional guidelines. The GeneInsight software suite, which is integrated with the Partners HealthCare electronic health record, was used for variant curation, report drafting, and delivery.
resultsWe developed a concise 5-6 page Genome Report (GR) featuring a single-page summary of results of potential medical relevance with additional pages containing structured variant, gene, and disease information along with supporting evidence for reported variants and brief descriptions of associated diseases and clinical implications. The GR is formatted to provide a succinct summary of genomic findings, enabling physicians to take appropriate steps for disease diagnosis, prevention, and management in their patients.
conclusionsOur experience highlights important considerations for the reporting of results of potential medical relevance and provides a framework for interpretation and reporting practices in clinical genome sequencing.
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What OpenQuestion holds
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.