ArticleEuropean journal of human genetics : EJHG2018
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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.
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Who cites it
41 citing papers in PubMed, 69 citations in OpenAlex.
- Automated reanalysis of genomic data for rare disease diagnostics at scale.Nature medicine · 2026Article
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Consent for genomic sequencing: a conversation, not just a form.European journal of human genetics : EJHG · 2025Article
- Advances in DNA/RNA Sequencing and Their Applications in Acute Myeloid Leukemia (AML).International journal of molecular sciences · 2024Review
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.Clinical epigenetics · 2024Article
- Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.European journal of human genetics : EJHG · 2024Article
- The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.Journal of bioethical inquiry · 2024Article
- Article
- Whole genome sequencing in clinical practice.BMC medical genomics · 2024Review
- A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.PNAS nexus · 2023Article
- Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.Frontiers in cardiovascular medicine · 2023Review
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
- Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.Human genetics · 2022Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Recontacting in medical genetics: the implications of a broadening knowledge base.Human genetics · 2022Review
- Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.Orphanet journal of rare diseases · 2022Article
- Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- The QChip1 knowledgebase and microarray for precision medicine in Qatar.NPJ genomic medicine · 2022Article
- Assessing the pathogenicity ofFrontiers in oncology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.
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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.