ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed.
- Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results.Frontiers in genetics · 2025Article
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Article
- The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.Journal of bioethical inquiry · 2024Article
- The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.PloS one · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- Equity implications of patient-initiated recontact and follow-up in clinical genetics.European journal of human genetics : EJHG · 2023Article
- Application of next generation sequencing in cardiology: current and future precision medicine implications.Frontiers in cardiovascular medicine · 2023Review
- Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Cardiovascular Genetics: The Role of Genetics in Predicting Risk.The Medical clinics of North America · 2022Review
- Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.Journal of community genetics · 2021Article
- Article
- Case Report:Frontiers in cardiovascular medicine · 2021Article
- GENETIC DUTIES.William and Mary law review · 2020Article
- Patient perspectives on variant reclassification after cancer susceptibility testing.Molecular genetics & genomic medicine · 2020Article
- Is there a duty to reinterpret genetic data? The ethical dimensions.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.PloS one · 2020Article
- A pediatric perspective on genomics and prevention in the twenty-first century.Pediatric research · 2020Review
- Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.BMC medical genomics · 2019Article
- Variant classification changes over time in BRCA1 and BRCA2.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeThe advent of next-generation sequencing resulted in substantial increases in the number of variants detected, interpreted, and reported by molecular genetics diagnostic laboratories. Recent publications have provided standards for the interpretation of sequence variants, but there are currently no standards regarding reinterpretation of these variants. Recognizing that significant changes in variant classification may occur over time, many genetics diagnostic laboratories have independently developed practices for variant reinterpretation. The purpose of this study is to describe our laboratory approach to variant reinterpretation.MethodsWe surveyed eight genetics diagnostic laboratories in Canada and the United States.ResultsEach laboratory had differing protocols, but most felt that clinically relevant changes to variant classifications should be communicated to ordering providers. Based on results of this survey and our experience, we developed a cost-effective and resource-efficient approach to variant reinterpretation.ConclusionOngoing variant reinterpretation is required to maintain the highest standards for delivering genetics laboratory services. Our approach to variant reinterpretation offers an efficient solution that does not compromise accuracy or timely delivery of genetics laboratory services.
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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.