ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline 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
- Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.Contemporary clinical trials · 2019Trial
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Automated reanalysis of genomic data for rare disease diagnostics at scale.Nature medicine · 2026Article
- Toward a Genomics-Driven Hepatology: Liver Biology, Precision Diagnosis, and the Rise in Genetic Therapies.Pharmaceutics · 2026Review
- Population Screening for Hereditary Haemochromatosis-Should It Be Carried Out, and If So, How?Genes · 2024Article
- Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.Human genetics · 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
- Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.Learning health systems · 2023Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.Molecular genetics & genomic medicine · 2023Article
- Article
- Genomic medicine for liver disease.Hepatology (Baltimore, Md.) · 2022Review
- Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ genomic medicine · 2022Review
- Article
- Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.Annals of medicine · 2021Article
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- NEMHESYS-European Perspective on the Implementation of Next-generation Sequencing Into Clinical Diagnostics.HemaSphere · 2021Article
- Analysis of laboratory reporting practices using a quality assessment of a virtual patient.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
Corrections and comments
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Authors and funding
38 authors.
Funding
Abstract
purposeWhile the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization.
methodsSurveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services. The 73-item survey elicited multiple choice and free-text responses that were later clarified with phone interviews.
resultsTwenty-one laboratories participated. Practices highly concordant across all groups included consent documentation, multiperson case review, and enabling patient opt-out of incidental or secondary findings analysis. Noted divergence included use of phenotypic data to inform case analysis and interpretation and reporting of case-specific quality metrics and methods. Few laboratory policies detailed procedures for data reanalysis, data sharing, or patient access to data.
conclusionThis study provides an overview of practices and policies of experienced exome and genome sequencing laboratories. The results enable broader consideration of which practices are becoming standard approaches, where divergence remains, and areas of development in best practice guidelines that may be helpful.Genet Med advance online publication 03 Novemeber 2016.
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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.