ArticleEuropean journal of human genetics : EJHG2018
Points to consider for laboratories reporting results from diagnostic genomic sequencing.
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 46 papers, 3 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 3 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
- How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.Clinical genetics · 2021Pooled it
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students.PloS one · 2026Article
- A random forest-based predictive model for classifying BRCA1 missense variants: a novel approach for evaluating the missense mutations effect.Journal of human genetics · 2025Article
- Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.European journal of human genetics : EJHG · 2025Review
- Navigating an Uninformative Genomic Test Result: A Practical Guide.Journal of paediatrics and child health · 2025Review
- Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results.Frontiers in genetics · 2025Article
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Brain : a journal of neurology · 2024Observational
- 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
- Ethics of artificial intelligence in prenatal and pediatric genomic medicine.Journal of community genetics · 2024Article
- Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.Blood advances · 2023Article
- The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.Communications medicine · 2023Article
- A practical checklist for return of results from genomic research in the European context.European journal of human genetics : EJHG · 2023Article
- Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history.Forensic science international. Synergy · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome medicine · 2022Article
- Cancer patients' understandings of genetic variants of uncertain significance in clinical care.Journal of community genetics · 2022Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Moving from 'fully' to 'appropriately' informed consent in genomics: The PROMICE framework.Bioethics · 2022Article
Corrections and comments
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Authors and funding
11 authors.
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Abstract
Although NGS technologies are well-embedded in the clinical setting for identification of genetic causes of disease, guidelines issued by professional bodies are inconsistent regarding some aspects of reporting results. Most recommendations do not give detailed guidance about whether variants of uncertain significance (VUS) should be reported by laboratory personnel to clinicians, and give conflicting messages regarding whether unsolicited findings (UF) should be reported. There are also differences both in their recommendations regarding whether actively searching for secondary findings (SF) is appropriate, and in the extent to which they address the duty (or lack thereof) to reanalyse variants when new information arises. An interdisciplinary working group considered the current guidelines, their own experiences, and data from a recent qualitative study to develop a set of points to consider for laboratories reporting results from diagnostic NGS. These points to consider fall under six categories: (i) Testing approaches and technologies used, (ii) Approaches for VUS; (iii) Approaches for reporting UF, (iv) Approaches regarding SF; (v) Reanalysis of data & re-contact; and vi) Minors. While it is unclear whether uniformity in reporting across all laboratories is desirable, we hope these points to consider will be useful to diagnostic laboratories as they develop their processes for making decisions about reporting VUS and UF from NGS in the diagnostic context.
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