ArticleEuropean journal of human genetics : EJHG2021
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 3 of them syntheses that pooled it.
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Who cites it
92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- 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
- Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis.BMC medical informatics and decision making · 2023Pooled it
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol: A Randomized Clinical Trial.JAMA network open · 2026Trial
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.European journal of human genetics : EJHG · 2026Article
- Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.Journal of genetic counseling · 2026Article
- Towards responsible genome-wide screening: normative and stakeholder considerations.European journal of human genetics : EJHG · 2026Article
- STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.European journal of medical genetics · 2026Article
- What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis.European journal of human genetics : EJHG · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Article
- From targeted to genome-wide DNA testing in public health screening programs-an introduction to the special issue of the European Journal of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Severity as a Criterion for Prioritizing Diagnostic Measures.Health care analysis : HCA : journal of health philosophy and policy · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Tumor risks and surveillance outcomes inEndocrine oncology (Bristol, England) · 2026Article
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Global Perspectives on Managing Incidental and Secondary Findings in Genomic Testing: A Comprehensive Review of Policies, Implementation Challenges, and Stakeholder Perspectives.Annals of laboratory medicine · 2026Review
- Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis.BMC medical genomics · 2025Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 16 institutions in 11 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.
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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.