Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries

Secondary findings (SF) identified in massive parallel sequencing raise important clinical and healthcare related questions. To get an overview on current practices of European healthcare providers (HCP), we conducted a cross-sectional survey study among 39 stakeholders-predominantly senior medical and laboratory geneticists-from 15 European countries participating in the European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS). Respondents reported considerable heterogeneity in SF management and reporting, even within countries. While 31% of responding HCP return findings from all 81 genes on the American College of Medical Genetics and Genomics (ACMG) recommended SF list version 3.2, 41% restrict SF disclosure, often excluding genes associated with cardiological or metabolic disorders or with limited clinical actionability. A further 26% do not report ACMG-listed SF at all. Notably, 70% of HCP also assess additional cancer-predisposition genes beyond the ACMG list, using in-house gene lists or national guidelines. Most HCP restrict reporting to (likely) pathogenic variants (90%) and find SF in less than 5% of genetic analyses (59%). Consent procedures and patient information practices varied, with most HCP employing opt-in consent models and genetic counselling primarily delivered by medical geneticists and genetic counsellors. Major institutional challenges raised by participants, include lack of harmonised guidelines, concerns about patient anxiety, and insufficient resources for follow-up care. The findings of this study highlight the need for robust, evidence-based European guidelines to ensure clinically relevant and patient-centred SF management.

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Publication Details

Journal
European Journal of Human Genetics
Published
2026-03-03
DOI
https://doi.org/10.1038/s41431-026-02044-7
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
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article

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries

Katharina Wimmer, Simon Schnaiter, Armando Réis, Gunda Schwaninger et al.
European Journal of Human Genetics
BRCA gene mutations in cancer
article

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries

Katharina Wimmer, Simon Schnaiter, Armando Réis, Gunda Schwaninger, van Overeem Hansen T, Tiina Kahre, Tim Ripperger, Barbara Klink, Sabine Rudnik, Marina Macchiaiolo, Hilde Brems, Maria K. Haanpää, Philippe Theis, Fátima Vaz, Kathrin Taxer, Antonio PERCESEPE, Mateja Krajc, Milan Macek, Frederik Jan Hes, Pavel Tesner, Hildegunn Høberg Vetti, Arjen Mensenkamp, María Constanza Roa Bravo, ERN GENTURIS Study Group, Alessandra Renieri, Manuel R. Teixeira, Irma van de Beek, Johannes Zschocke, Karin Wadt, Lenka Foretova
article en

Abstract

Secondary findings (SF) identified in massive parallel sequencing raise important clinical and healthcare related questions. To get an overview on current practices of European healthcare providers (HCP), we conducted a cross-sectional survey study among 39 stakeholders-predominantly senior medical and laboratory geneticists-from 15 European countries participating in the European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS). Respondents reported considerable heterogeneity in SF management and reporting, even within countries. While 31% of responding HCP return findings from all 81 genes on the American College of Medical Genetics and Genomics (ACMG) recommended SF list version 3.2, 41% restrict SF disclosure, often excluding genes associated with cardiological or metabolic disorders or with limited clinical actionability. A further 26% do not report ACMG-listed SF at all. Notably, 70% of HCP also assess additional cancer-predisposition genes beyond the ACMG list, using in-house gene lists or national guidelines. Most HCP restrict reporting to (likely) pathogenic variants (90%) and find SF in less than 5% of genetic analyses (59%). Consent procedures and patient information practices varied, with most HCP employing opt-in consent models and genetic counselling primarily delivered by medical geneticists and genetic counsellors. Major institutional challenges raised by participants, include lack of harmonised guidelines, concerns about patient anxiety, and insufficient resources for follow-up care. The findings of this study highlight the need for robust, evidence-based European guidelines to ensure clinically relevant and patient-centred SF management.

European Journal of Human Genetics
University of Siena (IT), University of Copenhagen (DK), University of Parma (IT), Karolinska University Hospital (SE), Vrije Universiteit Brussel (BE), Innsbruck Medical University (AT), Radboud University Nijmegen (NL), Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), Charles University (CZ), Haukeland University Hospital (NO), Ghent University Hospital (BE), Turku University Hospital (FI), Tartu University Hospital (EE), Copenhagen University Hospital (DK), Rigshospitalet (DK), Radboud University Medical Center (NL), The Netherlands Cancer Institute (NL), Institute of Oncology Ljubljana (SI), Medizinische Hochschule Hannover (DE), Universitätsklinikum Erlangen (DE), Instituto Português de Oncologia Francisco Gentil (PT), IPO Porto (PT), Masaryk Memorial Cancer Institute (CZ), Medical Genetics Center (DE), Bambino Gesù Children's Hospital (IT), Universitair Ziekenhuis Brussel (BE), Laboratoire National de Santé (LU), University Hospital Carl Gustav Carus (DE), University of Tartu (EE), Technische Universität Dresden (DE), KU Leuven (BE)
European Commission, Medizinische Universität Innsbruck, Universität Innsbruck
Partnerships for the goals
Openalex Percentile: Top 36%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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