Hereditary cancer: Germline testing practices across ERN GENTURIS member countries

Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Norway to assess multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, implementation of polygenic risk scores, and the roles of non-genetic healthcare professionals. National experts and members of the ERN GENTURIS completed a structured questionnaire covering founder germline pathogenic variants (gPV) testing, panel testing for common genetic tumour risk syndromes, use of whole-exome sequencing (WES) and whole-genome sequencing, polygenic risk score implementation, use of formalin-fixed paraffin-embedded tumour samples, laboratory accreditation, and the clinical roles of physicians, genetic counselors and nurses. Significant inter-country heterogeneity was observed. Most countries rely on next-generation sequencing (NGS) multi-gene panels. Founder gPV testing is first-line in a few high-prevalence populations (e.g., BRCA1/2 founders). All 21 countries offer NGS panel tests for hereditary breast and ovarian cancer, and ≥19 countries do so for colorectal and prostate cancers. However, NGS panel size and gene composition exhibit substantial variability. WES is available in 12 countries on a routine basis. Most countries implemented genetic testing on stored tumour tissue from deceased patients. In all countries, clinical geneticists can order germline genetic tests, and in 9 countries, any physician can do so. These findings show differences in accessibility to germline genetic testing of hereditary cancer in Europe. We propose EU-wide guidance via pathways, standards of care, and sharing of best practices to further optimize access to hereditary cancer genetic molecular diagnostics.

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Publication Details

Journal
European Journal of Human Genetics
Published
2026-06-09
DOI
https://doi.org/10.1038/s41431-026-02132-8
Primary Topic
BRCA gene mutations in cancer
Type
article
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article

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries

Katharina Wimmer, Claude Houdayer, Ana Blatnik, Emma Tham et al.
European Journal of Human Genetics
BRCA gene mutations in cancer
article

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries

Katharina Wimmer, Claude Houdayer, Ana Blatnik, Emma Tham, Tiina Kahre, Jan Lubiński, Zanda Daneberga, Barbara Klink, Mikk Tooming, Robin De Putter, Elke Holinski‐Feder, Maria K. Haanpää, Ignacio Blanco Guillermo, Katarzyna Urbańczyk, Milena Kiljańczyk, Hildegunn Høberg-Vetti, Minna Pöyhönen, Béla Melegh, Tamara Milagre, Nicoline Hoogerbrugge, Antonis Kattamis, Karin Wadt, Lenka Foretova
article en

Abstract

Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Norway to assess multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, implementation of polygenic risk scores, and the roles of non-genetic healthcare professionals. National experts and members of the ERN GENTURIS completed a structured questionnaire covering founder germline pathogenic variants (gPV) testing, panel testing for common genetic tumour risk syndromes, use of whole-exome sequencing (WES) and whole-genome sequencing, polygenic risk score implementation, use of formalin-fixed paraffin-embedded tumour samples, laboratory accreditation, and the clinical roles of physicians, genetic counselors and nurses. Significant inter-country heterogeneity was observed. Most countries rely on next-generation sequencing (NGS) multi-gene panels. Founder gPV testing is first-line in a few high-prevalence populations (e.g., BRCA1/2 founders). All 21 countries offer NGS panel tests for hereditary breast and ovarian cancer, and ≥19 countries do so for colorectal and prostate cancers. However, NGS panel size and gene composition exhibit substantial variability. WES is available in 12 countries on a routine basis. Most countries implemented genetic testing on stored tumour tissue from deceased patients. In all countries, clinical geneticists can order germline genetic tests, and in 9 countries, any physician can do so. These findings show differences in accessibility to germline genetic testing of hereditary cancer in Europe. We propose EU-wide guidance via pathways, standards of care, and sharing of best practices to further optimize access to hereditary cancer genetic molecular diagnostics.

European Journal of Human Genetics
University of Copenhagen (DK), Karolinska University Hospital (SE), University of Helsinki (FI), Innsbruck Medical University (AT), Radboud University Nijmegen (NL), Inserm (FR), Universität Innsbruck (AT), National and Kapodistrian University of Athens (GR), Helsinki University Hospital (FI), 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), Karolinska Institutet (SE), Institute of Oncology Ljubljana (SI), VID Specialized University (NO), Normandie Université (FR), Masaryk Memorial Cancer Institute (CZ), Medical Genetics Center (DE), Children's Hospital Agia Sophia (GR), Tumour Institute of Tuscany (IT), Riga Stradiņš University (LV), Hospital Universitari Germans Trias i Pujol (ES), International Hereditary Cancer Center (PL), University of Tartu (EE), Université de Rouen Normandie (FR), University of Pecs (HU), Pomeranian Medical University (PL), Ludwig-Maximilians-Universität München (DE)
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BRCA gene mutations in cancer
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