[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-352155-105":59,"doc-detail-352155-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","hereditary-cancer-germline-testing-practices-across-ern-genturis-member-countries","Hereditary cancer: Germline testing practices across ERN GENTURIS member countries","","Germline genetic testing practices for hereditary cancer vary across European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. A survey of experts in 20 EU countries and Norway assessed multi-gene panel usage, access to genome-wide sequencing, first-tier testing approaches, polygenic risk score implementation, and involvement of non-genetic healthcare professionals. Inter-country heterogeneity was observed. Most countries use NGS multi-gene panels, with limited routine whole-exome sequencing, and variable panel size, gene composition, and referral pathways. Findings highlight uneven access and support EU-wide guidance via pathways and shared best practices.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/hereditary-cancer-germline-testing-practices-across-ern-genturis-member-countries/352155/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/hereditary-cancer-germline-testing-practices-across-ern-genturis-member-countries/352155.png","ImageObject",300,407,{"name":92,"@type":93},"CatatanPagi","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-23","2026-09-22",true,{"@type":102,"interactionType":103,"userInteractionCount":29},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What was surveyed about germline testing in ERN GENTURIS member countries?","Question",{"text":112,"@type":113},"Experts were surveyed on multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, polygenic risk score implementation, and roles of non-genetic healthcare professionals.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How do countries differ in sequencing and panel practices?",{"text":117,"@type":113},"Most countries rely on NGS multi-gene panels, but panel size and gene composition vary substantially. Whole-exome sequencing is available routinely in 12 countries.",{"name":119,"@type":110,"acceptedAnswer":120},"Which testing access and ordering pathways were reported?",{"text":121,"@type":113},"In all countries, clinical geneticists can order germline genetic tests, while in 9 countries any physician can do so. Most countries implemented testing on stored tumor tissue from deceased patients.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},352155,1790563073,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":29,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":44,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144},962090894170,"https://ap-avatar.wpscdn.com/davatar_6f874abed73319feea01a86fa6f0fab8","[www.nature.com/ejhg](www.nature.com/ejhg)  \nARTICLE OPEN   \nHereditary cancer: Germline testing practices across ERN GENTURIS member countries  \nMilena Kiljańczyk1,2, Zanda Daneberga 2,3, Mikk Tooming2,4,5, Katarzyna Urbańczyk2,6, Minna Pöyhönen2,7, Tiina Kahre 2,4,5,  \nLenka Foretova2,8, Emma Tham2,9,10, Tamara Milagre2,11, Béla Melegh2,12, Maria K. Haanpää2,7,13, Ana Blatnik2,14, Katharina Wimmer 2,15, Robin de Putter 2,16, Karin Wadt2,17,18, Claude Houdayer 2,19, Elke Holinski-Feder 2,20,21, Antonis Kattamis2,22, Barbara Klink 2,20, Hildegunn Høberg-Vetti 2,23,24, Ignacio Blanco Guillermo 2,25,  \nNicoline Hoogerbrugge 2,6 and Jan Lubiński1,2 ✉  \n© The Author(s) 2026  \n\n|  | 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 nextgeneration 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 inaccessibility to germline genetic testing of hereditary cancer in Europe. We propose EU-wide guidance via pathways, standards of |  |\n| --- | --- | --- |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n| care, and sharing of best practices to further optimize access to hereditary cancer genetic molecular diagnostics. |  |  |\n|  | European Journal of Human Genetics (2026) 34:1273–1281; [https://doi.org/10.1038/s41431-026-02132-8](https://doi.org/10.1038/s41431-026-02132-8) |  |\n|  |  |  |\n\nINTRODUCTION  \nGermline pathogenic variants (gPV) in cancer predisposition genes (such as BRCA1, BRCA2, MLH1, MSH2, etc.) are causative for various genetic tumour risk syndromes, which not only confer high risks of cancer development, but also make cancer risk reduction possible in relatives, and lead to optimized cancer treatment options for the patient. With the advances of next-generation sequencing (NGS), genetic testing for hereditary breast, ovarian, colorectal,  \nprostate, and other genetic tumour risk syndromes have become increasingly common. However, genetic testing practices are not yet uniform across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) members, reflecting differences in population genetics, healthcare infrastructure, and national guidelines. Recent analyses of genetic testing practices across Europe, including the ESMO study by Bayle et al. [1], have demonstrated substantial between-country inequalities in the  \n1International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical Universi","cbCaisJDQGLgW08j","https://ap.wps.com/l/cbCaisJDQGLgW08j","pdf",1232594,"English","# Introduction\n## Survey scope and methods\n## Testing approaches and sequencing availability\n## Founder testing and tumor-sample implementation\n## Ordering pathways and inter-country heterogeneity\n## Proposed EU-wide guidance","[{\"question\":\"What was surveyed about germline testing in ERN GENTURIS member countries?\",\"answer\":\"Experts were surveyed on multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, polygenic risk score implementation, and roles of non-genetic healthcare professionals.\"},{\"question\":\"How do countries differ in sequencing and panel practices?\",\"answer\":\"Most countries rely on NGS multi-gene panels, but panel size and gene composition vary substantially. Whole-exome sequencing is available routinely in 12 countries.\"},{\"question\":\"Which testing access and ordering pathways were reported?\",\"answer\":\"In all countries, clinical geneticists can order germline genetic tests, while in 9 countries any physician can do so. Most countries implemented testing on stored tumor tissue from deceased patients.\"}]","Hereditary cancer: Germline testing practices across ERN GENTURIS member countries | PDF",1790097984,23]