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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月3日

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  • Kathrin Taxer,
  • Katharina Wimmer,
  • Karin Wadt,
  • Simon Schnaiter,
  • Sabine Rudnik,
  • Johannes Zschocke,
  • Svetlana Bajalica-Lagercrantz,
  • Irma van de Beek,
  • Hilde Brems,
  • Robin de Putter,
  • Lenka Foretova,
  • Maria K. Haanpää,
  • Frederik J. Hes,
  • Tiina Kahre,
  • Barbara Klink,
  • Mateja Krajc,
  • Marina Macchiaiolo,
  • Milan Macek,
  • Arjen Mensenkamp,
  • Antonio Percesepe,
  • André Reis,
  • Alessandra Renieri,
  • Tim Ripperger,
  • María Constanza Roa Bravo,
  • Manuel R. Teixeira,
  • Pavel Tesner,
  • Philippe Theis,
  • Thomas van Overeem Hansen,
  • Fatima Vaz,
  • Hildegunn Høberg Vetti,
  • Gunda Schwaninger

摘要

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.