[en] Cancer Predisposition Syndromes (CPS) are heritable genetic conditions associated with an increased risk of developing various cancers throughout life. While early identification and tumour surveillance can improve outcomes, CPS are often underdiagnosed in clinical practice. To evaluate clinicians' perspectives and identify barriers to CPS identification and care across Europe, we conducted the SCOPE study: a three-part cross-sectional survey of paediatric haematology/oncology professionals, followed by a modified Delphi consensus process with members of the SIOP Europe Host Genome Working Group. A total of 185 paediatric oncologists from 22 countries participated in the survey. More than 40% of participants reported low or uncertain confidence across different CPS-related tasks, particularly in counselling families (64.3%) and interpreting germline genetic findings (57.3%). Access to clinical geneticists and dedicated CPS clinics were predictors of higher confidence for some domains, while individual experience and institutional patient volume had limited influence. Regular use of universal CPS screening tools was low (42.3%), with most clinicians relying on personal judgement rather than structured criteria. The most cited barriers were lack of screening guidelines (57%) and difficulties in interpreting results (35.1%). Regular training and workshops, availability of genetic counsellors or educators for patient support, and patient-friendly education material were most cited as areas of improvement. The Delphi process led to three recommendations: (1) improve clinician training and communication strategies, (2) integrate CPS screening into standard treatment plans, and (3) develop accessible, patient-centred educational materials. These recommendations highlight opportunities to enhance CPS care through structured support, interdisciplinary collaboration, and systematic screening approaches.
Disciplines :
Pediatrics
Author, co-author :
Ćavar Pavić, Jakica ; Division of Paediatric Haematology and Oncology, Department of Paediatrics, University Children's Hospital Inselspital, Bern, Switzerland ; Graduate School for Cellular and Biomedical Sciences (GCB), University of Bern, Bern, Switzerland
Cullinan, Noelle ; Department of Paediatric Haematology-Oncology, Children's Health Ireland, Dublin, Ireland
Jongmans, Marjolijn; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Bourdeaut, Franck ; Université Paris Cité - INSERM U1330, Laboratory of Translational Research in Pediatric Oncology, SIREDO Paediatric Oncology Center, Institute Curie, Paris, France
Wadt, Karin; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark ; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
LoNigro, Luca; Center of Paediatric Haematology-Oncology, Azienda Policlinico-San Marco, Catania, Italy
Davies, Mark; Department of Genetics and Oncology, Cardiff University, Cardiff, UK
Michaeli, Orli; Department of Paediatric Haematology and Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel, Faculty of Medical & Health Sciences, Tel-Aviv University, Tel-Aviv, Israel
Strang-Karlsson, Sonja; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland ; Faculty of Medicine, University of Helsinki, Helsinki, Finland
de Putter, Robin ; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Cazzaniga, Giovanni; Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
Furtwängler, Rhoikos ; Division of Paediatric Haematology and Oncology, Department of Paediatrics, University Children's Hospital Inselspital, Bern, Switzerland ; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland
Zweier, Christiane ; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland ; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland
Rössler, Jochen; Division of Paediatric Haematology and Oncology, Department of Paediatrics, University Children's Hospital Inselspital, Bern, Switzerland
Waespe, Nicolas ; Division of Paediatric Haematology and Oncology, Department of Paediatrics, University Children's Hospital Inselspital, Bern, Switzerland. nicolas.waespe@unibe.ch ; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. nicolas.waespe@unibe.ch ; CANSEARCH research platform in paediatric oncology and haematology of the University of Geneva, Geneva, Switzerland. nicolas.waespe@unibe.ch
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