Journal: European journal of human genetics : EJHG
This publication reports the SCOPE study, a three-part cross-sectional survey and Delphi consensus process focused on cancer predisposition syndromes (CPS) in paediatric oncology across Europe.
Key design points:
- Participants: 185 paediatric haematology/oncology professionals from 22 European countries.
- Methods:
- Survey of clinicians’ confidence, practices, and perceived barriers regarding CPS identification and management.
- Modified Delphi process with SIOP Europe Host Genome Working Group members to formulate consensus recommendations.
Major findings:
- Confidence gaps:
- Over 40% of clinicians reported low or uncertain confidence in multiple CPS-related tasks.
- Confidence was particularly low for:
- Counselling families about CPS (64.3% low/uncertain).
- Interpreting germline genetic findings (57.3% low/uncertain).
- Determinants of confidence:
- Better access to clinical geneticists and dedicated CPS clinics was associated with higher confidence.
- Individual experience and institutional patient volume had limited impact.
- Screening practices:
- Regular use of universal CPS screening tools was uncommon (42.3%).
- Most clinicians relied on individual clinical judgement rather than structured criteria.
- Perceived barriers:
- Lack of clear CPS screening guidelines (57%).
- Difficulty interpreting genetic test results (35.1%).
Identified needs:
- More regular CPS-focused training and workshops for clinicians.
- Availability of genetic counsellors or dedicated educators to support patients and families.
- Patient-friendly, accessible educational materials on CPS.
Consensus recommendations from the Delphi process:
- Enhance clinician training and communication skills specific to CPS.
- Integrate CPS screening systematically into standard paediatric oncology treatment pathways.
- Develop and disseminate accessible, patient-centred educational resources on CPS.
Overall, the study underscores substantial unmet needs in CPS recognition and management in paediatric oncology and provides clear, consensus-based priorities to improve practice through structured screening, specialist support, and better education.