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  • Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes

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Clinical guidelines
Original research
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes
  1. Robyn Hebert1,2,
  2. Noelle Cullinan3,4,
  3. Linlea Armstrong5,
  4. Katherine A Blood5,6,
  5. Josee Brossard7,
  6. Ledia Brunga8,
  7. Chantel Cacciotti9,
  8. Kimberly Caswell8,
  9. Sonia Cellot10,
  10. Hallie Coltin10,11,
  11. Rebecca J Deyell12,
  12. Kathleen Felton13,
  13. Conrad V Fernandez14,
  14. Adam J Fleming15,
  15. Paul Gibson15,
  16. Rawan Hammad4,16,
  17. Nada Jabado1,17,
  18. Donna L Johnston11,
  19. Lucie Lafay-Cousin18,
  20. Valérie Larouche19,
  21. Cassandra Leblanc-Desrochers20,
  22. Orli Michaeli4,21,
  23. Renee Perrier22,
  24. Meghan Pike14,
  25. Jemma Say23,
  26. Ian Schiller24,
  27. Annie-Kim Toupin25,
  28. Stéphanie Vairy7,10,
  29. Kalene van Engelen26,
  30. Nicolas Waespe4,27,
  31. Anita Villani4,
  32. William D Foulkes28,
  33. David Malkin4,
  34. Lara Reichman1,29,
  35. Catherine Goudie17,29
  1. 1 Department of Human Genetics, McGill University, Montreal, Québec, Canada
  2. 2 Genetic Counselling Services, Sudbury Regional Hospital, Sudbury, Ontario, Canada
  3. 3 Department of Paediatric Haematology-Oncology, Children's Health Ireland, Dublin, Ireland
  4. 4 Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
  5. 5 Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
  6. 6 Hereditary Cancer Program, BC Cancer Agency, Vancouver, British Columbia, Canada
  7. 7 Division of Pediatric Hematology-Oncology, Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Quebec, Canada
  8. 8 Department of Genetics and Genome Biology, University of Toronto, Toronto, Ontario, Canada
  9. 9 Department of Pediatric Hematology-Oncology, London Health Sciences Centre, London, Ontario, Canada
  10. 10 Charles-Bruneau Cancer Centre, Pediatric Hematology-Oncology Division, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montreal, Québec, Canada
  11. 11 Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  12. 12 Division of Pediatric Hematology/Oncology/BMT, BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada
  13. 13 Pediatric Hematology/Oncology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
  14. 14 Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada
  15. 15 Division of Pediatric Hematology/Oncology, McMaster Children's Hospital, Hamilton, Ontario, Canada
  16. 16 Department of Haematology, King Abdulaziz University, Jeddah, Makkah, Saudi Arabia
  17. 17 Division of Hematology-Oncology, Department of Pediatrics, McGill University Health Centre, Montreal, Québec, Canada
  18. 18 Section of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, Calgary, Alberta, Canada
  19. 19 Department of Pediatrics, Centre mère-enfant Soleil du CHU de Québec-Université Laval, Quebec City, Quebec, Canada
  20. 20 Centre de recherche du CHUS, Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Quebec, Canada
  21. 21 Division of Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
  22. 22 Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada
  23. 23 Paediatric Haematology/Oncology Programme, Bristol Royal Hospital for Children, Bristol, UK
  24. 24 Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada
  25. 25 Department of Medicine, University Laval, Québec, Québec, Canada
  26. 26 Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada
  27. 27 Pediatric Oncology and Hematology, University Children's Hospital Bern, University of Bern, Bern, Switzerland
  28. 28 Departments of Human Genetics, Oncology and Medicine, McGill University, Montreal, Quebec, Canada
  29. 29 Department of Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada
  1. Correspondence to Lara Reichman, Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3A 0C7; lara.reichman{at}muhc.mcgill.ca

Abstract

Background Cancer predisposition syndromes (CPSs) are responsible for at least 10% of cancer diagnoses in children and adolescents, most of which are not clinically recognised prior to cancer diagnosis. A variety of clinical screening guidelines are used in healthcare settings to help clinicians detect patients who have a higher likelihood of having a CPS. The McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) is an electronic health decision support tool that uses algorithms to help clinicians determine if a child/adolescent diagnosed with cancer should be referred to genetics for a CPS evaluation.

Methods This study assessed MIPOGG’s performance in identifying Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin (nevoid basal cell carcinoma) syndromes in a retrospective series of 84 children diagnosed with cancer and one of these four CPSs in Canadian hospitals over an 18-year period.

Results MIPOGG detected 82 of 83 (98.8%) evaluable patients with any one of these four genetic conditions and demonstrated an appropriate rationale for suggesting CPS evaluation. When compared with syndrome-specific clinical screening criteria, MIPOGG’s ability to correctly identify children with any of the four CPSs was equivalent to, or outperformed, existing clinical criteria respective to each CPS.

Conclusion This study adds evidence that MIPOGG is an appropriate tool for CPS screening in clinical practice. MIPOGG’s strength is that it starts with a specific cancer diagnosis and incorporates criteria relevant for associated CPSs, making MIPOGG a more universally accessible diagnostic adjunct that does not require in-depth knowledge of each CPS.

  • Pediatrics
  • Genetics
  • Clinical Decision-Making
  • Medical Oncology
  • Genetic Predisposition to Disease

Data availability statement

Data are available upon reasonable request.

https://doi.org/10.1136/jmg-2023-109376

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    Data availability statement

    Data are available upon reasonable request.

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    Footnotes

    • Contributors Study conception and design were the work of RH, LR and CG. Data collection was performed by all authors/the teams of all authors. Analysis was performed by RH, LR and CG. The draft of the manuscript was written by RH and LR, supervised by CG. All authors commented and edited subsequent versions of the manuscript. All authors read and approved the final manuscript. CG is responsible for the overall content of this manuscript (guarantor).

    • Funding No funding was received to assist with the preparation of this manuscript. CG's research is funded by the Canadian Institutes of Health Research (CIHR project grant no. 407997) and the Fonds de Recherche du Quebec-Santé (253761). The development of the MIPOGG platform was also made possible by the Cedars Cancer Foundation/Sarah’s Funds, the Montreal Children’s Hospital Foundation, the TD Ready Challenge, the Pediatric Oncology Group of Ontario (POGO Research Fellowship Award, 2017–2018), la Fondation Charles-Bruneau, the SickKids Foundation, the SickKids Garron Family Cancer Centre–Great Cycle Challenge, the Cancer Research Society (operating grant no. 23445) and the Cole Foundation. DM is supported by the CIBC Children’s Foundation Chair in Child Health Research. WDF is supported by the CIHR (FDN-148390). NW is supported by the CANSEARCH Research Foundation, Childhood Cancer Switzerland and Zoé4life, Switzerland, outside the submitted work.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.