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

Hebert, Robyn; Cullinan, Noelle; Armstrong, Linlea; Blood, Katherine A; Brossard, Josee; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Coltin, Hallie; Deyell, Rebecca J; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Gibson, Paul; Hammad, Rawan; Jabado, Nada; Johnston, Donna L; Lafay-Cousin, Lucie; Larouche, Valérie; ... (2023). Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes. Journal of medical genetics, 60(12), pp. 1218-1223. BMJ Publishing Group 10.1136/jmg-2023-109376

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Haematology/Oncology
UniBE Contributor:	Waespe Laredo, Nicolas Thomas
Subjects:	600 Technology > 610 Medicine & health
ISSN:	0022-2593
Publisher:	BMJ Publishing Group
Language:	English
Submitter:	Pubmed Import
Date Deposited:	18 Jul 2023 11:13
Last Modified:	08 Jan 2024 15:58
Publisher DOI:	10.1136/jmg-2023-109376
PubMed ID:	37460202
Uncontrolled Keywords:	Clinical Decision-Making Genetic Predisposition to Disease Genetics Medical Oncology Pediatrics
URI:	https://boris.unibe.ch/id/eprint/184911