The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation

作者：Goudie Catherine; Coltin Hallie; Witkowski Leora; Mourad Stephanie; Malkin David; Foulkes William D^*

来源：Pediatric Blood and Cancer, 2017, 64(8): e26441.

DOI：10.1002/pbc.26441

• cancer genetics
• cancer predisposition syndrome
• familial cancer
• germline mutation
• pediatric

Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process.

• 出版日期2017-8
• 单位McGill