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Performance of the McGill interactive pediatric OncoGenetic guidelines for identifying cancer predisposition syndrome

JAMA Dec 22, 2021

Goudie C, Witkowski L, Cullinan N, et al. - Researchers evaluated the diagnostic accuracy of the McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) in differentiating children with cancer who have a low or high likelihood of having a cancer predisposition syndrome (CPS).

  • A multicenter diagnostic accuracy study of 1,071 pediatric (< 19 years of age) oncology patients who had a confirmed CPS (12 oncology referral centers) or who underwent germline DNA sequencing through precision medicine programs (6 centers).

  • In phase 1 of this study, 412 pediatric oncology patients had earlier identification of cancer predisposition syndromes using MIPOGG.

  • In phase 2, for pediatric-onset cancer predisposition syndromes in 658 different pediatric oncology patients (no patient overlap between phases), a favorable diagnostic accuracy profile was demonstrated by MIPOGG.

  • When compared with germline DNA sequencing through precision medicine programs, MIPOGG had a positive predictive value of 17.6% and a negative predictive value was 98.6%.

  • Overall findings support the possible utility of the MIPOGG electronic health tool in improving pediatric oncology care as it allows rapid cancer predisposition syndrome risk assessment and standardization of the recommendations for cancer predisposition syndrome evaluation in an easy and accessible manner.

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