Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology

Jasmine Knoll, Ashley Li, Christy H. Smith, Kristin E. Schratz, Stacy Cooper, Tarek Meah, Elizabeth Helmke, Christine Pratilas, Joann N Bodurtha

Research output: Contribution to journalArticlepeer-review


Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals of at-risk patients. Retrospective chart review was followed by educational intervention - with impact assessed over a 9-month prospective chart review. Referral rate improved >2-fold and there was an improvement in documented oncologic history to at least a third-degree relative. The integration of quality improvement can be an effective tool to improve the referral of patients with an elevated risk for a cancer predisposition syndrome.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
StateAccepted/In press - 2021


  • cancer predisposition syndromes
  • family history
  • germline testing
  • oncologic genetics
  • quality improvement

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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