An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor
| Autor: | William D. Foulkes, Anita Villani, Noelle Cullinan, Kalene van Engelen, Ronald Grant, Gino R. Somers, Lara Reichman, Rosanna Weksberg, Stephanie Mourad, David Malkin, Derek Stephens, Catherine Goudie |
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| Rok vydání: | 2019 |
| Předmět: |
Prioritization
Male Cancer Research medicine.medical_specialty Decision support system Canada Referral Adolescent Population Wilms Tumor 03 medical and health sciences 0302 clinical medicine Health care medicine eHealth Humans Genetic Testing education Child WT1 Proteins Referral and Consultation Retrospective Studies education.field_of_study business.industry Cancer predisposition Infant Wilms' tumor medicine.disease Decision Support Systems Clinical Kidney Neoplasms Telemedicine 3. Good health Oncology 030220 oncology & carcinogenesis Family medicine Child Preschool Practice Guidelines as Topic Female business Algorithms |
| Zdroj: | International journal of cancerReferences. 146(4) |
| ISSN: | 1097-0215 1997-2016 |
| Popis: | Over 10% of children with Wilms tumor (WT) have an underlying cancer predisposition syndrome (CPS). Cognizant of increasing demand for genetic evaluation and limited resources across health care settings, there is an urgent need to rationalize genetic referrals for this population. The McGill Interactive Pediatric OncoGenetic Guidelines study, a Canadian multi-institutional initiative, aims to develop an eHealth tool to assist physicians in identifying children at elevated risk of having a CPS. As part of this project, a decisional algorithm specific to WT consisting of five tumor-specific criteria (age 2 years, bilaterality/multifocality, stromal-predominant histology, nephrogenic rests, and overgrowth features) and universal criteria including features of family history suspicious for CPS and congenital anomalies, was developed. Application of the algorithm generates a binary recommendation-for or against genetic referral for CPS evaluation. To evaluate the algorithm's sensitivity for CPS identification, we retrospectively applied the tool in consecutive pediatric patients (n = 180) with WT, diagnosed and/or treated at The Hospital for Sick Children (1997-2016). Odds ratios were calculated to evaluate the strengths of associations between each criterion and specific CPS subtypes. Application of the algorithm identified 100% of children with WT and a confirmed CPS (n = 27). Age2 years, bilaterality/multifocality, and congenital anomalies were strongly associated with pathogenic variants in WT1. Presence of1 overgrowth feature was strongly associated with Beckwith-Wiedemann syndrome. Stromal-predominant histology did not contribute to CPS identification. We recommend the incorporation of the WT algorithm in the routine assessment of children with WT to facilitate prioritization of genetic referrals in a sustainable manner. |
| Databáze: | OpenAIRE |
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