Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic
In brief
A cancer-risk checklist increased genetic referrals in a neurofibromatosis clinic
After checklist implementation, ambiguous responses fell, more patients met criteria for constitutional mismatch repair deficiency evaluation, and genetic referrals were more frequent than before. However, meeting evaluation criteria did not correlate with referral in either study phase, so the checklist did not ensure follow-up. Children with a nondiagnostic neurofibromatosis type 1 workup who meet criteria still need further evaluation.
- Journal
- Journal of community genetics (Q2)
- Published
- 30 October 2026
- Study design
- Prospective / inception cohort
- Evidence level
- Level 2, Moderate (CEBM 2b)
- Authors
- Bridget McDonald, Jennifer Ivanovich, Leah Wetherill, Laurence Walsh, Jayne Vonbergen, Lisa Langsford, et al.
- PMID
- 42957923
- DOI
- 10.1007/s12687-026-00967-8
Why clinicians should know about it
- Picked for Genetics (clinical) (top studies of the week, 1 November 2026): Checklist improves recognition and referral for inherited cancer predisposition
Abstract
BACKGROUND: Children with constitutional mismatch repair deficiency (CMMRD) require early and intensive cancer surveillance. Due to phenotypic overlap between CMMRD and neurofibromatosis type 1 (NF1), some children with CMMRD receive an incorrect diagnosis of NF1 and are inappropriately managed for their cancer risk. This study evaluated the effectiveness of a clinical checklist in identifying individuals for whom CMMRD evaluation is recommended. PROCEDURE: Providers in a neurofibromatosis clinic implemented published CMMRD evaluation checklists into their clinical notes. Phase 1 of the study consisted of retrospective chart review prior to incorporation of the checklist. Phase 2 consisted of prospective chart review after checklist implementation. RESULTS: Phase 1 included 81 patients; Phase 2 included 60 patients. In Phase 2, ambiguous ("Unknown") checklist responses were reduced, and patients were more likely to meet criteria for CMMRD evaluation. Individuals in Phase 2 were more likely to be referred for genetic evaluation compared to Phase 1. There was no correlation between patients meeting criteria for CMMRD evaluation and being referred to genetics in either cohort. CONCLUSIONS: These results suggest a clinical CMMRD checklist is a useful tool for identifying individuals for whom CMMRD evaluation is recommended. Patients with a nondiagnostic NF1 workup who meet CMMRD evaluation criteria require further follow-up to aid in appropriate diagnosis and management.
Abstract as published, via PubMed.
For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.