Development of an Electronic Health Record-Based Clinical Decision Support Tool for Patients With Lynch Syndrome.

PURPOSE: To develop an electronic health record (EHR)-based clinical decision support (CDS) tool to promote guideline-recommended cancer risk management among patients with Lynch syndrome (LS), an inherited cancer syndrome that confers an increased risk of colorectal and other cancer types. MATERIALS AND METHODS: We conducted a cross-sectional study to determine the baseline prevalence and predictors of guideline-recommended colonic surveillance and annual genetics program visits among patients with LS. Multivariable log-binomial regressions estimated prevalence ratios (PRs) of cancer risk management adherence by baseline sociodemographic and clinical characteristics. These analyses provided rationale for the development of an EHR-based CDS tool to support patients and clinicians with LS-related endoscopic surveillance and annual genetics program visits. The CDS leverages an EHR platform linking discrete genetic data to LS Genomic Indicators, in turn driving downstream clinician- and patient-facing CDS. RESULTS: Among 323 patients with LS, cross-sectional adherence to colonic surveillance and annual genetics program visits was 69.3% and 55.4%, respectively. Patients with recent electronic patient portal use were more likely to be adherent to colonic surveillance (PR, 1.67; 95% CI, 1.11 to 2.52). Patients more recently diagnosed with LS were more likely to be adherent to annual genetics program visits (PR, 0.58; 95% CI, 0.44 to 0.76 for 2-4 years; PR, 0.62; 95% CI, 0.51 to 0.75 for ≥4 compared with <2 years). Our EHR-based CDS tool is now active for 421 patients with LS throughout our health system. CONCLUSION: We have successfully developed an EHR-based CDS tool to promote guideline-recommended cancer risk management among patients with LS.

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Recurrence is a major cause of death among BRCA1/2 mutation carriers with breast (BrCa) and ovarian cancers (OvCa). Herein we perform multi-omic sequencing on 67 paired primary and recurrent BrCa and OvCa from 27 BRCA1/2 mutation carriers to identify potential recurrence-specific drivers. PARP1 amplifications are identified in recurrences (False Discovery Rate q = 0.05), and PARP1 is significantly overexpressed across primary BrCa and recurrent BrCa and OvCa, independent of amplification status. RNA sequencing analysis finds two BRCA2 isoforms, BRCA2-201/Long and BRCA2-001/Short, respectively predicted to be sensitive and insensitive to nonsense-mediated decay. BRCA2-001/Short is expressed more frequently in recurrences and associated with reduced overall survival in breast cancer (87 vs. 121 months; Hazard Ratio = 2.5 [1.18-5.5]). Loss of heterozygosity (LOH) status is discordant in 25% of patient's primary and recurrent tumors, with switching between both LOH and lack of LOH found. Our study reveals multiple potential drivers of recurrent disease in BRCA1/2 mutation-associated cancer, improving our understanding of tumor evolution and suggesting potential biomarkers.

A training program for anthropometric measurements by a dedicated nutrition support team improves nutritional status assessment of the critically ill child.

OBJECTIVES: The cornerstone of an optimal nutrition approach in PICUs is to evaluate the nutritional status of any patient. Anthropometric measurements and nutritional indices calculation allow for nutritional status assessment, which is not often part of routine management, as it is considered difficult to perform in this setting. We designed a study to evaluate the impact of a training program by the PICU nutritional support team on the implementation of routine anthropometric measurements on our PICU. DESIGN: A prospective study was performed over a 2-year period, which included: a baseline evaluation of nutritional assessment, knowledge, anthropometric measurements (weight, height, and head and mid upper arm circumferences), and nutritional indices calculation in patient files. This was followed by a training program to implement the newly developed nutrition assessment guidelines, which included anthropometrical measurements and also the interpretation of these. The impact of this nutritional assessment program was reviewed annually for 2 years after the implementation. SETTING: PICU--Lyon, France. PATIENTS AND SUBJECTS: PICU nursing and medical staff, and patients admitted in February 2011, 2012, and 2013. INTERVENTIONS: Training program. MEASUREMENTS AND MAIN RESULTS: Ninety-nine percent of staff (n = 145) attended the individual teaching. We found significant progress in nutritional awareness and confidence about nutritional assessment following the teaching program. In addition, an improvement in staff knowledge about undernutrition and its consequences were found. We enrolled 41, 55, and 91 patients in 2011, 2012, and 2013, respectively. There was a significant increase in anthropometric measurements during this time: 32%, 65% (p = 0.002), and 96% in 2013 (p < 0.001). Nutritional indices were calculated in 20%, 74% (p < 0.001), and 96% (p < 0.001) of cases. CONCLUSIONS: This is the first study, showing that a targeted nutritional assessment teaching program that highlights both the importance and techniques of anthropometrical measurements has successfully been implemented in a PICU. It managed to improve staff knowledge and nutritional practice.