Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.

PURPOSE: Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes. METHODS: Using genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies. RESULTS: The strongest predictors included sex, CFTR severity score, and several genetic variants including one annotated to PRSS1, which encodes cationic trypsinogen. The final model defined in the CGS shows excellent agreement when validated on the FGMS, and the risk classifier shows slightly better performance at predicting CFRD risk later in life in both studies. CONCLUSION: We demonstrated clinical utility by comparing CFRD prevalence rates between the top 10% of individuals with the highest risk and the bottom 10% with the lowest risk. A web-based application was developed to provide practitioners with patient-specific CFRD risk to guide CFRD monitoring and treatment.

Implementing a palliative care trial in advanced COPD: a feasibility assessment (the COPD IMPACT study).

BACKGROUND: Patients and caregivers living with advanced chronic obstructive pulmonary disease (COPD) have complex care needs and may benefit from palliative care intervention. Little is known about how best to implement and evaluate such initiatives. OBJECTIVES: To determine the feasibility of: 1) implementing a customized home-based palliative care service for patients and caregivers living with advanced COPD and 2) measuring outcomes of providing such services. DESIGN: Single-centre cohort longitudinal observational study. SETTING/SUBJECTS: Patients with advanced COPD and their caregivers were followed in their homes for 6 months. MEASUREMENTS: Health-related quality of life (HRQoL), caregiver burden, symptom severity, patient/caregiver satisfaction, utilization of acute care services, end-of-life (EOL) outcomes. RESULTS: 30 patients and 18 caregivers were enrolled over 33 months. 25 patients (83%) and 14 caregivers (77%) reached our study endpoint. 13 patients (52%) and 5 caregivers (36%) completed outcome measurements at baseline and endpoint. HRQoL, caregiver burden and symptom severity did not change. Palliative care services were welcomed and valued, yet, despite a stated preference to die at home, 16 patients who died within 18 months of study enrollment died in hospital. CONCLUSIONS: Providing home-based palliative care services for patients with advanced COPD is feasible but completing repeated questionnaires is impractical. Despite significant palliative supports, managing terminal symptoms exceeded caregivers' capacity to cope and forced hospital admission. Insights into systemic barriers and limitations of current palliative care service models can provide opportunities for local program innovation aimed at improving care for advanced COPD.