Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.

Background: The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley at the Texas-Mexico border is predominantly Hispanic with a high poverty rate and an increased prevalence of birth defects, with very limited access to genetics services. The cost of a diagnosis is often times out of reach for these underserved families. Funded by the National Center for Advancing Translational Sciences (NCATS), Project GIVE (Genetic Inclusion by Virtual Evaluation) was launched in 2022 to shorten the time to diagnosis and alleviate healthcare inequities in this region, with the goal of improving pediatric health outcomes. Methods: Utilizing Consultagene, an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform, we designed the study to recruit 100 children with rare diseases over a period of two years from this region, through peer-to-peer consultation and referral. Conclusions: Project GIVE study has allowed advanced genetic evaluation and delivery of genome sequencing through the virtual portal, effectively circumventing the recognized socioeconomic and other barriers within this population. This paper explores the successful community engagement process and implementation of an alternate genomics evaluation platform and testing approach, aiming to reduce the diagnostic journey for individuals with rare diseases residing in a medically underserved region.

Association and diagnostic value of a novel uric acid index to cardiovascular risk.

OBJECTIVES: Cardiovascular diseases (CVD) are the leading cause of death and disability worldwide. The aim of this study was to assess the association and diagnostic value of a novel uric acid index (UA index) to cardiovascular risk (CVR). DESIGN: and Methods: An analytical cross-sectional study was performed. We analyzed data from the Plan for Prevention and Surveillance of Communicable and Non-Communicable Diseases at the Hospital de Huaycan, Peru. The QRISK model was used to measure the CVR. Stepwise regression models were performed to determine significant factors to predict CVR and formulate the UA index, then the association of UA index and high CVR was evaluated by Poisson regression models, and the diagnostic accuracy was verified through ROC curves. RESULTS: In total 291 participants (206 women and 85 men) were analyzed. The correlation between UA index to CVR was stronger (R 2 :0.31, p < 0.001) than uric acid (UA) alone (R 2 :0.19, p < 0.001), and the contribution of UA was stronger than triglycerides or glucose in the stepwise regression model. In the Poisson models, the UA index adjusted model (PRa: 1.58, CI95% 1.11-2.24) presented significant independent association to CVR. The diagnostic accuracy was similar in men (cut-off: 10.8, AUC:0.81; 0.75-0.87) and women (cut-off: 10.0; AUC: 0.77, 0.71-0.84). CONCLUSION: UA index presented a good diagnostic accuracy and independent significant association to high CVR in adults from Peru. This marker can be used to assess CVR and follow therapeutic progress in primary health care.

Regional citrate anticoagulation for continuous renal replacement therapy in pediatric patients with liver failure.

Pediatric liver failure patients frequently develop multiple organ failure and require continuous renal replacement therapy (CRRT) as part of supportive therapy in the pediatric intensive care unit. While many centers employ no anticoagulation for fear of bleeding complications, balanced coagulation disturbance predisposes these patients to clotting as well as bleeding, making maintenance of longer circuit life to deliver adequate dialysis clearance challenging. Regional citrate anticoagulation (RCA) is an attractive option as it avoids systemic anticoagulation, but since citrate metabolism is impaired in liver failure, concerns about toxicity has limited its use. Pediatric data on RCA with liver failure is very scarce. We aimed to establish safety and efficacy of RCA in pediatric liver failure patients on CRRT. Retrospective review of pediatric patients with liver failure receiving CRRT over 30 months. Demographic data and CRRT related data were collected by chart review. Citrate accumulation (CA) was defined as total calcium (mg/dl) /ionized calcium (mmol/L) ratio >2.5 for > 48 hours. Efficacy was assessed by filter life. Safety was assessed by frequency of adverse events ((AEs) defined as bleeding, hemodynamic instability, arrhythmias). Fifty-one patients (median age 3.5 (IQR 0.75-14.2) years) received 861 CRRT days; 70% experienced at least one episode of CA, only 37% were recorded as such in the medical record. AE rate was 93/1000 CRRT days and did not differ between CA days and others. Median filter life was 66 hours (IQR 29-74); 63% filters lasted longer than 48 hrs. Though common, CA was not associated with increased AEs on in pediatric liver failure patients on CRRT receiving RCA. Filter life was adequate. RCA appears an effective anticoagulation for CRRT in pediatric liver failure. Application of a structured definition would increase recognition of CA to allow timely intervention.