Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.

OBJECTIVE: The objective of this study was to develop a simple tool for general physicians to promptly identify and refer pediatric patients with a higher probability of having a genetic condition. STUDY DESIGN: This retrospective, descriptive study was conducted at a tertiary pediatric hospital's Clinical Genetics Unit from June 2019 to January 2020. We included patients under 18 years of age who visited the unit, excluding those without genetic testing. Epidemiological, clinical, and genetic variables were collected from electronic medical records. The primary outcome was the diagnosis of a genetic condition based on genetic testing. RESULTS: Among 445 patients, 304 were included; 163 (53.6%) were male, and mean age was 7.4 years (SD 5.1 years). A genetic condition was diagnosed in 139 patients (45.7%). Using a multiple logistic regression model, five variables significantly contributed to reaching a diagnosis: suspected diagnosis at referral (OR 3.45, P < 0.001), short stature (OR 3.11, P < 0.001), global developmental delay/intellectual disability (OR 2.65, P < 0.001), dysmorphic craniofacial features (OR 1.99, P = 0.035), and multiple congenital anomalies (OR 2.54, P = 0.033). The association strength (OR) increased when these variables were paired with each other. The study's findings are presented in the form of a triangle, known as the Clinical Genetics Assessment Triangle (CGAT), which summarizes the results. A decision tree model is applied to guide clinical department referrals based on the affected sides of the triangle. CONCLUSIONS: The CGAT has the potential to enable general physicians to promptly identify pediatric patients with an increased probability of having a genetic condition.

Clusters of Cardiovascular Risk Factors and Their Impact on the 20-Year Cardiovascular Risk in a General Population.

BACKGROUND: Clustering of cardiovascular risk factors (CVRFs) is extraordinarily common and is associated with an increased risk of cardiovascular disease (CVD). However, the particular impact of the sum of CVRFs on cardiovascular morbidity and mortality has not been sufficiently explored in Europe. OBJECTIVE: The aim of this study was to analyze the differences in survival-free probability of CVD in relation to the number of CVRFs in a Spanish population. METHODS: A prospective cohort study was conducted from 1992 to 2016 in a Spanish population that included 1144 subjects with no history of CVD (mean age, 46.7 years) drawn from the general population. We calculated the number of CVRFs for each subject (male sex, smoking, diabetes, hypertension, dyslipidemia, obesity, and left ventricular hypertrophy). Cardiovascular morbidity and mortality records were collected, and survival analysis was applied (competing risk models). RESULTS: There were 196 cardiovascular events (17.1%). The differences in total survival-free probability of cardiovascular morbidity and mortality of the different values of the sum of CVRFs were significant, increasing the risk of CVD (hazard ratio, 1.30; 95% confidence interval, 1.13-1.50) per each additional risk factor. CONCLUSION: Differences in survival-free probability of CVD in relation to the number of CVRFs present were statistically significant. Further studies are needed to corroborate our results.