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

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

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. This retrospective, descriptive study was conducted at a tertiary pediatric hospital's Clinical Genetics Uni...

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Veröffentlicht in:European journal of medical genetics 2023-11, Vol.66 (11), p.104858-104858, Article 104858
Hauptverfasser: Ferri-Rufete, David, López-González, Aitor, Casas-Alba, Dídac, Cuadras, Daniel, Palau, Francesc, Martínez-Monseny, Antonio
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Clinical genetics
Dysmorphology
Genetic testing
Pediatric patients
Referral criteria
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container_end_page 104858
container_issue 11
container_start_page 104858
container_title European journal of medical genetics
container_volume 66
creator Ferri-Rufete, David
López-González, Aitor
Casas-Alba, Dídac
Cuadras, Daniel
Palau, Francesc
Martínez-Monseny, Antonio
description 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. 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. 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 
doi_str_mv 10.1016/j.ejmg.2023.104858
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subjects Clinical genetics
Dysmorphology
Genetic testing
Pediatric patients
Referral criteria
title Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
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