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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Project Searchlight Study Methodology: Real-World ...
Project Searchlight Study Methodology: Real-World Evaluation and Validation of an Algorithm to Identify Persons at Risk of Gaucher Disease
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This document outlines the methodology and objectives of the Project Searchlight study, which aims to evaluate a rare disease algorithm (RDA) for identifying patients at risk of Gaucher disease (GD). GD is a lysosomal storage disease that may go unrecognized by physicians, leading to long diagnostic journeys for patients. The RDA was developed using data from a de-identified US electronic health record (EHR) database and includes factors such as diagnoses, symptoms, laboratory values, patient demographics, and healthcare provider interactions.<br /><br />The study consists of three steps: implementing the RDA, characterizing the top 50 ranked patients per site, and conducting diagnostic testing for GD and acid sphingomyelinase deficiency (ASMD). Four healthcare systems will be selected for the study, and patient data will be extracted from the EHRs and medical records.<br /><br />The primary objective of the study is to estimate the diagnostic yield of patients highly ranked by the RDA for GD and determine the magnitude of unrecognized GD in these patients. Secondary objectives include describing the characteristics of highly ranked patients, assessing the distribution of RDA scores, and examining the correlation between RDA scores and outcomes.<br /><br />Exploratory objectives of the study include assessing the contribution of age and prevalence scores to the RDA, describing the characteristics associated with each healthcare system, exploring the diagnostic yield for ASMD among highly ranked patients, and evaluating additional predictors of GD-positive findings in confirmatory testing.<br /><br />The document provides details of the features and attributes used in the RDA development and highlights the importance of factors such as bone disorders, hepatic and cardiac problems, nervous system issues, and anemia.<br /><br />Overall, the Project Searchlight study aims to evaluate the effectiveness of the RDA in identifying patients at risk of GD and potentially shortening the diagnostic delay for this rare disease.
Asset Subtitle
Presenting Author - Lisa Sniderman King, MSc, CGC; Co-Author - Mario Aguiar, MD; Co-Author - Alexandra Chiorean, MSc; Co-Author - Alexandra Dumitriu, PhD; Co-Author - Judy Hull, MS; Co-Author - Pramod Mistry, MBBS, PhD, MA, MD; Co-Author - François Modave, PhD; Co-Author - Martin Montmerle, MBA; Co-Author - Patrick Pavlick, BS; Co-Author - Neha Shah, PhD; Co-Author - Neal Weinreb, MD; Co-Author - Amanda Wilson, PhD;
Meta Tag
Bioinformatics
Clinical History
Databases
Delineation of Diseases
Genetic Testing
Lysosomal Diseases
Metabolic Disorder
Methodology
Natural History
Phenotype
Risk Assessment
Sequencing
Co-Author
Mario Aguiar, MD
Co-Author
Alexandra Chiorean, MSc
Co-Author
Alexandra Dumitriu, PhD
Co-Author
Judy Hull, MS
Co-Author
Pramod Mistry, MBBS, PhD, MA, MD
Co-Author
François Modave, PhD
Co-Author
Martin Montmerle, MBA
Co-Author
Patrick Pavlick, BS
Co-Author
Neha Shah, PhD
Co-Author
Neal Weinreb, MD
Co-Author
Amanda Wilson, PhD
Presenting Author
Lisa Sniderman King, MSc, CGC
Keywords
Project Searchlight study
rare disease algorithm
Gaucher disease
lysosomal storage disease
diagnostic testing
electronic health record
diagnostic yield
RDA scores
healthcare system characteristics
diagnostic delay
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