2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Project Searchlight Study Methodology: Real-World Evaluation and Validation of an Algorithm to Identify Persons at Risk of Gaucher Disease

Pdf Summary

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

Sequencing

Risk Assessment

Phenotype

Natural History

Methodology

Metabolic Disorder

Lysosomal Diseases

Genetic Testing

Delineation of Diseases

Databases

Clinical History

Bioinformatics

Co-Author Amanda Wilson, PhD

Co-Author Neal Weinreb, MD

Co-Author Neha Shah, PhD

Co-Author Patrick Pavlick, BS

Co-Author Martin Montmerle, MBA

Co-Author François Modave, PhD

Co-Author Pramod Mistry, MBBS, PhD, MA, MD

Co-Author Judy Hull, MS

Co-Author Alexandra Dumitriu, PhD

Co-Author Alexandra Chiorean, MSc

Co-Author Mario Aguiar, MD

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