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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Uncovering Rare Obesity Genetic Testing Program: U ...
Uncovering Rare Obesity Genetic Testing Program: Utility of Genetic Testing in Pediatric and Adult Patients with Obesity
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Pdf Summary
The Uncovering Rare Obesity® program offers genetic testing for rare MC4R pathway diseases associated with obesity. This study aimed to determine the frequency of rare MC4R pathway variants in pediatric and adult patients tested through the program. The program provides no-charge genetic testing and counseling to eligible patients in the US and Canada. As of May 2022, 9,680 patients were sequenced, of which 39.7% of adults carried rare genetic variants associated with the MC4R pathway. The proportion of patients with pathogenic or likely pathogenic (P/LP) variants, variants of uncertain significance (VUS-SP), or VUS was similar between adults and pediatric patients. The testing panel includes 79 genes and 1 chromosomal region, and results are available approximately 3 weeks after sample receipt. The study concluded that genetic testing is important for adults with severe obesity who have not received a prior diagnosis of a rare genetic disease associated with the MC4R pathway. This information can lead to improved care and specialized management strategies for these patients. The study was sponsored by Rhythm Pharmaceuticals, and the authors are employees and stockholders of the company. The Uncovering Rare Obesity® program aims to provide genetic testing access to patients with suspected rare variants associated with MC4R pathway diseases of obesity, regardless of age.
Asset Subtitle
Submitter Only - Madison Floyd, MPH; Co-Author - Patrick W. Kleyn, PhD; Presenting Author - Patrick MA. Sleiman, PhD; Co-Author - Elliot Bromberg, BS; Co-Author - Rick Norton, BS, MBA;
Meta Tag
Genetic Testing
Identification of Disease Genes
Sequencing
Variant Detection
Co-Author
Patrick W. Kleyn, PhD
Co-Author
Elliot Bromberg, BS
Co-Author
Rick Norton, BS, MBA
Presenting Author
Patrick MA. Sleiman, PhD
Submitter Only
Madison Floyd, MPH
Keywords
Uncovering Rare Obesity
genetic testing
MC4R pathway diseases
pediatric patients
adult patients
rare genetic variants
pathogenic variants
uncertain significance variants
testing panel
improved care
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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