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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Variants in Obesity-Related Genes in a Population ...
Variants in Obesity-Related Genes in a Population with Early-Onset Obesity
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Pdf Summary
The Uncovering Rare Obesity® testing program aims to improve the diagnosis and management of rare genetic diseases of obesity by providing genetic testing to individuals with severe obesity in the United States. The program began in 2019 and has since expanded its panel of genes related to obesity to include 79 genes and 1 chromosomal region. Eligible individuals include those with a body mass index (BMI) ≥97th percentile if they are ≤18 years of age, or a BMI ≥40 kg/m2 with a history of childhood obesity if they are ≥19 years of age. Relatives of previously tested individuals and those with clinical symptoms related to Bardet-Biedl syndrome are also eligible.<br /><br />As of November 2022, the program has analyzed sequences from 14,608 individuals. The results show that 76% of the individuals carried potentially clinically relevant variants in obesity-related genes or the analyzed chromosomal region. Of those, 34% had variants that are indicated for treatment with the MC4R agonist setmelanotide or are being investigated for setmelanotide efficacy in clinical trials. Another 42% had variants that might support a diagnosis of genetically related obesity, but were not indicated for setmelanotide treatment or being investigated in clinical trials. The remaining 24% did not have pathogenic variants or variants of uncertain significance.<br /><br />The identification of variants related to the MC4R pathway in 76% of the tested individuals suggests the potential utility of genetic testing in guiding diagnostics and therapeutic approaches for individuals with obesity-related variants. The Uncovering Rare Obesity® program is part of efforts to improve the recognition and management of rare genetic diseases of obesity. Similar programs, such as Rare Obesity Advanced Diagnosis, are available in the European Union.
Asset Subtitle
Submitter Only - Madison Floyd, MPH; Presenting Author - Patrick W. Kleyn, 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
Elliot Bromberg, BS
Co-Author
Rick Norton, BS, MBA
Presenting Author
Patrick W. Kleyn, PhD
Submitter Only
Madison Floyd, MPH
Keywords
Uncovering Rare Obesity
genetic testing
rare genetic diseases
obesity
diagnosis
management
body mass index
BMI
MC4R agonist setmelanotide
clinical trials
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