Prevalence of genetic causes of obesity in clinical practice

While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who requires testing. The aims of this study were to evaluate the p...

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Bibliographic Details
Published in:Obesity science & practice 2023-10, Vol.9 (5), p.508-515
Main Authors: Tamaroff, Jaclyn, Williamson, Dylan, Slaughter, James C, Xu, Meng, Srivastava, Gitanjali, Shoemaker, Ashley H
Format: Article
Language:English
Subjects:
Adults
Age
Bardet-Biedl syndrome
Blood pressure
Body mass index
Child development
Clinical medicine
Endocrinology
FDA approval
Genes
Genetic screening
Genetic testing
genetics
Genotype & phenotype
Obesity
Original
pediatric obesity
Pediatrics
Weight control
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Summary:While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who requires testing. The aims of this study were to evaluate the prevalence of potentially clinically significant variants among individuals in Pediatric Endocrinology or Medical Weight Center clinics at a single center and to identify clinical characteristics that may make genetic obesity more likely. Children and adults who had a genetic test for obesity, Uncovering Rare Obesity Gene panel, ordered during routine clinic visits from December 2019 to March 2021 were identified. Of the 139 patients with testing ordered, 117 had available results and clinical data. Over 40% (52/117, 44%) had at least one positive result (variant) with a variant that is considered pathogenic, likely pathogenic, or a variant of uncertain significance. No association was detected between age, sex, race, and body mass index (BMI) or BMI -score with a variant. Twenty-six individuals (22%) had one or more variants in genes associated with Bardet Biedl Syndrome, and 8 (6.8%) of them had pathogenic variants, higher than expected. Overall, clinical suspicion for genetic obesity is important in determining who requires genetic testing but no clinical factors were found to predict results. While obesity is multifactorial, novel medications for genetic forms of obesity indicate the need for evidence-based guidelines for who requires genetic testing for obesity.
ISSN:2055-2238
2055-2238
DOI:10.1002/osp4.671