Prevalence of genetic causes of obesity in clinical practice
Abstract Background 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 we...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-10-01
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| Series: | Obesity Science & Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/osp4.671 |
| _version_ | 1797666012043149312 |
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| author | Jaclyn Tamaroff Dylan Williamson James C. Slaughter Meng Xu Gitanjali Srivastava Ashley H. Shoemaker |
| author_facet | Jaclyn Tamaroff Dylan Williamson James C. Slaughter Meng Xu Gitanjali Srivastava Ashley H. Shoemaker |
| author_sort | Jaclyn Tamaroff |
| collection | DOAJ |
| description | Abstract Background 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. Methods 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. Results 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 z‐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. Conclusion 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. |
| first_indexed | 2024-03-11T19:52:07Z |
| format | Article |
| id | doaj.art-34a78e40036e42e4b7abac281a1b4365 |
| institution | Directory Open Access Journal |
| issn | 2055-2238 |
| language | English |
| last_indexed | 2024-03-11T19:52:07Z |
| publishDate | 2023-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Obesity Science & Practice |
| spelling | doaj.art-34a78e40036e42e4b7abac281a1b43652023-10-05T03:34:31ZengWileyObesity Science & Practice2055-22382023-10-019550851510.1002/osp4.671Prevalence of genetic causes of obesity in clinical practiceJaclyn Tamaroff0Dylan Williamson1James C. Slaughter2Meng Xu3Gitanjali Srivastava4Ashley H. Shoemaker5Division of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USADivision of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USADepartment of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USADepartment of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USADivision of Diabetes, Endocrinology, and Metabolism Vanderbilt University Medical Center Nashville Tennessee USADivision of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USAAbstract Background 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. Methods 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. Results 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 z‐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. Conclusion 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.https://doi.org/10.1002/osp4.671body mass indexgenetic testinggeneticsobesitypediatric obesity |
| spellingShingle | Jaclyn Tamaroff Dylan Williamson James C. Slaughter Meng Xu Gitanjali Srivastava Ashley H. Shoemaker Prevalence of genetic causes of obesity in clinical practice Obesity Science & Practice body mass index genetic testing genetics obesity pediatric obesity |
| title | Prevalence of genetic causes of obesity in clinical practice |
| title_full | Prevalence of genetic causes of obesity in clinical practice |
| title_fullStr | Prevalence of genetic causes of obesity in clinical practice |
| title_full_unstemmed | Prevalence of genetic causes of obesity in clinical practice |
| title_short | Prevalence of genetic causes of obesity in clinical practice |
| title_sort | prevalence of genetic causes of obesity in clinical practice |
| topic | body mass index genetic testing genetics obesity pediatric obesity |
| url | https://doi.org/10.1002/osp4.671 |
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