What is the role of genetic testing in adolescents with severe obesity?

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Last updated: March 19, 2025View editorial policy

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From the Guidelines

Genetic testing plays a crucial role in diagnosing and managing severe obesity in adolescents, particularly when obesity is suspected to have a monogenic cause. Testing should be considered for adolescents with severe early-onset obesity (typically before age 5), especially when accompanied by hyperphagia, endocrine abnormalities, developmental delays, or a strong family history of early-onset obesity. The most common genetic causes include mutations in genes controlling appetite regulation and energy balance, such as MC4R, POMC, LEPR, and LEP. Comprehensive genetic testing typically involves sequencing panels that examine multiple obesity-related genes simultaneously. Identifying a specific genetic cause can significantly impact treatment decisions, as some genetic forms of obesity may respond to targeted therapies. For example, adolescents with POMC or LEPR deficiency may benefit from setmelanotide (Imcivree), a melanocortin-4 receptor agonist, at an initial dose of 2 mg daily, potentially increasing to 3 mg daily based on response 1. Genetic diagnosis also helps establish realistic weight management expectations, guides appropriate counseling, and may prevent unnecessary interventions. Additionally, it can inform family planning discussions and identify at-risk family members who might benefit from early intervention. Key considerations in the management of severe obesity in adolescents include:

  • Early identification and intervention
  • Comprehensive genetic testing for monogenic causes
  • Targeted therapies for specific genetic forms of obesity
  • Family-based lifestyle interventions
  • Ongoing monitoring and support to prevent weight regain and promote long-term health outcomes. It is essential to prioritize the most recent and highest-quality evidence when making treatment decisions, and to consider the individual needs and circumstances of each adolescent with severe obesity 1.

From the Research

Role of Genetic Testing in Adolescents with Severe Obesity

  • Genetic testing for obesity in adolescents is a complex issue that involves various factors, including family involvement, comprehension of the test's meaning, and potential psychological effects 2
  • While there is no direct evidence on the role of genetic testing in adolescents with severe obesity, research suggests that genetic factors play a significant role in the development of obesity 3, 2
  • The use of genetic testing in adolescents with severe obesity may help identify underlying genetic causes of the condition, which could inform treatment decisions 2
  • However, there are concerns about the potential psychological effects of genetic testing on adolescents, including stigma, self-esteem, and body image issues 2
  • Further research is needed to explore the potential benefits and risks of genetic testing in adolescents with severe obesity and to develop guidelines for its use in clinical practice

Current Treatment Options for Adolescents with Severe Obesity

  • Current treatment options for adolescents with severe obesity include lifestyle modification therapy, pharmacotherapy, and metabolic and bariatric surgery 4, 5, 3, 6
  • Lifestyle modification therapy, including dietary, physical activity, and behavioral counseling, is the first-line treatment for adolescents with obesity 4, 6
  • Pharmacotherapy, including medications such as liraglutide and semaglutide, may be effective in reducing BMI in adolescents with severe obesity 4, 5
  • Metabolic and bariatric surgery may be considered for adolescents with severe obesity who have not responded to other treatments 4, 6

References

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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