Genetic Testing: Uncovering the Underlying Cause of Severe Obesity

Recent advances in genetic research have helped broaden the understanding of genetic factors that can lead to early-onset, severe obesity and an insatiable hunger called hyperphagia. We are now able to sequence large batches of DNA samples to identify genetic variants that can lead to rare genetic disorders of obesity. Rare genetic disorders of obesity generally arise due to rare, highly impactful variants in just one gene that result in the loss of function of key energy balance regulating systems. The melanocortin-4 receptor (MC4R) pathway is one such key system that regulates hunger and body weight. When impaired, this pathway can lead to hyperphagia, causing an energy imbalance that ultimately results in increased body weight. Genetic testing has quickly become one of the most important tools in determining if a rare genetic disorder may be affecting the maintenance of normal energy balance. As a result, we are gaining a better understanding of ultra-rare disorders, including MC4R pathway-related rare genetic disorders of obesity.  

Genetic testing is especially important for the diagnosis of people living with rare genetic disorders of obesity. Genetic testing provides researchers and healthcare providers with a means to uncover the genetic variants causing severe obesity on a case by case basis. With many genes implicated in rare genetic disorders of obesity, genetic testing helps physicians improve their understanding of the root cause of the condition a patient lives with and how to best meet his or her unique needs. It also puts a spotlight on the clinical characteristics associated with certain genetic variants. For many patients, a better understanding of the potential cause of their obesity can help alleviate feelings of blame that stem from the stigma surrounding the condition.

Many researchers are determined to understand how impaired function of the MC4R pathway in the brain can lead to hallmark characteristics of rare genetic disorders of obesity, such as hyperphagia and early-onset, severe obesity. Through genetic testing, researchers have been able to closely study genetic variants that lead to these disorders that each affect about one in 1,000,000 people. Despite the ultra-rare status of MC4R pathway-related genetic disorders of obesity, genetic testing has provided researchers with the resources needed to better understand their prevalence and impact.

Genetic testing is transforming the landscape of severe obesity research and greatly advancing the potential to make a meaningful impact in the lives of individuals living with rare genetic disorders of obesity. As research continues, genetic testing has proven to be an effective way to grow our understanding of both the cause and impact of these rare disorders. The availability and wider utilization of genetic testing programs will help build a stronger foundation for future management and treatment strategies that can lessen the burden of individuals living with these disorders.

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