Background

The prevalence of people living with obesity in the US is currently reported to be 41.6% by the CDC. This widespread condition is attributed to various factors and can have a significant impact on both quality of life and likelihood of developing medical comorbidities. Genetic obesity syndromes such as Bardet-Biedl Syndrome (BBS), once deemed rare, are being reconsidered due to increasing obesity rates.

Methods

Mochi Health is a nationwide telemedicine company which offers genetic testing for patients. To receive testing, patients must meet the following criteria: less than 18 yo with a BMI equal to or greater than the 97th percentile, older than 18 yo with a BMI equal to or greater than the 40th percentile and a history of childhood obesity, an immediate family member of a select previously tested patients, OR if they have clinical symptoms consistent with BBS. Based on these indications we reviewed all patients who were tested.

Results

One hundred and one patients were tested for a possible rare genetic obesity disorder. From these 101 patients, 35 were found to have at least one mutation associated with BBS.

Conclusions

With the advent of targeted treatments for conditions like BBS, understanding genetic markers of obesity has gained clinical significance in guiding treatment strategies. Our findings suggest that genetic obesity is more prevalent than previously believed, emphasizing the importance of including genetic screening tests in order to create effective treatment plans.