PreventionGenetics Receives FDA Approval for its Companion Diagnostic Genetic Test as a Class II Medical Device

PreventionGenetics, a subsidiary of Exact Sciences Corp., announced today that it was recently granted marketing authorization for the POMC/PCSK1/LEPR companion diagnostic (CDx) genetic test as a Class II device by the Center for Devices and Radiological Health (CDRH), a division of the Food and Drug Administration (FDA). PreventionGenetics, an accredited germline DNA testing laboratory offering genetic testing to patients and physicians around the world, developed the test in collaboration with Rhythm Pharmaceuticals, Inc.

The need for a diagnostic test to confirm variants in POMC, PCSK1 or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS) has been added to the label for IMCIVREE^® (setmelanotide), a product marketed by Rhythm Pharmaceuticals that was approved by the FDA in 2020 for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency.

There is an important distinction between general obesity—a multifactorial condition influenced by multiple genes and environmental factors—and diseases of obesity caused by single-gene variants (monogenic).¹ Like many other genetic disorders, monogenic obesity is extremely rare, with a prevalence of less than 4% in individuals with early onset obesity.^2,3 Identifying these patients through genetic testing allows them to be matched with a targeted therapy, helping to provide relief for an otherwise debilitating condition.

“We’re proud to play a part in identifying people with severe obesity who may benefit from taking IMCIVREE, the first FDA approved therapy for people with severe obesity potentially caused by certain genetic deficiencies,” said Eric Bend, PhD, FACMG, Associate Laboratory Director at PreventionGenetics.

IMCIVREE is not indicated for the treatment of patients with obesity due to suspected POMC, PCSK1 or LEPR deficiency with POMC, PCSK1 or LEPR variants classified as benign or likely benign, or other types of obesity not related to POMC, PCSK1 or LEPR deficiency, or other approved indications, including obesity associated with other genetic syndromes and general (polygenic) obesity.

In clinical trials, IMCIVREE was generally well-tolerated. Disturbance in sexual arousal, depression and suicidal ideation, increased skin pigmentation and darkening of pre-existing nevi, and benzyl alcohol toxicity in neonates and low birth-weight infants may occur. The most common adverse reactions were skin hyperpigmentation, injection site reactions and nausea.