Frequently Asked Questions (FAQs)

The simple answer: Discovery and education for these diseases is still a work in progress. While scientists continue to explore and seek to better understand rare genetic diseases of obesity, researchers still don’t fully understand why some gene variants gene variants Changes (also known as variants) in the standard “spelling” of a gene. Gene variants can result in serious health problems or be “silent” with no negative health effects. cause more health problems than others. Even healthcare providers who specialize in genetics might not be aware of the latest information. This means that your best chance of finding answers to your questions is working with an expert in rare genetic diseases of obesity, as well as connecting with others in the rare genetic diseases of obesity community.

You can help by participating in studies and registries that are designed to learn more about rare genetic diseases of obesity. If you feel that you or a loved one may have a rare genetic disease of obesity, talk to your doctor about the Uncovering Rare Obesity® program, in which Rhythm Pharmaceuticals covers the cost of the genetic test only—excluding any office visit, copay, sample collection, and any other related costs. You can find out more here.
Depending on symptoms, genetic testing usually begins by looking at genes genes Our body’s instruction manual that informs how our bodies grow, develop, and function. It is through our genes that traits are passed down from parent to offspring. in the MC4R pathway including (but not limited to) LEPR, POMC, and PCSK1. If you feel that you or a loved one may have a rare genetic disease of obesity, talk to your doctor about the Uncovering Rare Obesity program, in which Rhythm Pharmaceuticals covers the cost of the genetic test only—excluding any office visit, copay, sample collection, and any other related costs. You can find out more here.
No. There is a big difference between DTC tests, which are designed for general information, traits, and ancestry information, and diagnostic genetic testing. DTC kits are unable to effectively test for many specific genetic variants like those that cause rare genetic diseases of obesity. In order to confirm a diagnosis of a rare genetic disease of obesity, it is important to work with a doctor who understands diagnostic testing options and how to read and interpret the results. This will usually be a medical geneticist medical geneticist A healthcare provider with in-depth training in genetic science and counseling who helps people understand complicated genetic topics and adapt to the medical, emotional, and familial implications of genetic diseases. or genetic counselor genetic counselor A healthcare provider with in-depth training in genetic science and counseling who helps people understand complicated genetic topics and adapt to the medical, emotional, and familial implications of genetic diseases.. If you feel that you or a loved one may have a rare genetic disease of obesity, talk to your doctor about the Uncovering Rare Obesity program, in which Rhythm Pharmaceuticals covers the cost of the genetic test only—excluding any office visit, copay, sample collection, and any other related costs. You can find out more here.
To figure out if your identified MC4R pathway gene variant variant Genetic variants may result in serious health problems or be “silent” with no negative health effects.  is disease-causing, you need to confirm it through diagnostic genetic testing. It is also important to be evaluated for the health problems seen in diseases of the MC4R pathway or other rare genetic diseases of obesity. If you feel that you or a loved one may have a rare genetic disease of obesity, talk to your doctor about the Uncovering Rare Obesity program, in which Rhythm Pharmaceuticals covers the cost of the genetic test only—excluding any office visit, copay, sample collection, and any other related costs. You can find out more here.

In the United States, not all laboratories test for rare genetic diseases of obesity. To help determine which laboratories test for these conditions, it is usually best to work with a genetics expert. Medical geneticists and genetic counselors are healthcare professionals specifically trained in genetic conditions, genetic diagnosis, genetic testing, and interpretation of genetic results.

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