Frequently Asked Questions (FAQs)
The simple answer: discovery and education for these disorders is still a work in progress. Researchers have reported around 80 rare genetic disorders of obesity, but don’t fully understand why some gene variants genetic 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 disorders of obesity, as well as connecting with others in the rare genetic disorders of obesity community.
You can help by participating in studies and registries that are designed to learn more about rare genetic disorders of obesity. Information on one such project, called The TEMPO (Tracing the Effect of the MC4R pathway MC4R pathway The MC4R pathway is one of the pathways that regulates weight and appetite in the brain. Click here to learn more about the MC4R pathway. in Obesity) Registry, can be found here.
Depending on symptoms, genetic testing usually begins by looking at genes gene 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.
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 disorders of obesity. In order to confirm a diagnosis of a rare genetic disorder 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 specialist doctor with additional in-depth training in genetics and medicine. 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. .
Online programs cannot tell you what type of variant variant A change in the standard “spelling” of a gene. Genetic variants may result in serious health problems or be “silent” with no negative health effects. you have in your genes. To figure out if your identified MC4R pathway gene variant 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 disorders of the MC4R pathway or other rare genetic disorders of obesity.
In the United States, not all laboratories test for rare genetic disorder 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.