The test is provided at no cost to participants; however, there may be office visit, copay, sample collection, or other related costs to participants.
GENETIC TESTING PROGRAM
Free* genetic testing
*Covers cost of test only—excludes office visit, copay, sample collection, and any other related costs to participant.
If you suspect you may have a rare genetic disorder of obesity, genetic testing may provide useful information to you and your doctor. However, testing can be costly and is not always covered by insurance.
Rhythm Pharmaceuticals, a company dedicated to transforming care of those living with rare genetic disorders of obesity, is sponsoring the Uncovering Rare Obesity program to help address this need. The program, available in the United States, includes:
- free genetic testing for eligible individuals
- the option to take the test in your doctor’s office or at home
- test processing through a CLIA-certified independent laboratory
- access to licensed genetic counselors for 2 counseling sessions (one before the test and one after)
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Am I eligible?
The program is designed for those affected by severe obesity who suspect there is more to their obesity than diet and lifestyle. Typically, this includes symptoms such as insatiable hunger, weight gain while on a restricted diet and exercise, and severe obesity early in life.
To qualify, you must be:
- 2-18 years of age, with a body mass index (BMI) in the 97th percentile or more, or
- 19 years or older, with a BMI of 40 or more and a history of childhood obesity before age 10
BMI can be used as a general measure of body fat determined by comparing height and weight. Adults can measure their BMI here. Parents or legal guardians can check the BMI for children and teens here.
Your doctor will help you determine if you are eligible and will order the test on your behalf.
A genetic test is only one factor your doctor may use to help determine a diagnosis. Your family history, personal health history, and exact symptoms will also be considered. Speak with your doctor to determine the best plan for you.
How does it work?
The process is simple:
Speak with your doctor to determine if you are eligible. You can prepare for this conversation here.
Your doctor must order the test. You can complete the test in his or her office (via an oral swab or blood test) or at home (via a saliva sample). Your sample is then sent to an independent laboratory, PreventionGenetics, for testing.
The results from your test will be sent directly to your doctor approximately 3 weeks after your sample and completed information are received by the lab.
If you have questions about taking the test or about your results, genetic counselors are available as part of the program. You may email firstname.lastname@example.org to schedule 2 counseling sessions (one before the test and one after) as part of the program. (Participants may choose to have one, both, or none of the counseling sessions offered through the program.)
What does it cost?
Will my information be public?
Your personal information and test results will only be shared with your doctor.
With your consent, combined information from all individuals who take the test may be de-identified (all personal information removed) and used in research efforts to better understand rare genetic disorders of obesity. Rhythm Pharmaceuticals will NOT receive any personal information about any program participants.
What do my results mean?
Genetic testing results don't always provide a "yes" or "no" answer. In some cases, testing may provide clues rather than a clear diagnosis.
After your doctor reviews your results with you, it may be helpful to schedule an appointment with a genetic counselor to understand what your results may mean and what options you may have.
Genetic counselors are available as part of the program. To schedule an appointment with a genetic counselor, you may email email@example.com.
Always speak with your doctor or a genetic counselor to understand your specific results, which typically will fall into one of the following categories:
A positive result means the genetic test revealed a change in your genes that is likely to explain your/your child’s obesity. These are known as pathogenic (disease-causing) or likely pathogenic variants. This may lead to a diagnosis, or your doctor may decide to perform additional tests. It also could mean you are a genetic carrier, you are more likely to get a disease in the future, or someone in your family may have the disease.
Sometimes tests return a result of "Variant of Unknown Significance" or "VUS." This means that there is a variant in your genes, but scientists don't yet know with certainty whether it will cause a specific disease or if the changes are entirely benign. Until more information is known about the variants seen, results are considered indeterminate. Eventually, as we learn more, it’s possible that the interpretation could change to be positive or negative.
A negative result typically means the genetic change was not seen in your sample, or if a change was seen, it is not expected to cause health problems. The latter is referred to as a benign or likely benign variant. This may help rule out certain conditions or indicate you are less likely to experience that condition in the future. Your doctor may also decide to perform additional tests to learn more. Importantly, there still could be an unknown inherited or genetic cause, as not all genetic causes of obesity are currently known.