UNCOVERING
RARE OBESITYTM
If you think there’s more to your obesity and hunger, talk to your doctor to find out why.
Uncovering Rare Obesity™ is a program sponsored by Rhythm Pharmaceuticals to help identify rare genetic diseases of obesity. Eligible individuals can receive a genetic test and two genetic counselling sessions (one before and one after the test) at no charge. Patients are responsible for any doctor visits and may be responsible for sample collection.
All obesity is not the same
Some forms of obesity are caused by variants or changes in your genes. Genes are your body’s instruction manual. They determine how your body grows, develops, and functions.
Changes in your genes can cause certain diseases, like rare genetic diseases of obesity. In these conditions, a key part of the brain responsible for controlling hunger doesn’t work properly and prevents the brain from telling the body that the stomach is full. Without this important signal, hunger is stuck in the “on” position.
Common symptoms
Individuals affected by rare genetic diseases of obesity can experience a range of symptoms, but two of the most common are:
Severe obesity that begins early in life (early-onset obesity)
Extreme weight gain early in childhood, usually before 5 years of age. This is typically far more weight than would be expected based on age, for instance a body mass index (BMI) greater than the 95th percentile.
Feelings of intense hunger that may never go away (hyperphagia)
A deep and overwhelming hunger that can make it difficult to focus on anything else. It can feel as though the body is always in search of food, even just after eating a meal.
Genetic testing may help your search for answers
If you experience these symptoms, genetic testing may provide useful information for you and your doctor including:
- Potential eligibility for clinical studies
- Appropriate disease management and care options
- A possible diagnosis
“Having a genetic test gave us answers. The diagnosis helped us understand that Drake’s challenges weren’t our fault, and they weren’t Drake’s fault.”
Denise, mom to Drake, living with a rare genetic disease of obesity
Understanding eligibility
A healthcare professional must order the test. To qualify for genetic testing through the Uncovering Rare Obesity™ program, you must be located in Canada and be:
How it works
SPEAK WITH YOUR DOCTOR
Your doctor will determine if genetic testing is right for you and if you are eligible for the test. If you have questions before taking the test, contact a genetic counselor.
SIGN CONSENT AND AUTHORIZATION FORMS
If you are eligible, your doctor will order the test, which can be conducted in-office or at your home and ask you to review and sign a consent form giving your permission to collect your sample.
PROVIDE YOUR SAMPLE
Next, you will provide a sample. If your doctor collects your sample in-office, it will be via an oral swab. If your doctor orders an at-home test, you will use an oral swab to collect the sample yourself. Sample collection instructions are included in the genetic test kit.
SAMPLE TESTED
Your sample is sent to a clinical laboratory, PreventionGenetics, for testing.
RESULTS
If all forms are complete and the sample is sufficient, the laboratory will send your genetic test results directly to your doctor in approximately 3 weeks. Follow up with your doctor to receive a genetic report with the results from your test. A genetic counselor can also review your results with you after testing.
Questions?
You can also find the answers to common questions here.
Support throughout the process
Your doctor will help you understand what your results mean and work with you to determine next steps. In addition, the program includes access to genetic counselors – individuals who specialize in helping people understand inherited conditions and how your specific genetic information could impact health and lifestyle.
The Uncovering Rare Obesity™ program includes two genetic counseling sessions with a licensed genetic counselor who can answer your questions before testing and review your results after testing. These sessions are scheduled at your convenience and conducted via phone or video. After each session, you will receive a summary of the information reviewed. Interpretation is available for multiple languages.
Email [email protected] or call 1-844-463-8474 to schedule sessions.
Get Started
The first step in determining if genetic testing is right for you is to talk with your doctor. To make the most of that conversation, it can be helpful to prepare a few items in advance.
For instance:
- A food diary or journal showing all meals and snacks, including any middle-of-the-night eating habits
- Family photos and childhood photos demonstrating how you or your child has changed over time; growth charts may also be helpful
- A complete list of symptoms including those outside of weight and hunger (e.g., progressive hearing loss or vision loss)
Resources
Common questions
What are the reasons my doctor would order the test?+
Testing can provide important information for you and your doctor. This information can help inform a possible diagnosis, appropriate disease management and care options, and whether you may be eligible for clinical trials. It may also provide a sense of relief to better understand the cause of your obesity.
Who is eligible?+
To be eligible for testing, you must be 18 years of age or younger with a BMI of at least the 97th percentile, or 19 years of age or older with a BMI greater than 40 and a history of childhood obesity. You must also be located in Canada. Immediate family members of people who have previously been tested and people who have symptoms that suggest rare genetic diseases of obesity may also be eligible.
What is the sample collection process?+
Sample collection can be completed at your doctor’s office via an oral swab. You can also use an oral swab yourself from home if you prefer.
Who conducts the DNA testing?+
DNA testing is conducted by PreventionGenetics, a clinical laboratory.
How quickly will I receive results?+
Test results will be sent to your doctor approximately 3 weeks after the lab receives the sample and completed forms.
What support is available to me for results interpretation?+
- The Uncovering Rare Obesity™ program includes two optional, no-cost genetic counseling session with a licensed genetic counselor who can answer your questions before testing and review your results after testing. Interpretation is available for multiple languages.
- The session before the test helps to set expectations by discussing the possible risks and benefits of testing and reviewing possible results. The session after the test focuses on explaining your results and how they might impact your health. It also helps prepare you for conversations with your doctor about disease management. To schedule a phone or video appointment, email [email protected] or call 1-844-463-8474.
How is my personal information handled?+
As part of the testing program, your de-identified (all personal information removed) information will be shared with Rhythm to help better understand genetic causes of obesity.
You may also choose to share your identifiable health information with Rhythm so we can help determine your eligibility for clinical trials and research studies, and share educational information with you. By agreeing to participate in this genetic testing program, you are helping support research efforts now and in the future.
Who can I contact with questions?+
For questions about how to take the genetic test, please call PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
For questions about genetic counseling, please call Metis Genetics at 1-844-463-8474
For general questions, please email [email protected].
For medical questions, please speak with your doctor.