UNCOVERING RARE OBESITYTM
A sponsored, no-charge genetic testing program for rare genetic diseases of obesity.
The program includes insights on 87 genes and offers online test ordering, digital report access, and support for results interpretation.
Patients are responsible for office visits and may be responsible for sample collection.
Understanding a root cause of obesity
Some forms of obesity are caused by genetic variants in the MC4R pathway, a key neurosignaling pathway in the hypothalamus responsible for regulating hunger. Impaired signaling caused by these genetic variants can lead to early-onset, severe obesity and hyperphagia, irrespective of environmental and lifestyle factors.1,2
Clinical guidelines recommend genetic testing to inform diagnosis and appropriate interventions in patients with early-onset, severe obesity and hyperphagia:3,4
For more information on general guidelines regarding genetic testing:
Genetic testing can aid in diagnosis
Genetic testing can help you and your patients understand a primary cause of their obesity by identifying relevant genetic variants. This knowledge can inform:
- Possible diagnosis
- Appropriate disease management options
- Potential eligibility for clinical studies
Patients and families often gain a great sense of relief in knowing there is an underlying cause of their obesity unrelated to environmental and lifestyle factors
Connecting the dots: Revealing rare obesity in your practice
More than 85 genes associated with obesity have been identified to date. Of these genes, multiple genetic variants lead to MC4R pathway deficiencies.5
Clinical presentation can vary. Common symptoms include:
- Early-onset, severe obesity (rapid weight gain early in childhood with a BMI greater than the 95th percentile for their age)3,6
- Hyperphagia3,6
Genetic obesity is often associated with early-onset obesity and insatiable hunger.7 Rare genetic variants associated with MC4R pathway deficiencies may account for 2-3% of obesity in children and adults.7
The gene panel includes 87 genes and 1 chromosome region, reflective of nearly all of the most frequently tested genes associated with obesity.
To be eligible for testing through the Uncovering Rare Obesity™ program, patients must be located in Canada, and be:
The gene panel includes 87 genes and 1 chromosome region, reflective of nearly all of the most frequently tested genes associated with obesity. This is not a test for Prader-Willi syndrome.
“Having a genetic test gave us answers. Drake’s diagnosis helped us understand that his challenges weren’t our fault, and they weren’t Drake’s fault.”
Denise, mother to Drake and Everett, both living with a rare genetic disease of obesity
“I think the biggest thing is the constant hunger issue.”
Olivia, mother to Adalissa and Solomon, both living with Bardet-Biedl syndrome
Program details
Testing conducted by a laboratory partner
DNA testing is conducted by PreventionGenetics, a CLIA-accredited clinical laboratory.
Extensive panel offers broad insights
The gene panel includes 87 genes and 1 chromosome region, reflective of nearly all of the most frequently tested genes associated with obesity. This is not a test for Prader-Willi syndrome.
Sample collection options
Collection kits are available for use in the doctor’s office or to be sent to the patient’s home. Samples may be collected in-office or at home using OCD-100 buccal swabs. French-language materials are also available upon request.
Easy access to test results
Test results will be available online and sent to you approximately 3 weeks after the lab receives the sample and completed forms.
Tailored support for result interpretation
The program provides you with access to a geneticist to help interpret results, as well as licensed genetic counselors for your patients. Services are provided through third-party partners.
Resources to support results interpretation
The Uncovering Rare Obesity™ program includes access to a suite of resources throughout the process for both you and your patients. All services are offered through third-party partners.
Expert insight, at your fingertips
Once you receive test results, a geneticist is on hand to help you interpret gene findings and answer any questions regarding results.
For assistance, please contact PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
Meaningful patient support
The program includes an option for 2 sessions for patients with licensed genetic counsellors available at no charge through our partner, Metis Genetics, to provide guidance on the potential impact of genetic testing and to answer questions regarding results. Interpretation is available for multiple languages.
Patients may email [email protected] or call 1-844-463-8474 to schedule sessions.
Get started
-
Order Kits
To order test kits please login or register at PreventionGenetics. It may be helpful to order kits in advance and keep a few in your office.
-
Collect Sample
Fill out the Test Requisition Form and complete with patient information prior to the appointment if preferred. Collect the patient sample.
-
Submit Test
Click Online Test Submission to access the PreventionGenetics website and click Submit Test. Enter the patient information, submit, and print the form with the barcode. Have the patient sign where appropriate. Insert the barcode form, signed forms, and patient sample into the test box and return using the shipping bag and label provided.
Note: All signatures must be wet signatures.
-
Track test status and view results
Once you’ve mailed back the patient sample, click Get Results at the top of this webpage to login at PreventionGenetics. Navigate to Test Status to track the status of the submitted test or to Reports to view the results once the report is complete.
Resources
Resources for your patients
Here, your patients can find program information, consent forms, and counselling resources.
Common questions
Why test?+
The Uncovering Rare Obesity™ program could provide insight that may help inform possible diagnoses and disease management options. Certain genetic variants may also be eligible for clinical studies. Patients and families often gain a great sense of relief knowing there is an underlying cause to their obesity unrelated to environmental and lifestyle factors.
What are the eligibility criteria?+
Patients must be ≤18 years of age with a BMI in the ≥97th percentile or ≥19 years of age with a BMI ≥40 and have a history of early-onset, severe obesity. Patients who do not meet these criteria are eligible for testing if they are an immediate family member of a select, previously tested patient and/or their clinical symptoms of rare genetic diseases of obesity, as the test may help provide additional evidence to support diagnosis. All patients must be located in Canada.
Which genes are included on the panel?+
The gene panel includes 87 genes and 1 chromosome region and reflects recent gene identification. It now includes nearly all of the most frequently tested genes associated with obesity. This is not a test for Prader-Willi syndrome.
What is the sample collection process?+
Sample collection can be completed at your office via OCD-100 buccal kits. OCD buccal kits may also be used by patients for at-home sample collection as needed.
Test results will be available online and sent to your office approximately 3 weeks after the lab receives the sample and completed forms.
Who conducts DNA testing?+
DNA testing is conducted by PreventionGenetics, a CLIA-accredited clinical laboratory.
How quickly will I receive results?+
Test results will be available online and sent to your office approximately 3 weeks after the lab receives the sample and completed forms.
What support is available for results interpretation?+
Once you receive test results, geneticists are ready to help you interpret gene findings and answer any questions regarding results. To speak with a geneticist, please contact PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
What support is available for my patients?+
Licensed, board-certified genetic counselors are available to provide your patients with both pre- and post-test complimentary genetic counseling. Pre-test genetic counseling helps to set expectations by discussing the risks, benefits, and limitations of the testing and reviewing possible test results. Post-test genetic counseling focuses on a patient-friendly explanation of the results and their implications for your patient’s health and prepares your patient for their conversation with you around medical management options. To schedule a phone or video appointment, patients may email [email protected] (opens in new tab) or call 1-844-463-8474.
What online support is available?+
The program is designed to be simple and easy to integrate. It includes:
- Comprehensive online ordering and results portal for healthcare professionals
- Support materials, including patient educational brochures
- Resources for healthcare providers to help determine possible interventions
- Convenient, 24/7 access to all materials
Whom can I contact with questions?+
For questions, please call PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
References
- Huvenne H, Duberne B, Clément K, Poitou C. Rare genetic forms of obesity: clinical approach and current treatments in 2016. Obes Facts. 2016;9(3):158-173.
- Ellacott KL, Cone RD. The role of the central melanocortin system in the regulation of food intake and energy homeostasis: lessons from mouse models. Philos Trans R Soc Land B Biol Sci. 2006;361(1471):1265-1274.
- Styne DM, Arslanian SA, Connor EL, et al. Pediatric obesity – assessment, treatment, and prevention: An Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2017:102(3);709-757.
- Endocrine Society. Endocrine Society Experts Issue Clinical Practice Guideline on Pediatric Obesity. Published January 30, 2017. Accessed June 21, 2021. https://www.endocrine.org/news-and-advocacy/news-room/2017/endocrine-society-experts-issue-clinical-practice-guideline-on-pediatric-obesity
- Rhythm Pharmaceuticals Data on File, 2022.
- Lau et al. 2006 Canadian clinical practice guidelines on the management and prevention of obesity in adults and children. CMAJ 2007;176(8 suppl):Online-1–117 )
- Haqq AM et al. The Complexity and Stigma of Pediatric Obesity. Child Obes. 2021;17(4):229-240.