Uncovering Rare Obesity®
A no-charge, comprehensive genetic testing program for rare genetic diseases of obesity.
A no-charge, comprehensive genetic testing program for rare genetic diseases of obesity.
The program includes insights on nearly 80 genes and offers online test ordering, digital report access, and support for results interpretation.
Rhythm Pharmaceuticals covers the cost of the test and provides sample collection kits. Patients are responsible for office visit, sample collection, or other costs.
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
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 80 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
- Hyperphagia3
Approximately 5 million individuals in the US experience early-onset, severe obesity; a portion of these individuals’ symptoms may be due to genetic variants associated with MC4R pathway deficiencies.6
To be eligible for testing through the Uncovering Rare Obesity program, patients must be located in the United States or its territories, and be:
≤18
years of age
≥19
years of age
≥97th
percentile
≥40
and a history of childhood obesity
or
An immediate family member of select, previously tested patients
or
Showing clinical symptoms that suggest Bardet-Biedl syndrome, as the test may help provide additional evidence to support diagnosis
As the panel has expanded from 40 genes to 79 genes and 1 chromosome region, patients previously tested remain eligible and may benefit from retesting, as it could offer novel insight into their condition.
This is not a test for Prader-Willi syndrome.
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“When Tysen was three, he weighed fifty pounds. When Mike was three, he weighed eighty pounds.”
Joan, wife to Mike and mother to Tysen, both living with POMC heterozygous deficiency -
“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
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Testing conducted by a laboratory partner
DNA testing is conducted by PreventionGenetics, a CLIA-accredited clinical laboratory.
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Extensive panel offers broad insights
The gene panel includes 79 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.
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Multiple sample collection options
Collection kits are available for use in the office or to be sent to the patient’s home. Samples may be collected in-office via blood or OCD-100 buccal swabs. If preferred, OCD-100 buccal at-home kits are available to send directly to patients. Spanish-language materials are also available upon request.
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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.
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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
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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).
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Meaningful patient support
For your patients, 2 sessions with licensed genetic counselors are 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 support@metisgenetics.com or call 1-844-463-8474 to schedule sessions.
Get started
- Order kits — complete the form below to receive in-office sample collection kits. It may be helpful to order kits in advance and keep a few in your office. For all other kits, please login or register at PreventionGenetics.
- Collect sample — download 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.
For questions about ordering or to order by phone, please call PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
Resources
Resources for your patients
Here, your patients can find program information, consent forms, and counseling resources.
Common questions
What is the cost to my patients?
Rhythm Pharmaceuticals covers the cost of the test and supplies sample collection kits. Patients are responsible for any office visit, sample collection, or other costs your office may assess.
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 suggest Bardet-Biedl syndrome, as the test may help provide additional evidence to support diagnosis. All patients must be located in the United States or its territories.
Which genes are included on the panel?
The gene panel includes 79 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. Full gene panel
What if additional genes are discovered?
Rhythm Pharmaceuticals may contact you in the future if new information regarding relevant genes becomes available.
My patient has already been genetically tested through Uncovering Rare Obesity. Should they be tested again?
As the panel has now been expanded from 40 genes to 79 genes and 1 chromosome region, patients previously tested may benefit from retesting, as it could offer novel insight into their condition.
What is the sample collection process?
Sample collection can be completed at your office via blood and 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 the 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 support@metisgenetics.com 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 providers
- Support materials, including patient educational brochures
- Resources for healthcare providers to help determine possible interventions
- Convenient, 24/7 access to all materials
Where can I send my patients to learn more about rare genetic diseases of obesity?
Patients can learn more at LEADforRareObesity.com.
Whom can I contact with questions?
For questions, please call PreventionGenetics at 1-844-513-3994 (Monday – Friday, 9am – 8pm ET).
References
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1. 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.
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2. 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.
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3. 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.
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4. 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.
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5. Rhythm Pharmaceuticals. Advancing Setmelanotide to treat obesity due to genetic variants within the MC4R pathway. [Research and Development Presentation.] January 2021.
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6. Rhythm Pharmaceuticals. Rhythm Pharmaceuticals targeting MC4R pathway and transforming the care of patients with rare genetic diseases of obesity. [Corporate Presentation.] May 2021.