Uncovering Rare Obesity genetic testing program

Uncovering Rare Obesity®

A no-charge, comprehensive genetic testing program for rare genetic diseases of obesity.

Uncovering Rare Obesity genetic testing program

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

MC4R pathway

Clinical guidelines recommend genetic testing to inform diagnosis and appropriate interventions in patients with early-onset, severe obesity and hyperphagia:3,4

MC4R pathway
Genetic testing eligibility checklist

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

BMI chart

To be eligible for testing through the Uncovering Rare Obesity program, patients must be located in the United States or its territories, AND:

≤18

years of age

≥19

years of age

with a BMI

≥97th

percentile

with a BMI

≥40

and a history of childhood obesity

or

An immediate family member of select, previously tested patients

or

Showing clinical symptoms which 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.

Program details

  • Testing done by laboratory partner

    Testing conducted by a laboratory partner

    DNA testing is conducted by PreventionGenetics, a CLIA-accredited clinical laboratory.

  • Gene panel

    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.

  • Sample collection options

    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.

  • Access test results

    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.

  • Result interpretation support

    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.
  • Geneticist support

    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).

  • Genetic counseling patient support

    Meaningful patient support

    For your patients, 2 sessions with licensed genetic counselors are available at no charge through our partner, PWNHealth, 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 gc@pwnhealth.com or call 1-888-494-7333 (Monday – Friday, 9am – 5pm ET) to schedule sessions.

Get started

  1. 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.
  2. Collect sample — download the Test Requisition Form and complete with patient information prior to the appointment if preferred. Collect the patient sample.
  3. 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.
  4. 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 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 ≥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 gc@pwnhealth.com or call 1-888-494-7333 (Monday – Friday from 9am – 5pm ET).

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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 5. Rhythm Pharmaceuticals. Advancing Setmelanotide to treat obesity due to genetic variants within the MC4R pathway. [Research and Development Presentation.] January 2021.

  6. 6. Rhythm Pharmaceuticals. Rhythm Pharmaceuticals targeting MC4R pathway and transforming the care of patients with rare genetic diseases of obesity. [Corporate Presentation.] May 2021.