UMDF Pilot Genetic Testing Project

Thank you for your interest in The UMDF Pilot Genetic Testing Project. This program has been closed to new applications as April 13, 2022. Individuals already in the program will receive communication from Probably Genetic regarding status. For questions regarding the status of your submission, reach out to contact@probablygenetic.com.

As we evaluate the pilot program, we will continue to look at other opportunities to help shorten the pathway to diagnosis for mitochondrial disease. We highly encourage you to sign up for our patient registry, mitoSHARE, where you can receive all the latest research news and updates on important programming like clinical trials and genetic testing – all while using your data to help fuel mito research.

A Novel Approach to Genetic Testing

Traditionally, sponsored genetic testing programs are marketed to clinicians who then identify the best patient candidates to receive testing. But what if the clinician is not aware of the program or perhaps not even considering genetic testing? Through this pilot program UMDF aims to test a very different approach – use machine learning to identify the best undiagnosed patient candidates to receive testing based on information the patients themselves provide about their symptoms. By the end of the pilot phase we expect to be able to assess the effectiveness of this novel approach as a new means of diagnosing more mitochondrial disease patients. 

Uncovering a

Mitochondrial Disease Diagnosis

The journey to a correct diagnosis is one of the biggest challenges facing mitochondrial disease patients and families because many other conditions may have similar symptoms.

Shorten the Journey with a No-Cost Genetic Test

The UMDF Pilot Genetic Testing Project is a collaborative initiative to provide qualified candidates of all ages a complimentary genetic test. A genetic test is the quickest, most accurate way to confirm once and for all if you or a loved one has mitochondrial disease.

There are many benefits to having a confirmed genetic diagnosis of mitochondrial disease, including:

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Access to better medical care

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Starting the correct treatments and therapies

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Participating in clinical trials

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The comfort of knowing the precise nature of your disease

It is estimated that more than half of all mitochondrial disease patients don’t have a genetic diagnosis.

“We know the diagnostic journey for a mitochondrial disease patient is often long and difficult. By offering a no-cost genetic testing program, UMDF aims to shorten and simplify the journey for our patient community.”

Philip Yeske, PhD  • Science & Alliance Officer at UMDF

How Does the Process Work?

Every step is facilitated online with an easy-to-use testing kit delivered right to your doorstep. No doctor visits required! Here’s how it works:

Step 1

Complete brief survey of your symptoms to see if you are a testing candidate.

Step 2

Testing candidates complete intake questionnaire to confirm eligibility.

Step 3

Eligible candidates receive a testing kit by mail.

Step 4

Return testing kit and results will be shared with you and your doctor. 

Step 5

Genetic Counselor available to discuss testing results.

Did you know? A confirmed genetic diagnosis is typically required in order to participate in clinical trials, and without patients, clinical trials are delayed and progress toward treatments for mitochondrial disease is stalled.

Who Qualifies?

Our mission is to identify and diagnose as many patients as possible through The UMDF Pilot Genetic Testing Project, although funds are limited during the pilot phase. As a starting point, candidates should meet the following criteria:

– Must be a resident of the United States.

– Must never previously had whole exome or whole genome sequencing. This may be due to:

    • Cost
    • Health insurance
    • Access to tests

Do you think you might be a good candidate for the UMDF Pilot Genetic Testing Project? Get started now.

Important Program Information

  • UMDF is partnering with Probably Genetic to offer patients the opportunity to qualify for a whole exome sequence Genetic Test. In this pilot phase only nuclear DNA will be sequenced, meaning not all forms of mitochondrial disease may be diagnosed.
  • Not everyone who applies for no-cost genetic testing will be selected to receive genetic testing. Probably Genetic is singularly responsible for determining final eligibility for the program based on patient-provided information.
  • UMDF does not receive any identifiable information on who applies for or receives testing.
  • UMDF will receive aggregate de-identified genomic and symptom data to help advance research on mitochondrial disease.
  • Test availability limited during pilot phase.
  • For more information see FAQs below.
Working Together to

Fast-Track a Diagnosis

The UMDF Pilot Genetic Testing Project is possible due to the generous financial support of Zogenix in collaboration with Probably Genetic.

“Genetic tests to identify specific mitochondrial diseases are essential to timely diagnosis and care, and are often required for patients to enter clinical trials. At Zogenix, we are proud to partner with UMDF to improve diagnosis and treatment of mitochondrial diseases as part of our commitment to developing therapies with the potential to transform the lives of patients and families with rare diseases. Together we can bring hope and support to patients and families impacted by rare diseases.”

Stacey Harte
Vice President, Mitochondrial Disease Program Lead

General FAQs

Q: How can I participate in the pilot genetic testing program?

A: Visit the dedicated UMDF webpage for the Pilot Genetic Testing Program to check eligibility rules and to begin the application process.

 

Q: Can I participate in the Genetic Testing Program if I already have a confirmed genetic diagnosis of primary mitochondrial disease?

A: No. Only mitochondrial disease patients that have not previously had whole exome or whole genome sequencing qualify to partake in the Pilot Genetic Testing Program at this time. In order to ensure maximum benefit to the mitochondrial disease patient community, it is important that you answer all eligibility questions honestly and completely.

Q: Is the Pilot Genetic Testing Program free?

A: Yes. The Pilot Genetic Testing Program is free of charge. Simply complete the Symptom Tracker Survey and based on your responses you could qualify for a no-cost whole exome sequencing genetic test.

 

Q: Do I have to meet any pre-requisites to partake in the Pilot Genetic Testing Program?

A: Yes. To partake in the first part of the Pilot Genetic Testing Program, which is the Symptom Checker Survey, you are required to reside in the United States and not have had any previous whole exome or whole genome sequencing genetic testing.

Q: I have completed the pre-requisite questions. How do I proceed?

A: Once you have answered the pre-requisite questions, you will be directed to the Probably Genetic website to complete the Symptom Checker. Simply click “Get Started”!

Q: How long does it to complete the Pilot Genetic Testing Symptom Checker?

A: The process to complete the Pilot Genetic Testing Symptom Checker Survey should take less than 10 minutes of your time.

 

Q: What happens after I have completed the Symptom Checker?

A: Once you complete the Symptom Checker, your responses will be reviewed by Probably Genetic. If Probably Genetic determines your submission qualifies you to continue, you will be asked to complete an additional Intake Questionnaire.

Q: What does the Intake Questionnaire consist of?

A: The Probably Genetic Intake Questionnaire consists of collecting a variety of information regarding your medical background and family history to ensure that the free genetic test is right you.

 

Q: How long does the Intake Questionnaire take to complete?

A: If you qualify for your Intake Questionnaire, it will take 20-30 minutes to complete.

Q: If I can’t complete the Intake Questionnaire in one sitting, will it save my answers?

A: Yes. Whenever you click “Next”, the system will automatically save your submitted responses. Feel free to take a break and come back later to complete it.

 

Q: What happens after I complete the Intake Questionnaire?

A: The information you enter in the Intake Questionnaire will be reviewed by a board-certified genetic counselor and physician that is licensed in your state. The physician will use the information you submitted to determine if there is a medical necessity for the free genetic test. The genetic counselor may reach out to you, if they have additional questions. This is all free of charge to you.

Q: Can I track the status of my Intake Questionnaire?

A: Yes. You can track the status of your Intake Questionnaire on your Probably Genetic Dashboard. In addition to the dashboard, Probably Genetic will also be sending you status updates via email.

 

Q: I qualified for a free genetic test, what happens next?

A: Probably Genetic will send you a collection kit to your provided address. The collection kit will consist of a saliva kit and specific instructions on how to collect, store, and return the samples. Postage will be provided.

Q: I returned my sample - when can I expect to receive results?

A: The Probably Genetic dashboard is the best way to follow the status of your testing. Patients should expect that the entire process may require several months before results are ready to be shared. Program participants should not contact UMDF regarding status of testing as UMDF does not know who has applied or been selected to receive no-cost genetic testing. Instead, program participants should contact Probably Genetic at 844-778-7988 or contact@probablygenetic.com.

Technical Support FAQs

Q: Some of the questions have “None of these” highlighted red. Why is this option formatted differently than the other options available for selection?

A: Probably Genetic wanted to make sure that “None of these” was distinct in comparison to the other options available for selection. Just because it is highlighted red, does not mean it is the right response for you. It is highlighted red to stand out and make the reader aware that you are actively choosing that the “None of these” options apply to you. It is important that you read all options carefully and select only the one(s) that best apply to you.

Q: I made a mistake in selecting a response, can I go back and edit a response?

A: Yes. You can edit any response you would like along the way. However, once you click the Submit button at the end of the survey, all responses are recorded as final.

Q: Do I need to provide an e-mail at the end of the Genetic Testing Symptom Checker Survey?

A: Yes. An email is required upon completing the Symptom Checker. Probably Genetic will need a way to contact you if you qualify for the free genetic test. UMDF will not receive an applicant’s name or e-mail address.

Q: I live outside of the United States. Can I participate in the Pilot Genetic Testing Program?

A: No. The Pilot Genetic Testing Program is being offered to US residents only at this time.