UMDF Pilot Genetic Testing Project
UPDATE 1/6/23: UMDF has launched a new no-cost genetic testing program. Click here for more information.
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.
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.
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:
Access to better medical care
Starting the correct treatments and therapies
Participating in clinical trials
The comfort of knowing the precise nature of your disease
“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.”
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.
- For general program questions, contact diagnosis@umdf.org
- For questions regarding the status of your submission, reach out to contact@probablygenetic.com.
Fast-Track a Diagnosis
The UMDF Pilot Genetic Testing Project is possible due to the generous financial support of UCB 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 UCB, 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
