Monogenic and Polygenic Risk Prediction for Individuals
MyOme Inc. is a health technology company focused on using genetic testing to help people understand their health risks before problems start. In this study, MyOme is testing a new type of genetic technology called Long-Read Whole Genome Sequencing — as a way to identify certain types of ataxias and other hard-to-test conditions.
The goal of this study is to improve and confirm how well MyOme’s tools can find certain health conditions that may run in families or appear later in life. By studying the full genetic code from individuals with known diagnoses, MyOme hopes to make their tests more accurate and helpful for doctors, patients, and families in the future.
This study is part of MyOme’s larger mission: to give people clearer, more complete information about their health through cutting-edge genetic science.
Link to Enroll: Participants can email clinical@myome.com with the Subject Line: Research participant inquiry
Disclaimer: This research opportunity is not affiliated with NAF. We are sharing this information as a resource for the Ataxia community. Sharing this information does not imply endorsement by NAF.
About the Study
Eligible Ataxia Types
Triplet repeat associated ataxias
Type of Study
Research Study
Clinical Trial Phase
N/A
Age Range
Adult 18+
Study Start Date
08/07/2020
Estimated Completion Date
01/01/2060
IRB Approval #
WCG IRB Protocol #20202027
Location(s)
MyOme, Inc
535 Middlefield Rd, Ste 170
Menlo Park, CA
Contact Information
Maria-Renee Coldagelli
maria-renee@myome.com
708-953-9170
Lindsay Meyers
lindsay.meyers@myome.com
What does participation in the study entail?
If you choose to take part in this study, you will first speak with a MyOme Genetics Professional, who will explain the study, answer your questions, and guide you through the informed consent process. If you decide to participate, you will sign a consent form saying you agree to take part in the study and allow your sample and data to be used for research and future test development by MyOme.
After giving your consent, you will provide a sample of your DNA through a blood sample. A blood self-collection kit will be mailed to your home so you can collect the sample yourself. MyOme offers an easy, low-pain at-home collection option using the Tasso kit — a small device that collects blood from your upper arm without using a traditional needle. You can learn more about the Tasso kit here (https://www.tassoinc.com/). If you prefer, we can also arrange for a trained professional to draw your blood in person.
Once you’ve collected your sample, you’ll return it to MyOme using a pre-paid FedEx label provided in the kit. We ask that you send it back within 24 hours of collecting it.
After your sample is received, it will be sent to a clinical lab for genetic testing, including whole genome sequencing. Your DNA will be analyzed to help improve MyOme’s genetic testing tools. All of your data will be stored on HIPAA-secure servers, and only approved MyOme staff working on the study will be able to access it.
What are the potential benefits for participants?
Eligible participants will be provided a gift card of $100 upon receipt of blood sample.
You may or may not personally benefit from participation in this study when results are received. If successful, this study will produce data that will validate a new and more effective testing protocol so that it can be broadly offered to patients in the future.
What are the potential risks for participants?
Participating in this study is associated with the following risks.
- The risk of learning unexpected and possibly upsetting genetic information, either involving a disease or a trait involving you or your family members. This includes psychological, emotional, and social risks
- Economic risks: There are no costs associated for you to participate in this study. However, subsequent follow-up testing that your physician deems necessary after participating in this study is not covered under this study.
- Physical risk includes the risk of a blood draw and potential bruising of the skin, pain, lightheadedness, or, on rare occasions, infection
- The risk of misdiagnosis: the experimental approach used in predicting risk carries a risk of misdiagnosis. This technology carries the risk of inaccurate results.
- A risk of a “no result”, “partial result”, or a low confidence result outcome: Because this testing process includes a new technology, it is considered experimental and there is a chance that the test will produce no results, partial results, or results that have low confidence. One of the study’s goals is the accuracy of determining genetic testing, including but not limited to, whole genome information.
- There is a risk of loss of confidentiality.
There may be risks associated with your participation that are currently unknown.
Is there financial compensation?
Yes. $100.
Is there travel reimbursement?
No.
Who is eligible?
To take part in this study, individuals must have a confirmed genetic diagnosis of certain rare conditions. People can either provide a copy of their past genetic test results or give permission for the study team to contact their doctor or clinic to get those results.
We are currently looking for individuals who have been diagnosed with one of the following conditions:
- Dentatorubral-pallidoluysian atrophy (ATN1 gene)
- SCA1 (ATXN1 gene)
- SCA2 (ATXN2 gene)
- SCA3 (ATXN3 gene)
- SCA7 (ATXN7 gene)
- SCA6 (CACNA1A gene)
- SCA12 (PPP2R2B gene)
- SCA17 (TBP gene)
- SCA8 (ATXN8OS gene)
- SCA27B (FGF14 gene)
- Friedreich ataxia (FXN gene)
- Glutaminase deficiency with ataxia and developmental concerns (GLS gene)
- SCA4 (ZFHX3 gene)
- SCA10 (ATXN10 gene)
- SCA36 (NOP56 gene)
Additional Information or Resources
Link to Enroll: Participants can email clinical@myome.com with the Subject Line: Research participant inquiry
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