26 Jan MyGene2
By Dr. Chong and Dr. Bamshad
After you’ve been evaluated by the UDN and received a genetic diagnosis or a candidate gene has been found, what comes next? Or, if a genetic diagnosis couldn’t be made, what can you do to increase your chance of eventually finding a diagnosis? The answer is to share your data using MyGene2 (https://www.mygene2.org), a resource for all UDN PEER families, no matter where in the diagnostic journey is your family.
MyGene2 is a public, searchable website developed for families with rare genetic conditions to easily and openly share health information (such as symptoms) and genetic data (such as candidate genes) with other families, care providers, and researchers. Specifically, families can create a profile (i.e., a Family profile) that can be shared with others and can also search for other families with the same condition or mutations in the same gene to share experiences and offer support. Care providers and researchers can share de-identified health and candidate gene/variant information on behalf of families with rare genetic conditions.
We created MyGene2 because decades of working with families with rare conditions convinced us that families often underestimate their ability to directly contribute to diagnosing their child and to scientific research into rare genetic conditions. Other websites for sharing health and genetic data are typically meant for use by expert clinicians and researchers while family-run pages often collect valuable information but can’t be easily discovered or searched. In contrast, MyGene2 family profiles are stored in one place, access is free, quick, and easy, and candidate genes are compared automatically for matches. Users with the same candidate gene are notified immediately, and these matches are publicly posted. By simply sharing information through MyGene2, a family is empowered to help diagnose their child’s condition and participate in the discovery of new genetic conditions and the genes underlying these conditions.
If your family is still seeking a diagnosis, if a candidate gene has been identified, or if the causal variant in your family has been found, you should consider creating sharing your information on MyGene2!
Take a look at our video for more information (https://youtu.be/zWM1bn9e4KU).