“How to read your genetic test report & ClinGen Data Sharing Program”

Speakers: Juliann Savatt, Clinical and Research Genetic Counselor at Geisinger, Laura Trutoiu, Ph.D., Director of Research at Association for Creatine Deficiencies, Sofia Balog, Patient Registry Coordinator at Association for Creatine Deficiencies.

Have you wondered about your child’s specific mutation of creatine deficiencies? Do you want to know what missense mutations are? Join ACD and ClinGen to learn about:

• How to read your genetic testing report

• How to participate in the ClinGen Data Sharing Program (CreatineInfo Registry)

Part 1: 

How to read your genetic test report

• Introduction to chromosomes, DNA, and genes
• Types of genetic changes (variants) –  missense, frameshift, nonsense
• Types of genetic testing
• Other common terms on testing reports – autosomal dominant, autosomal recessive, de novo, inherited, mosaic
• Examples of how to read your genetic testing report
• Q&A

Part 2:

ClinGen Data Sharing Program Opt-in

• Benefits of enrolling in data sharing as outlined in the CreatineInfo Registry consent form
• How to enroll in the program, if interested (Step by step)
• Sharing your genetic report with ACD and with ClinGen 
• Q&A