Conference Presentation

Enabling Choices: Navigating Genetic Counseling and Reproductive Options for Individuals with an FMR1 Mutation

July 17, 2025

01 h 14 m

Genetic counselor Susan Howell explains how to help self-advocates and siblings understand genetic results, associated reproductive implications, and the landscape of reproductive options. This session aims to help self-advocates and siblings understand genetic results, associated reproductive implications, and the landscape of reproductive options.

About the Presentation

With Susan Howell
Learn more about the presenters

Genetic counselors commonly educate individuals and siblings regarding personalized health and reproductive risks, including family planning options. Genetic counseling for reproductive risks is tailored to the mutation status of the individual, beginning with informed consent for testing, followed by supporting understanding of test results, personalized risk for FXPOI, applicability of AGG results, risks for full mutation in the next generation, and FMR1 phenotypes. Genetic counseling for reproductive options honors reproductive autonomy by reviewing all reproductive options, with further discussions guided by patient-led informed interviewing.

About the Presenter

Susan Howell

Susan Howell

Denver Fragile X Clinic
Genetic Counselor and Clinic Coordinator

Susan Howell, MS, CGC, MBA, has been the genetic counselor and clinic coordinator for the Denver Fragile X Clinic alongside Dr. Nicole Tartaglia since 2008. She co-authored the genetic counseling consensus document for the NFXF and has worked on numerous clinical trials in Fragile X. She has been an active member of the Fragile X Clinics & Research Consortium. She has served as a volunteer board member for the NFXF since 2023.

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