“People Don't Even Know to Test for It”: Fragile X Community Views on Fragile X Testing, Guidelines, and Impacts
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Authors
Devalkar, Mugdha
Bratbo, Maysen
Issue Date
2023-05-01
Type
thesis_closed
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Keywords
Fragile X , carrier screening , community views , testing guidelines , IVF , Medical Genetics
Alternative Title
Human Genetics Theses
Abstract
This study explored the view’s of the Fragile X (FX) community on including FX testing in carrier screening, how testing impacts their community, and what factors they feel should be considered when creating FX testing guidelines. The anonymous online survey was distributed through FX organizations and social media. 30 participant responses met inclusion criteria for data analysis. Over 80% of participants self-identified as premutation carriers for Fragile X syndrome (FXS). Most participants reported that they would have preferred learning their FX status through routine care before or during pregnancy. FX testing was not offered to all participants before or during pregnancy. Of those who were offered testing, 87% opted to pursue it. When asked why this information was important to them, responses generated four key themes: 1) Reproductive selection, 2) Against reproductive selection, 3) Information to improve outcomes for children, and 4) Information to improve outcomes for carriers. When asked what they feel is important for medical professionals to consider when creating guidelines for FX testing, participants’ responses generated three key themes: 1) Need for education amongst medical professionals, 2) Timing of diagnosis, and 3) Financial burden. In contrast with current ACOG guidelines, we found widespread desire for FX testing as part of routine carrier screening. Additionally, our data suggests the FX community feels healthcare providers are not sufficiently knowledgeable about FX. Results of this study suggest the importance of involving the FX community in decisions surrounding FX testing with the hope of improving outcomes for those affected by FXS and Fragile X premutation associated conditions (FXPAC).
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