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Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

  September, 21 2005 8:27
your information resource in human molecular genetics
Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

Journal of Genetic Counseling (Vol. 14, No. 4; pp. 295-306)

Aimee Anido (1), Lisa M Carlson (2), Lisa Taft (1) and Stephanie L. Sherman (1, 3)

(1) Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
(2) Rollins School of Public Health, Emory University, Atlanta, Georgia
(3) Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Building, Suite 301, Atlanta, Georgia, 30322

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families.

We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.

Stephanie L. Sherman
Email: ssherman@genetics.emory.edu

Abstract available online.

(C) Journal of Genetic Counseling.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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