Fragile X Premutation Tests: Qualitative Study of Infertile Carriers/Partners

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DESCRIPTION (provided by applicant): About 10% of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR). Less than 5% of DOR women will become pregnant spontaneously, they do not respond normally to fertility drugs, and there are no treatments to reverse this condition. Preliminary research at our institution indicates that approximately 5% of DOR women have a premutation alteration of the fragile X gene ("FRAX"). This study will use interpretive phenomenology (i.e., the study of the structure and meaning of human experience from the perspective of the study participant) to learn about the lived experience of a cohort of n=8 DOR females (4 FRAX carriers, 4 non-carriers) who are referred for FRAX testing and their n=8 partners. The specific aims are: (1) What is the experience of being asked to undergo this unanticipated genetic test, and how is it different than that of families with a child with Fragile X Syndrome? (2) What is her experience when she learns that she is a FRAX carrier compared with the non-carriers? (3) What is the experience of being the partner of a woman who has been offered FRAX testing, and how does this vary by carrier status? We will conduct 3 interviews with each participant (before, within 1 week after, and 3 months after learning the test results). To interpret the text, we will use narrative strategies of paradigm cases to understand the interview transcript as a whole, and thematic analysis to locate meaningful patterns and concerns within and between texts. Genetic counseling will be provided to all FRAX carriers, and testing will be confidential. Given the recent recommendation by the American College of Medical Genetics for FRAX testing among DOR women, there is a window of opportunity prior to implementation of new recommendations during which critical information on the infertility patient's reactions to FRAX testing can be ascertained. Such insights will be invaluable to OB/GYN's in their frontline patient counseling. We anticipate that DOR women will react very differently to this genetic testing process than Fragile X Syndrome families. Infertile women seek fertility assistance because they desire pregnancy, and are unlikely to have any reason to anticipate a genetic etiology.