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

描述(申请人提供)：大约10%的不孕/不育妇女被诊断为卵巢储备减少(DOR)。只有不到5%的DOR妇女会自发怀孕，她们对生育药物的反应不正常，而且没有治疗方法来扭转这种情况。我们机构的初步研究表明，大约5%的DOR妇女有脆性X基因(FRAX)的预突变改变。这项研究将使用解释现象学(即从研究参与者的角度研究人类经验的结构和意义)来了解n=8名DOR女性(4名FRAX携带者，4名非携带者)及其n=8名伴侣的生活经验。具体目标是：(1)被要求接受这种意想不到的基因检测的经历是什么，与有脆性X综合征儿童的家庭有什么不同？(2)当她得知自己是FRAX携带者时，与非携带者相比，她的经历是什么？(3)作为接受FRAX检测的女性的伴侣的经历是什么，这种经历因携带者身份的不同而有何不同？我们将对每个参与者进行3次访谈(在得知测试结果之前、之后1周内和之后3个月)。为了解读文本，我们将使用范例案例的叙事策略来理解整个采访文本，并进行主题分析来定位文本内部和文本之间的有意义的模式和关注。遗传咨询将提供给所有FRAX携带者，检测将是保密的。鉴于美国医学遗传学学会最近建议在DOR妇女中进行FRAX测试，在实施新建议之前有一个机会之窗，在此期间可以确定不孕症患者对FRAX测试的反应的关键信息。这些见解对妇产科的前线患者咨询将是无价的。我们预计，DOR女性对这一基因测试过程的反应将与脆性X综合征家庭截然不同。不孕不育的女性寻求生育帮助是因为她们渴望怀孕，而且不太可能有任何理由预测遗传病因。

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.