Singleton Alexandra L, Hipp Heather S, Ali Nadia, Poteet Bonnie, Allen Emily G
Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA, 30322, USA.
Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, GA, USA.
J Assist Reprod Genet. 2025 Feb;42(2):499-508. doi: 10.1007/s10815-024-03337-w. Epub 2024 Dec 6.
This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis. The objective of this study was to describe these gaps and explore demographic factors influencing FXPOI knowledge in women's healthcare practitioners.
A survey assessed familiarity with primary ovarian insufficiency and FXPOI knowledge among 107 women's healthcare providers and 14 medical students in the USA. Knowledge Scores, ranging from 0 to 16, were assigned, and demographic data, including healthcare provider type, specialty, and genetics exposure in education or training, were collected.
Participants scored an average of 6.92 (± 2.19) out of 16 (42%) despite 88% of participants reporting genetics exposure in training. Maternal fetal medicine (MFM) and reproductive endocrinology (REI) providers significantly outperformed general obstetrics and gynecology (OBGYN) practitioners (p = 0.0186 and 0.0125, respectively). Participants with a genetic counselor in their clinic scored 8% higher (p = 0.0083) than those without. Additionally, medical school graduation year was a significant predictor for knowledge score (p = 0.0397).
This study underscores limited FXPOI knowledge among women's healthcare providers, aligning with patient reports. Notably, medical specialty and the presence of a genetic counselor impacted knowledge, emphasizing the urgency for broader education in women's healthcare, particularly among OBGYNs, the initial point of contact for patients with POI symptoms.
本研究调查女性医疗服务提供者对脆性X相关原发性卵巢功能不全（FXPOI）的知识差距。先前的研究强调了对FXPOI作为原发性卵巢功能不全（POI）病因及其诊断缺乏认识。本研究的目的是描述这些差距，并探讨影响女性医疗从业者FXPOI知识的人口统计学因素。
一项调查评估了美国107名女性医疗服务提供者和14名医学生对原发性卵巢功能不全和FXPOI知识的熟悉程度。分配了从0到16的知识得分，并收集了人口统计学数据，包括医疗服务提供者类型、专业以及教育或培训中的遗传学接触情况。
尽管88%的参与者报告在培训中有遗传学接触，但参与者在16分中平均得分为6.92（±2.19）（42%）。母胎医学（MFM）和生殖内分泌学（REI）提供者的表现明显优于普通妇产科（OBGYN）从业者（分别为p = 0.0186和0.0125）。其诊所中有遗传咨询师的参与者得分比没有的高8%（p = 0.0083）。此外，医学院毕业年份是知识得分的一个重要预测因素（p = 0.0397）。
本研究强调了女性医疗服务提供者对FXPOI的知识有限，这与患者报告一致。值得注意的是，医学专业和遗传咨询师的存在影响了知识水平，这凸显了在女性医疗保健领域进行更广泛教育的紧迫性，特别是在妇产科医生中，他们是有POI症状患者的最初接触点。
