Zayhowski Kimberly, Horowitz Kayla, Bostrom Molly, Mittendorf Kathleen F, Kocher Megan, Austin Jehannine J, MacFarlane Ian M
Department of Obstetrics and Gynecology, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA.
Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA.
J Genet Couns. 2025 Jun;34(3):e70022. doi: 10.1002/jgc4.70022.
Individuals who are LGBTQ+ (Lesbian, Gay, Bisexual, Transgender, Queer/Questioning, and/or have a sexual orientations and/or gender identity beyond cisheteronormative conceptions) face systemic barriers to healthcare, leading to significant health inequities. To address these challenges, genetic providers must better understand and inclusively address LGBTQ+ patient needs. This scoping review aims to map the current landscape of genetic care practices and their inclusivity toward LGBTQ+ individuals. We conducted a systematic search of databases, including Ovid MEDLINE, PsycINFO, and Web of Science, identifying 65 relevant articles focused on LGBTQ+ patient experiences and care practices within genetic healthcare services. Our thematic analysis of the articles highlights three major themes: exclusionary clinical environments and tools, provider biases and educational needs, and patient-reported barriers in accessing genetic services. Many articles underscored the importance of inclusive language and criticized the conflation of sex, sex chromosomes, and gender. A significant focus was on cancer care for transgender and gender-diverse individuals, revealing a need for more data on the effects of gender-affirming care on cancer risk assessment. Moreover, genetic counselors often report insufficient training in LGBTQ+ health needs, contributing to biases and knowledge gaps. Despite increased awareness among providers of the need for inclusive care, LGBTQ+ patients encounter substantial barriers, including medical distrust and limited family health history, which may deter them from disclosing their identities due to the risk of discrimination. This review calls for standardized data collection practices regarding sex-related variables, gender modality, and sexual orientation, alongside specialized training programs for providers. By emphasizing critical areas for research, policy changes, and education, we aim to promote equitable, patient-centered genetic services for LGBTQ+ communities.
LGBTQ+（女同性恋、男同性恋、双性恋、跨性别者、酷儿/疑问者，和/或性取向和/或性别认同超出顺性异性恋规范概念的人）在获得医疗保健方面面临系统性障碍，导致严重的健康不平等。为应对这些挑战，基因服务提供者必须更好地理解并以包容的方式满足LGBTQ+患者的需求。本范围综述旨在梳理基因护理实践的现状及其对LGBTQ+个体的包容性。我们对包括Ovid MEDLINE、PsycINFO和科学网在内的数据库进行了系统检索，确定了65篇相关文章，这些文章聚焦于LGBTQ+患者在基因医疗服务中的经历和护理实践。我们对这些文章的主题分析突出了三个主要主题：排他性的临床环境和工具、提供者的偏见和教育需求，以及患者报告的获取基因服务的障碍。许多文章强调了包容性语言的重要性，并批评了将性别、性染色体和性别的概念混为一谈的做法。一个重要的关注点是为跨性别者和性别多样化个体提供的癌症护理，这表明需要更多关于性别肯定护理对癌症风险评估影响的数据。此外，基因咨询师经常报告在LGBTQ+健康需求方面的培训不足，这导致了偏见和知识差距。尽管医疗服务提供者对提供包容性护理的必要性的认识有所提高，但LGBTQ+患者仍面临重大障碍，包括对医疗的不信任和有限的家族健康史，这可能使他们因担心受到歧视而不敢透露自己的身份。本综述呼吁在与性别相关的变量、性别模式和性取向方面采用标准化的数据收集方法，同时为医疗服务提供者提供专门的培训项目。通过强调研究、政策变革和教育的关键领域，我们旨在为LGBTQ+群体促进公平、以患者为中心的基因服务。
