Roth Sarah, Owczarzak Jill, Baker Kellan, Davidson Hannah, Jamal Leila
Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.
Center for Precision Health Research, NHGRI, NIH, Bethesda, Maryland, USA.
J Genet Couns. 2025 Feb;34(1):e1867. doi: 10.1002/jgc4.1867. Epub 2024 Feb 11.
Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling, where TGD individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for cisgender individuals. The experiences of TGD individuals navigating inherited cancer syndromes remain largely undocumented in medical literature, posing challenges to the provision of inclusive care by genetics providers. To bridge this knowledge gap, we conducted a cross-sectional qualitative study. Nineteen semi-structured interviews were held with gender diverse adults having hereditary cancer syndromes, family histories of such syndromes, or personal histories of chest cancer. Our study employed thematic analysis using combined inductive and deductive methods to illuminate how hereditary cancer care intersects with participants' gender identities, gender expression, and gender-affirming care experiences. Participants reflected on care experiences that felt affirming or triggered gender dysphoria. Participants also discussed the interplay between risk-reducing mastectomy and top surgery, exploring co-emergent dynamics between cancer risk management and gender expression. Significantly, participants identified actionable strategies for healthcare providers to enhance support for gender diverse patients, including the mindful use of gendered language, collaborative decision-making, and conveying allyship. These findings offer valuable insights into tailoring genetic counseling to meet the unique needs of TGD individuals, advancing the path toward inclusive and appropriate care for LGBTQI+ individuals with hereditary cancer syndromes.
跨性别者和性别多元者(TGD)在遗传咨询研究以及更广泛的 LGBTQI+ 健康研究中是一个重要但代表性不足的群体。这种代表性不足使他们持续被排除在医学知识的产生过程之外,影响了 TGD 个体所接受护理的质量和公平性。这个问题在癌症遗传咨询中尤为突出,在那里,癌症风险升高的 TGD 个体接受的风险评估、咨询以及基于为顺性别个体制定的风险数据和护理标准的支持转介。TGD 个体在应对遗传性癌症综合征方面的经历在医学文献中基本未被记载,这给遗传学提供者提供包容性护理带来了挑战。为了弥补这一知识差距,我们进行了一项横断面定性研究。我们对 19 名患有遗传性癌症综合征、有此类综合征家族史或有乳腺癌个人史的性别多元成年人进行了半结构化访谈。我们的研究采用了结合归纳法和演绎法的主题分析,以阐明遗传性癌症护理如何与参与者的性别认同、性别表达以及性别肯定护理经历相交织。参与者反思了那些让人感到肯定或引发性别焦虑的护理经历。参与者还讨论了降低风险的乳房切除术和胸部手术之间的相互作用,探讨了癌症风险管理与性别表达之间共同出现的动态关系。重要的是,参与者为医疗保健提供者确定了可采取行动的策略,以加强对性别多元患者的支持,包括谨慎使用性别化语言、共同决策以及表达同盟关系。这些发现为调整遗传咨询以满足 TGD 个体的独特需求提供了宝贵见解,推动了为患有遗传性癌症综合征的 LGBTQI+ 个体提供包容性和适当护理的进程。
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