基于假设的BRCA1/2基因检测的性别确认胸部手术决策

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY
Taylor I. Gray, Joshua D. Safer, Leah Zaretsky
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引用次数: 0

摘要

为了使他们的身体与性别认同保持一致,跨性别和性别多样化的个体可能会选择进行性别确认的胸部男性化或女性化,这与推荐给BRCA1/2致病变异的标准乳房切除术不同。本研究旨在确定基因检测是否会揭示与乳腺癌终生风险显著升高相关的致病变异,从而影响胸部手术类型的决定。研究人员假设BRCA1/2致病变异携带者的状态会影响性别不同的个体选择更具侵入性的手术来解决增加的癌症风险。在26名没有胸部手术史的跨性别和性别多样化个体中,23.1%的人表示他们可能会根据阳性的基因检测结果选择更具侵入性的手术类型,而在17名有胸部重建史的个体中,52.9%的人表示基因检测不太可能改变他们的手术决策。这些结果表明,卫生保健提供者应该就性别确认胸部重建前基因检测的效用向变性患者提供咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Gender-affirming chest surgery decisions in response to hypothetical BRCA1/2 genetic testing

Gender-affirming chest surgery decisions in response to hypothetical BRCA1/2 genetic testing

To align their bodies with gender identity, transgender and gender-diverse individuals may elect to undergo gender-affirming chest masculinization or feminization, which is different from the standard mastectomy recommended to those with BRCA1/2 pathogenic variants. This study aimed to determine if genetic testing revealing a pathogenic variant associated with a significantly higher lifetime risk of breast cancer would influence decisions regarding chest surgery type. The investigators hypothesized that BRCA1/2 pathogenic variant carrier status would influence gender-diverse individuals to elect a more invasive surgery to address increased cancer risk. Of 26 transgender and gender-diverse individuals without a history of chest surgery, 23.1% stated they would likely elect a more invasive surgery type based on positive genetic testing results while, of 17 individuals with a previous history of chest reconstruction, 52.9% stated it was unlikely that genetic testing would have altered their surgical decision-making. These results suggest that health care providers should counsel transgender patients about the utility of genetic testing prior to gender-affirming chest reconstruction.

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来源期刊
Journal of Genetic Counseling
Journal of Genetic Counseling GENETICS & HEREDITY-
CiteScore
3.80
自引率
26.30%
发文量
113
审稿时长
6 months
期刊介绍: The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
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