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Updated: May 16, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Patient care practices for LGBTQ+ individuals in clinical genetics: A scoping review
Kimberly Zayhowski1,2, Kayla Horowitz3, Molly Bostrom4
1Department of Obstetrics and Gynecology, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA.
Abstract:
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.
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