Learning from our patients: Utilizing the expertise of transgender and/or gender diverse educators to build an inclusive learning cycle

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.

Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”

Roth,

Owczarzak,

Baker

et al. 2024

Use of gender‐inclusive language in genetic counseling to optimize patient care

Motiff,

Garcia,

Zhao

et al. 2024

Providing welcoming, inclusive, and culturally competent care is essential for genetic counselors (GCs) to serve the needs of all patients, including transgender and nonbinary (TGNB) individuals. Inclusive language creates welcoming healthcare spaces and improves health outcomes for TGNB individuals. Training on gender‐affirming healthcare can increase knowledge, comfort, and self‐efficacy working with TGNB patients. Using a mixed‐method survey, this study assessed 65 GCs' gender‐inclusive communication practices and elucidated reasons for discomfort using language to determine how language builds trust and fosters patient–provider relationships, ascertain differences between specialties, and identify potential gaps in education and professional development. This study found that approximately one‐third of GCs are comfortable using gender‐inclusive language and just over half regularly use it with patients. Most GCs do not share their pronouns or ask patients theirs, which was not correlated with comfort levels or frequency of using gender‐inclusive language. There were no significant differences based on specialty. Thematic analysis of open responses revealed GCs used gendered language to promote shared language and for clarity, some mentioning sex assigned at birth was relevant for risk assessment. Most felt the impact of gendered language depended on the patient's perspective. Twenty‐five percent noted gendered language was familiar for most patients and 40% recognized negative impacts on TGNB individuals. Most GCs desired more gender‐inclusivity training even though >95% had some type previously. Those who had gender‐inclusivity training in their genetic counseling program were more comfortable using gender‐inclusive language and were more likely to share their pronouns with patients. This study adds to the growing body of literature demonstrating GCs' desire for more gender‐inclusivity education and highlights the potential importance of having this education integrated into genetic counseling training programs. GCs should continue to incorporate gender‐inclusive language into their practice in concordance with the tenants of the Reciprocal Engagement Model.

Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting

Burzynski,

Leonard,

Albrecht

et al. 2024

The introduction of cell‐free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor‐reported parental questions regarding sex, gender, and sexual orientation. Forty‐eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.