Experiences of Hereditary Cancer Care Among Transgender and Gender Diverse People: “It’s gender. It’s cancer risk…it’s everything.”

Abstract

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.

1. INTRODUCTION

In the United States, approximately 1.6% of adults identify as transgender, nonbinary, or gender diverse (TGD), including 5.1% of young adults (Brown, 2022; Flores et al., 2016; Rider et al., 2018). The recognition of TGD identities reflects that gender identity and expression exist across a multidimensional spectrum. “Gender diverse” describes people whose gender identity or expression vary from societal norms; gender diverse expressions and identities are an aspect of normal development. “Transgender” individuals are a subset of gender diverse people whose gender identity differs from their birth-assigned gender (National LGBTQIA+ Health Education Center, 2020). This paper uses “gender diverse” or “TGD” as umbrella terms to refer to transgender and other gender diverse people. Transgender men are people who were “assigned female at birth” [AFAB] and identify as male. “Nonbinary,” “genderfluid,” “genderqueer,” and “agender” individuals are TGD people whose gender identities fall outside the gender binary structure. They may identify with a mix of gender identities, fluidly between gender identities, or with no gender at all (Richards et al., 2016). Nonbinary people make up nearly 35% of the TGD population (Call et al., 2021).

As gender diverse communities become increasingly visible, they are being seen more often by genetic counselors, who have expressed an interest in providing inclusive and compassionate care for TGD people (Berro et al., 2020; Zayhowski et al., 2019). Yet, TGD individuals are underrepresented in genetic counseling research and in research on LGBTQI+ health more broadly (Glessner et al., 2012; Heng et al., 2018; McCann & Brown, 2018; Pritchard et al., 2018). This lack of representation in research creates a cycle of exclusion from the production of medical knowledge, which in turn affects the quality and equity of care received by gender diverse people (Cameron & Stinson, 2019; Collin et al., 2016). This cycle is particularly significant in the field of cancer genetic counseling, where gender diverse individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for presumed cisgender individuals (Berliner et al., 2021; Hodan et al., 2023; Sutherland et al., 2020; von Vaupel-Klein & Walsh, 2021).

Broadly, TGD individuals face discrimination in medical settings and widespread disparities in health outcomes, including morbidity and mortality related to cancer (Cretella et al., 2019; James et al., 2016; Krishnakumar, 2021; White Hughto et al., 2015). Research has shown that TGD individuals often face a lack of access to gender-affirming care, misgendering and deadnaming (use of a previous or birth name), and provider bias and ignorance regarding TGD health needs (Bauer, 2014; Deutsch, 2017). Stigma and discrimination against TGD individuals are associated with lower access to preventative care and lower use of cancer screening, which, in turn, are associated with additional poor health outcomes (Sutherland et al., 2020).

Within the realm of cancer, and especially breast cancer, normative ideas and representations of the gendered body abound (Gibbon, 2007; Jain, 2007; Sedgwick, 1992). Anthropologist Lochlann Jain, in an ethnography of cancer care, describes how a “redoubling of femininity” permeates the entire biomedical complex of cancer treatments, from pink recovery pamphlets to ‘Look Good, Feel Better’ classes promoting the use of cosmetics during chemotherapy (Jain, 2007). Barbara Ehrenreich has extensively discussed the challenges of navigating the ‘pink kitsch’ of breast cancer culture (Ehrenreich, 2001). These gendered discourses exert a powerful influence on the institutions, technologies, and practices that comprise the U.S. healthcare system.

How gender diverse individuals with inherited cancer syndromes navigate the clinical and everyday challenges associated with their diagnoses is largely unknown to genetics providers. Only 24% of genetic counselors report having received specialized training in inclusive care of TGD patients, and up to half of transgender and non-binary individuals report having to educate their medical providers about transgender health; further, cancer genetic counselors report feeling unprepared for sessions with TGD clients (Berro et al., 2020; James et al., 2016; Zayhowski et al., 2019). Studies of genetic counselors have found that counselors tend to have an implicit preference for heterosexual individuals, often feel unprepared for working with TGD individuals, and can be uncomfortable using gender-inclusive language with TGD patients (Berro et al., 2020; Nathan et al., 2019). The inability to provide inclusive care for TGD individuals is compounded by a lack of specialized training for providers, legal barriers to gender-affirming care in the United States, and gaps in institutional resources dedicated to care for this population. For TGD individuals, these biases can result in navigating systems of care that cater to the needs of cisgender individuals; experiencing anticipatory anxiety in healthcare settings; and navigating uncertainty when cancer risk management recommendations and gender-affirming interventions have mutual, and sometimes conflicting, implications informed by scarce data (Rolle et al., 2022).

For transgender and non-binary individuals who receive gender-affirming medical care, cancer risk assessment takes place within a complex social and medical context. A diagnosis of hereditary breast and ovarian cancer syndrome, involving the genetic diagnosis of a BRCA1/2 pathogenic variant, confers elevated lifetime risk of breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. Lynch Syndrome, most commonly involving a pathogenic variant in MLH1, MSH2/6, or PMS2, also predisposes individuals to a range of cancers, including colorectal cancer and endometrial cancer. Guidelines for medical management of these hereditary cancer syndromes include increased surveillance starting at age 20–25, as well as preventative measures such as surgery or chemoprevention (National Comprehensive Cancer Network, 2022). Those with a strong family history of breast, colorectal, ovarian, or pancreatic cancer are also encouraged to consider early, increased surveillance.

In response to calls for guidelines which acknowledge trans and non-binary individuals, the National Comprehensive Cancer Network recently published guidelines for cancer risk reduction strategies for TGD individuals with hereditary cancer syndromes (Daly, Pal, Maxwell, et al., 2023). The guidelines highlight several considerations for providers working with TGD individuals living with hereditary cancer syndromes. First, the guidelines note that several facets of health history are associated with magnitude of cancer risk, including “status of decision regarding transition”; age of transition; use, dosage, and duration of any gender-affirming hormones; types of any gender-affirming surgeries; and presence of any additional risk factors, such as family history (Daly, Pal, Maxwell, et al., 2023). Second, NCCN suggests that providers discuss organs at risk based on sex assigned at birth, thus highlighting special considerations for hereditary risks related to cancers in gendered organs, such as hereditary breast and ovarian cancer (Bedrick et al., 2021). Guidelines for TGD individuals with Lynch Syndrome have yet to be developed (Hodan et al., 2023). However, the NCCN guidelines also recognize a lack of prospective data on prevention and screening options for TGD individuals, and thus recommend approaching risk management in an individualized or ‘case by case’ manner. Cancer genetic counselors use practice guidelines in caring for TGD individuals, but a recent NSGC practice resource, written to guide genetic counseling for hereditary cancer syndromes, is clear: the available risk and prevalence figures “are based on cisgender women and men; the risks for transgender or non-binary individuals have not been studied and therefore remain poorly understood” (Berliner et al., 2021). This is further exacerbated by the fact that, as the NCCN guidelines acknowledge, most electronic health data fail to collect reported gender identity, which consequently limits the availability of health data on TGD individuals (Daly, Pal, Berry, et al., 2023).

Gender-affirming care for gender diverse individuals can include both medical and non-medical interventions, and results in improved mental health outcomes (de Vries et al., 2014; Olson et al., 2016). Gender-affirming interventions can include puberty blockers; masculinizing and feminizing hormone therapies; and surgical procedures such as top surgery, bottom surgery, and facial feminization; and uses of devices such as binders and gaffs. The most common gender-affirming surgery is top surgery, or totally reduction mammoplasty (Dowshen & McKenna, 2021). Top surgery differs from a risk-reducing bilateral mastectomy in that top surgery typically leaves some chest tissue behind, while a risk-reducing mastectomy leaves no chest tissue behind. Risk-reducing mastectomy is often seen as less aesthetically appealing and requires additional plastic surgery to avoid a concave shape. For transgender men with hereditary cancer risk who have top surgery, residual chest tissue can still lead to increased risk of cancer; the current recommendation for trans men with hereditary cancer risk is to have a risk-reducing mastectomy, followed by additional surgeries to achieve a preferred appearance (Dowshen & McKenna, 2021).

While hormone-related cancer risks have been well-studied in cisgender populations, little data exists for gender diverse individuals receiving gender-affirming hormone therapy over time, and no data exists for gender diverse individuals with hereditary cancer syndromes (Brown & Jones, 2014; Chlebowski et al., 2015; Gooren et al., 2013). While cancer risks relating to gender-affirming hormone therapies are likely significant, they are presently uncertain and will evolve as additional research is performed (Sutherland et al., 2020). Meanwhile, gender-affirming surgical interventions often reduce cancer risk, but variably (Finch et al., 2014; Hartman et al., 1999; Kotsopoulos et al., 2016; Meijers-Heijboer et al., 2001; Rebbeck et al., 2009). Overall, for genetic counselors, scarce and conflicting guidelines exist regarding how to provide genetic counseling to gender diverse individuals with lifetime heightened cancer risks who receive gender-affirming interventions (Colebunders et al., 2014; Corman et al., 2016; Nelson, 1996; Pivo et al., 2017; Sacca et al., 2019; Yale Smilow Center, 2020a, 2020b). A lack of available data translates into uncertainties for gender diverse individuals and the genetic counselors who work with them. Berro et al. (2020) and Zayhowski et al. (2019) have explored cancer genetic counselors’ perceptions of these uncertainties; that said, only one study has yet to include TGD individuals themselves as interlocutors, and it focuses specifically on patient perceptions of the genetic counseling encounter (Rolle et al., 2022).

The overall aim of this study was to gain an understanding of the lived experiences, care trajectories, and unmet needs of TGD people with hereditary cancer syndromes. Through this cross-sectional, exploratory study, we explored the lived experiences of gender diverse individuals with hereditary risk of cancer, focusing on how TGD identity affects individuals’ perceptions and experiences of cancer risk management. Specifically, we asked how TGD people navigate the intersecting fields of gender-affirming care and hereditary cancer care. Through better understanding TGD experiences of care, clinicians can provide inclusive and compassionate care for this population.

2. METHODS

This study was reviewed and approved by the institutional review board at Johns Hopkins Bloomberg School of Public Health. This cross-sectional, qualitative study used in-depth interviews to explore participants’ care experiences and narratives of those experiences.

2.1. Positionality

The study team included three LGBTQI+ individuals, including one individual who is transgender and another who carries a BRCA1 pathogenic variant. Three members of the study team possessed expertise in qualitative research, including two anthropologists and one bioethicist. Moreover, three members of the study team had expertise in clinical genetics, including one cancer genetic counselor and two genetic counseling trainees.

2.2. Participants

We interviewed transgender or nonbinary individuals with a diagnosis of hereditary breast and ovarian cancer syndrome; a genetic diagnosis of a high-risk cancer gene, such as PALB2, TP53, RAD51C, RAD51D, PTEN, or CDH1; or who had a clinically significant personal or family history of breast, ovarian, or pancreatic cancer that met National Comprehensive Network criteria for genetic testing (National Comprehensive Cancer Network, 2022). Individuals who were under 18 years of age were excluded. Participant characteristics are summarized in Table 1.

Table 1.

Characteristics of Study Participants (n = 19)

	Pseudonym	Pronouns	Genetic Dx	Gender Identity	Sex	Age	Race/Ethnicity
1	Frankie	They/he	MSH2 & ATM	Nonbinary, Transmasculine	AFAB	25–39	White
2	Jax	They/them	BRCA1	Nonbinary	AFAB	40–60	White
3	Ben	He/him	BRCA2	Nonbinary, Transmasculine	AFAB	18–24	White
4	Zoe	She/they	BRCA1	Nonbinary	AFAB	40–60	White
5	Jay	She/they	BRCA1	Nonbinary	AFAB	25–39	White
6	Shawn	She/they	N/A, breast cancer survivor	Nonbinary	AFAB	25–29	Latinx/e or Latin American
7	Petra	She/they	BRCA2	Nonbinary	AFAB	25–29	White
8	Charlie	They/he	L2TR1 & HOXB13	Nonbinary, Transmasculine	AFAB	25–29	White
9	Wes	They/them	MSH2	Nonbinary, Trans	AFAB	25–39	White
10	Avery	They/them	Unknown, parent has BRCA2	Nonbinary	AFAB	25–39	White
11	Jenny	They/them	BRCA2	Nonbinary	AFAB	18–24	White
12	Billy	He/it	BRCA1	Nonbinary	AFAB	18–24	White
13	Mark	He/him	TP53	Transgender Male	AFAB	25–39	Black or African American
14	Jason	They/them	BRCA2	Nonbinary	AMAB	Over 60	White
15	Austin	He/him	BRCA1	Transgender Male	AFAB	18–24	White
16	Blaine	He/they	BRCA2	Nonbinary, Transmasculine	AFAB	25–39	White
17	Gray	She/they	BRCA2	Nonbinary	AFAB	40–60	White
18	A.J.	She/they	BRCA2	Nonbinary	AFAB	Over 60	White
19	Fern	They/he	BRCA1	Nonbinary, Transmasculine	AFAB	25–39	White

2.3. Procedures

Participants were recruited through a stratified purposeful sampling approach, which is typically used to “identify and select information-rich cases relevant to the phenomenon of interest” with an eye for variations within the sample in terms of gender identity and genetic diagnosis ascertained through a sampling survey (Palinkas et al., 2013; See Supplemental Figure 1 for screening questionnaire).

Recruitment took place primarily through national advocacy organizations working with the hereditary cancer community: Facing Our Risk of Cancer Empowered (FORCE), the Basser Center for BRCA, and The Breasties. A flyer including study details and a link to a screening survey was shared with these organizations, who were invited to share this flyer via social media, with group facilitators, and other colleagues at this organization. Snowball sampling was also employed to recruit potential participants (Isaacs, 2014; Sekoni et al., 2020); study participants were asked to share the screening questionnaire with others who might be interested in participating.

Interviews were conducted by the first author over Zoom between June 2022 and October 2022. Interviews were audio-recorded, transcribed by a professional transcription company, and reviewed by the first author to check for errors. The first author also composed field notes and post-interview summary sheets to share with the study team. After each interview, the first author reached out to participants to invite them to select a pseudonym of their choice. Interviews were concluded when it was determined that themes of interest had achieved thematic saturation.

2.4. Instrumentation

A semi-structured interview guide (Supplemental Figure 2) was developed to facilitate an exploration of project themes and questions through interviews with participants. The guide was developed with input from the first author’s thesis committee, as well as mentors in NHGRI’s Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) LGBTQI+ Project Group. Before the first author began to conduct interviews, the interview guide was piloted with a trans individual who had a research background and personal experience with gender-affirming care. The interview guide included questions exploring gender identity and expression, experiences of living with cancer risk, experiences with and perceptions of hereditary cancer care, impact of gender-affirming care on cancer risk management, and perspectives on stigma and discrimination against gender diverse people in medical settings. The guide also included questions about how cancer risk management has affected relationships and intimacy.

2.5. Data Analysis

Analysis of interview data followed a combined inductive and deductive approach with thematic analysis procedures as a guide (Braun et al., 2016). The first author familiarized herself with each transcript, triangulating it with her field notes and summary sheet. The first and third authors reviewed three transcripts, selected for maximum variability and produced an initial list of emergent themes across the three transcripts, framed by the study’s pre-existing focus on gender identity; individual and shared decision-making; experiences of stigma, stress, and discrimination in medical settings; bodily change in the context of surgical procedures, chemotherapy, or chemoprevention; risk perception; and outcome priorities and recommendations for clinicians in cancer genetics. Later in the interview process, the coding team met again, discussing two additional transcripts and concretizing codes into an initial codebook. While coding was initially carried out on paper, codes were transferred into MaxQDA to facilitate data management and analysis.

When coding concluded, the ‘One Sheet of Paper’ (OSOP) tool was used to group coded segments into a visual map of themes (Ziebland & McPherson, 2006). Creating an OSOP allowed the lead author to identify cross-cutting themes among participant accounts, and to clarify the relationships between themes and sub-themes. Initial codes selected for the OSOP focused on discussions of cancer risk and gender intertwining for participants (“gender identity and cancer journey,” “effects of diagnosis on gender care,” and “diagnosis and gender expression”), descriptions of surgical change (“surgical change and gender expression”) and descriptions of clinical interactions (“stigma, discrimination, and harm,” “clinical environments,” and “affirming care experiences”). As codes were refined, additional codes were identified around considering possible futures (“making surgical decisions,” “cycles of gender expression and social perception”) and participant recommendations for providers. Building on rounds of iterative coding and the OSOP exercise, the first author summarized the data through a thematic analysis, focusing on three themes relating TGD gender identity with experiences of hereditary cancer care. Quotes selected for this paper were excerpted from interview transcripts and copyedited for clarity.

3. RESULTS

3.1. Participant Characteristics

At the time of analysis, 41 people completed the study’s screening questionnaire, and 30 met inclusion criteria. Interviews were conducted with 19 adult participants who have hereditary cancer syndromes or significant family histories of cancer. The length of interviews ranged from 52 to 116 minutes. Seven participants were transgender men or transmasculine, while twelve participants were nonbinary or genderqueer. No participants were transfeminine. Most participants had received a genetic diagnosis of BRCA1/2 or Hereditary Breast and Ovarian Cancer Syndrome (HBOC), while the remainder of participants had received genetic diagnoses of MSH2 (Lynch Syndrome), TP53 (Li-Fraumeni Syndrome), ATM, or HOXB13. Two participants were uncertain if they carried a genetic pathogenic variant but thought of themselves as high-risk on account of personal or family histories of cancer. Most participants in the study were white (N=17) and 25–39 years old (N=11). Eighteen participants were assigned female at birth (AFAB), and one participant was assigned male at birth (AMAB). Participants’ self-reported demographic characteristics are characterized in Table 1.

3.2. Overarching Themes

Our analysis revealed three broad themes connecting gender identity and experiences of hereditary cancer care. Firstly, experiences of gendered stigma, discrimination, and dysphoria in clinical care shaped participants’ capacity to feel safe and empowered as TGD patients. Secondly, receiving a genetic diagnosis opened possibilities for accessing gender-affirming care, but medical recommendations for reducing cancer risk as TGD individuals also introduced new forms of medical uncertainty. Finally, reflecting on their experiences of care, participants described how providers in hereditary cancer care could better support other TGD patients.

3.3. Discrimination and Dysphoria in Hereditary Cancer Care

Across interviews, participants reflected on the difficulty of navigating medical care as trans and nonbinary individuals. They shared accounts of challenging experiences, ranging from overt discrimination to subtle microaggressions, which reflected gendered norms they also encountered in everyday life. For many participants, providers made medical recommendations based on the assumption that they were cisgender and heterosexual. Ben, a trans man with elevated risk of chest cancer, met with a genetic counselor to discuss his results. Shortly after his genetic diagnosis and facing the recommendation to consider prophylactic surgery, he was certain he wanted to pursue a mastectomy without reconstruction. However, his genetic counselor suggested that Ben make risk-reducing decisions with a potential husband’s desires in mind:

[The genetic counselor] was very adamant that I consider my future husband and what he would want, because he wouldn’t want someone without breasts… someone that didn’t give him kids. So that wasn’t great… we got through with the appointment, got the testing, and never went back. Didn’t pursue their services any further.

Ben (he/him), transgender man, BRCA2

This was a challenging encounter for Ben because his genetic counselor assumed that he was a cisgender, heterosexual client; further, the counselor prioritized an imagined future partner’s desires over Ben’s internal sense of what was right for him.

Participants could also feel discriminated against when providers did not acknowledge a patient’s expressed gender identity. Zoe, a nonbinary BRCA1 carrier, met with a plastic surgeon after receiving their genetic diagnosis. Zoe had a strong sense that they wanted to pursue a risk-reducing mastectomy without reconstruction. When they shared this with their plastic surgeon, the surgeon responded that they “don’t serve trans people.” For Zoe, the desire to go flat was connected to their gender identity as a nonbinary person, making the plastic surgeon’s response doubly difficult. Firstly, the surgeon conveyed that she would not support Zoe’s desire to go flat, turning them away; secondly, the surgeon conveyed that she saw Zoe as transmasculine, rather than nonbinary, leading Zoe to feel that their gender expression was not seen or recognized in the clinic.

Many participants shared that, even when providers weren’t acting in overtly harmful ways, they experienced gender dysphoria navigating certain clinical environments that were designed as feminine spaces.

I’m sure you are going to hear this from basically every transmasculine person you talk to in this study… “Women’s Imaging,” “Center for Women’s Care,” “Women with Lynch Syndrome.” Like, it doesn’t end. It’s everywhere.

Frankie (they/he), nonbinary/transmasculine, MSH2 and ATM

For many participants, the physical spaces of clinical environments were difficult to pass through. Imaging appointments and waiting rooms were often cited as uncomfortable passage points.

I think the worst thing is the waiting rooms. Especially in the Catholic places, they call you by your first name, legally, and it’s all very feminine. There’s just mostly what appears to be cis women in the room. And as I’ve been dressing more and more [masculine], it feels like I’m a very big outlier there. Being in that waiting room… <laughs> they only have pink gowns.

Ben (he/him), transgender man, BRCA2

One participant, a nonbinary BRCA1 carrier with two kids, noted that experiencing friction with gendered clinical environments helped them understand that they were nonbinary.

I came out as nonbinary when I was pregnant with my youngest because that’s what really put me over the edge. I was like, “Wow. Yup. Okay.” It made me discover myself a whole lot more when I had that shoved down my throat, I was like, “Yeah, definitely don’t align with that.”

Jay (she/they), nonbinary, BRCA1

Participants described responding to discomfort by using techniques that helped them to feel more safe or secure. The most common technique described was “bracing,” or anticipating the possibility of harm. Specifically, participants often found themselves anticipating that they would be misgendered in appointments.

Billy, a nonbinary BRCA1 carrier preparing for a preventative mastectomy, shared that he was always anxious to bring up anything related to gender when he met a new provider, because he expected to be misgendered. Further, he worried that it might affect the quality of his future care. That said, he felt it would be important to discuss his gender identity with his team before his next surgery, so they could have an opportunity to treat him respectfully.

I’m anxious to bring up anything gender-related when I’m seeing new providers, because you never know if they’re going to be accepting or if it’s going to change how they care for you in the future. So, that’s something that I’m just never really comfortable with, but we’ll get there. I’m gonna have to tell them before my surgery so that they don’t misgender me and all that in their notes.

Billy (he/it), nonbinary, BRCA1

Many participants shared a concern of looking at notes, after an appointment, to discover that they were misgendered. Frankie, a nonbinary, transmasculine person with Lynch Syndrome, shared:

Every time a doctor misgenders me in their notes, it feels defeating.

Frankie (they/he), nonbinary/transmasculine MSH2 and ATM

Across sites and settings, participants shared experiences of discrimination and gender dysphoria as they navigated hereditary cancer care. Specifically, the passage points of waiting rooms and imaging suites in “women’s” care centers were noted to trigger dysphoria. In anticipation of difficulties, participants discussed ‘bracing’ for microaggressions and avoidance of clinical questions and concerns relating to their gender identity and expression. In addition to clinical interactions, participants noted bracing to be misgendered in clinical notes. These experiences inflected participants’ abilities to feel safe and secure while navigating cancer risk management.

3.4. Intertwining Journeys: Gender Identity and Genetic Diagnosis

Across interviews, participants explored how their genetic diagnosis and gender affirmation journeys were intertwined. As Billy, a nonbinary participant with a BRCA1 pathogenic variant, succinctly said:

For me, anything related to the BRCA1 gene is going to be related to my gender-affirming care in every way because everything that has to do with my body also has to do with my gender dysphoria.

Billy (he/it), nonbinary, BRCA1

Reflecting on their experiences of surgical decision-making, participants weighed their perceptions of cancer risk and their lived experience of gender dysphoria together as considerations. Several participants shared that their visions for gender affirmation and cancer risk management were very aligned.

I feel like I’m getting top surgery because it’s equal amounts gender identity and cancer prevention for me, in my mind.

Jax (they/them), nonbinary, BRCA1

One participant, Jay, reflected this sentiment when they discussed how they felt about their chest surgery after the fact. They shared that they understood mastectomy and top surgery were different procedures, technically speaking; nonetheless, cancer risk management held the symbolic meaning of top surgery.

I know the surgeries aren’t the same, but symbolically, [mastectomy] holds the same feeling for me [as top surgery]. It’s also, like, multiple weights off my chest, because it’s gender. It’s cancer risk. It’s, you know, self-image. It’s everything.

Jay (she/they), nonbinary, BRCA1

When discussing the mutual implications of gender identity and cancer risk assessment, interviewees specifically reflected on the ways in which their perceptions of cancer risk and their lived experiences of gender affirmation or dysphoria intersected when making surgical decisions. Interviewees also explored how experiences of genetic diagnosis affected barriers to care and introduced new forms of uncertainty into their care journeys. We explore these two sub-themes in the following sections.

3.4.1. Gendered Crossroads and Horizons in Cancer Risk Management

Among AFAB trans and nonbinary participants who had begun the process of managing cancer risk, many expressed feeling affirmed by receiving mastectomy without reconstruction. Participants shared that, when faced with the information that breast or chest tissue held the threat of elevated cancer risk, they quickly made the decision to have mastectomy. Gray, a 63-year-old nonbinary woman, received genetic testing after she was diagnosed with early-stage breast cancer. They were presented with the option to have a lumpectomy with surveillance or mastectomy. For Gray, the answer was immediate and clear: they wanted a prophylactic double mastectomy, the option most approximate to top surgery.

To me, a double-mastectomy was gender-affirming, not gender-threatening.

Gray (she/they), nonbinary, BRCA2

A number of participants discussed how, after the mastectomy, they felt more at home in their embodied gender expression. Petra, a gender non-conforming BRCA2 carrier, reflected on how she appreciated their expression of queerness after the surgery.

Post-mastectomy, I’m just like, I love my flat chest…it helps me feel a little more outwardly queer and embrace my body.

Petra (she/they), nonbinary, BRCA2

That said, Petra also shared that they didn’t think they would have chosen to pursue top surgery if it weren’t for the genetic diagnosis.

Afterwards, I was like, “This is interesting. I don’t think I would have ever gotten top surgery, but I feel really comfortable in this, and this just feels right for my body.”

Petra (she/they), nonbinary, BRCA2

Many participants shared a sense that receiving a genetic diagnosis that conferred elevated cancer risk felt like a turning point in their relationship with their gender expression. One participant, Fern, reflected on complex feelings associated with the moment of diagnosis, which “crystallized” dysphoric feelings they had been holding about his gender expression at the time.

I’m honestly not sure if my egg would have cracked if not for the BRCA diagnosis. So, in a weird way, I’m grateful. I mean, I would rather not have a cancer syndrome, obviously, but I think it would have been a weirder and much longer road of coming to gender feelings – or any degree of clarity on those gender feelings – had I not had the sheer trauma of BRCA, which crystalized a bunch of my dysphoric feelings about my body and kind of simultaneously kicked me out of most classical presentations of gender…I’ve thought about it a lot as a turning point: this moment where the possible futures I envisioned for myself collapsed but also other ones began to unfurl.

Fern (they/he), nonbinary/transmasculine, BRCA1

For Fern, the moment of genetic diagnosis, with its attendant cancer risk, alerted them to their discomforts around their then-femme presentation. As with Petra, Fern noted that he would likely not have pursued surgery as part of their gender-affirming care, if not for the genetic diagnosis. That said, they felt their cancer risk management and gender-affirming care were “tied up” together.

In a weird way, the kind of gender-related care that I would have wanted are kind of tied up in the kinds of care I’m getting. I don’t know if I would have ever had top surgery – probably not, because I’m terrified of surgery – but it would have been on my list of [therapies] in an ideal world.

Fern (they/he), nonbinary/transmasculine, BRCA1

Navigating hereditary cancer care and gender-affirming care together brought up a wide range of intense, mixed feelings for participants. In describing their experience, Jax noted that there is the euphoria of inhabiting a body expressive of the gender a person feels; there is also the trauma of “trying to survive cancer.” Navigating cancer care, they felt like they were between those two emotions.

That’s what I feel like. I feel like I’m stuck in the middle of euphoria, of having my body look like it’s supposed to. And, also, like, the trauma of having to do it for a very traumatic reason.

Jax (they/them), nonbinary, BRCA1

While mastectomy, or top surgery, was at the top of participants’ minds as they spoke about the intersection between cancer risk and gender identity, bottom surgery was also a consideration. Transmasculine participants with BRCA pathogenic variants reflected on how receiving surgical intervention on reproductive organs would, or did, help with gender dysphoria. Fern, who had had a preventative salpingectomy but had not yet had an oophorectomy or hysterectomy, reflected on the feeling of having received one of the procedures to manage their cancer risk.

I have always had a lot of dysphoria around my reproductive system, not the having a vagina of it all [speaker’s emphasis], but the internal stuff. It makes me so squigged out and uncomfortable. I just hate it. I hate womb, don’t like it, don’t like the word, don’t like what it represents, just don’t like it… So, for years, I’ve been like, If I could quickly and painlessly get a hysterectomy, would I? Hell yes. I do not want it. I hate menstruating. It just makes me sad and stressed out and I don’t like that reminder of you are fertile. Being infertile following my salpingectomy: best feeling. I had that surgery three days before the Dobbs decision. I was like, “Oh, my God, oh, my God, I’m so glad I got this done, holy God.” But yeah, so, I feel kind of really excited at the prospect of not having a uterus or ovaries. I wish I could have gotten rid of them by now. If that were an option, I would.

Fern (they/he), nonbinary/transmasculine, BRCA1

Some nonbinary participants, though, were more ambivalent about the prospect of having reproductive organs removed. One participant, Jax, explored how their feelings of dysphoria differed as they reflected on different organs. While they expressed that top surgery was “equal amounts gender identity and cancer prevention” for them, they felt differently about the other recommended surgeries, which for them were more about cancer risk. Further, they felt attached to their uterus. Because of this, they were reluctant to have a hysterectomy before it was more clearly recommended, from a cancer risk management standpoint.

I definitely want to get rid of [the ovaries] and fallopian tubes. I don’t feel like that’s at all connected to my gender, and 100% would not have been doing that if it wasn’t for surgical or cancer prevention. Weirdly, one of the things that’s been throwing me through a loop is whether to get a hysterectomy or not because…the studies are so inconclusive that I just can’t see the reason to do it, yet. If it becomes conclusive and there’s, like, a reason, and it becomes recommended, then I will do it. But at this point, it’s not, and I actually really want to keep my uterus for some reason… I feel connected to my uterus and in a way that’s me, and I don’t know whether it’s gender-wise or just me-as-a-whole-wise or what it is. But I think part of it is that because I work at Planned Parenthood, and we talk about uteruses a lot… Yeah, I’m just attached to my uterus for multiple reasons.

Jax (they/them), nonbinary, BRCA1

Participants with diagnoses of hereditary cancer syndromes explored the corporeal and symbolic overlaps between cancer risk management and gender-affirming care. Specifically, interviewees described feeling affirmed by the experience of going flat through risk-reducing mastectomy. Further, for many, genetic diagnosis felt like a “turning point” or crossroads in their gender expression, with broadened horizons of gendered possibility not previously accessible to them. That said, navigating life with cancer risk and gender affirmation carried heavy emotional weight, with valences of both “euphoria” and “trauma.” While risk-reducing mastectomy was generally seen as top surgery and promised to help with gender dysphoria, participants diverged with regard to dysphoria and desire around gynecological or bottom surgery.

3.4.2. Challenging Barriers, Facing Uncertainty

Participants reflected on the effects of their genetic diagnosis on their gender journeys. Many participants shared, plainly, that they felt they were able to access gender-affirming care through their hereditary cancer care, as insurance would cover procedures relating to cancer risk.

The biggest thing is that it allowed me to get gender-affirming care. Having cancer, insurance-wise, or having cancer-related things, is cheaper [than medical transition]. That’s just how it is. I was a low-income person; I guess I still am. The money aspect was really important to me, and I would not be able to afford it all without [the genetic diagnosis].

Ben (he/him), transgender man, BRCA2

Awareness of this access elicited complex feelings for participants. Jax, a nonbinary BRCA1 carrier, described the ability to access top surgery as a BRCA1 carrier as a “privilege that I don’t necessarily want and would not choose to have.” On one hand, it provided a tool for stepping over the complicated gatekeeping many TGD people face while trying to access care in the U.S. On the other hand, it brought up feelings of fear and anticipation relating to the uncertainty of inherited cancer risk.

While genetic diagnosis facilitated access to top surgery and bottom surgery, it also created new areas of intersecting medical uncertainty for participants. Frankie, Wes, and Billy each discussed how, while they would otherwise be interested in gender-affirming hormones, they and their providers were concerned about the long-term effects of testosterone on their cancer risk.

Austin, an 18-year-old trans BRCA1 carrier, explored how receiving a genetic diagnosis both supported and complicated his gender-affirming care journey. Austin, a high school senior, was discussing top surgery and testosterone with his gender care team when his mother suggested he pursue genetic testing as part of that process, on account of her diagnosis of BRCA1 and history of breast and ovarian cancer. When he got his test result, Austin said that his first thought was, “Cool, now I can start top surgery stuff.” But there was also a sense that the cancer risk would complicate his top surgery, carry additional cancer risks, and require additional screenings.

I had an MRI recently for top surgery. It was like, oh yeah, this was what my mom went through [with her cancer]. Now…I might have to do that. That’s kind of weird and scary.

Austin (he/him), transgender male, BRCA1

When Austin discussed his test results with his gender care team, he found that he started experiencing tensions with his mother around his dual care. While he wanted to get his top surgery as soon as possible to address his gender dysphoria, his mother wanted him to consider waiting longer; she also urged him to consider not going on testosterone. Ultimately, through discussions between Austin’s gender care team and his oncologist, his providers decided to prescribe him testosterone and schedule his top surgery. With the BRCA1 pathogenic variant in mind, they planned to have a breast surgeon who specialized in cancer risk management perform the procedure, rather than the surgeon they had been planning to work with through the gender clinic. Austin noted that this felt less affirming for him, but that he was glad to be moving forward with plans for top surgery.

Across interviews, participants emphasized the importance of recognizing fluidity in their gender journeys. Their visions for gender-affirming care and cancer care were not necessarily fixed, binary goals that could be met through a discrete intervention. Rather, they were co-emergent and ongoing. Gray reflected on the importance of cancer providers understanding their gender fluidity.

Fluidity can be moment-to-moment, hour-to-hour, day-to-day, week-to-week. It can be from the beginning of one’s life to the end of one’s life. Someone can discover that their gender is more fluid than they realize. And that can occur at any time in someone’s life before they’re diagnosed with cancer, after they’re diagnosed with cancer, and that’s something that needs to be considered when they’re deciding what their surgery is going to be.

Gray (she/they), nonbinary, BRCA2

Genetic diagnosis allowed participants to access gender-affirming care, such as top and bottom surgery, through insurance coverage. However, the diagnosis also created new areas of intersecting medical uncertainty, particularly regarding the long-term effects of hormone therapy on cancer risk. Throughout discussions, participants emphasized the importance of cancer providers both understanding and considering their fluidity when making decisions about participants’ care management.

3.5. Aspirations for Hereditary Cancer Care

In the midst of a fraught care landscape, participants reflected on the value of providers who supported or affirmed them as gender diverse patients. Participants appreciated when providers conveyed a sense of humility in clinical interactions; for example, apologizing if they misgendered a client or were unsure how to answer a question. Participants also noted the importance of providers who demonstrated allyship through explicit cues like wearing a rainbow lanyard, or more implicit cues like mindful uses of gendered language. Wes, a nonbinary/trans person, felt supported by an ultrasound technician who made a conscious effort to use gender-neutral language during an experience that triggered gender dysphoria.

[The ultrasound tech] did a great job – none of the conversations we had were ever gendered. She could talk about bodies and body parts, ask me what words I wanted to use for my body parts…I felt supported by her. It was a space where I could be like, cool, I’m about to engage in an uncomfortable procedure and I feel okay enough to do that. I feel supported in this space. I feel like this person gets that this is uncomfortable, and the layers of why this was uncomfortable… Do I love going to the women’s clinic? No. Does it help that I’m then interacting with someone who’s like, “I don’t see you [as a woman]. And I’m going to help make this procedure as comfortable as possible, because it’s not only physically uncomfortable; it’s like, dysphorically uncomfortable. I’m going to support you through that”? Yes [speaker’s emphasis].

Wes (they/them), nonbinary/trans, MSH2

Generally, participants found it valuable when providers tried to use their correct pronouns; partnered around challenging, complex care decisions; and validated and normalized their preferences, especially relating to their needs as gender diverse patients. For example, when Jay emerged from their mastectomy procedure, they felt affirmed by their providers, who tailored their communication to Jay’s gender expression and emphasized their appreciation for Jay’s post-surgical chest.

After I got to see my chest for the first time after surgery, nobody pitied me. The [surgical team] were all really kind about it. They were like, “Wow. You look amazing. These look so good. Your scars are going to be so beautiful. You’re doing great.” It wasn’t like, you know, “When are you going to get implants put in after this?” It wasn’t any of that negativity. The nurses were all very kind. Everybody was very gentle about the whole process. I think they could tell that I was the type of person that would prefer for them to not be like, “Yay, strong woman.” I was really thankful for that.

Jay (she/they), nonbinary, BRCA1

Similarly, Zoe discussed a consult she had with their surgeon when they felt especially affirmed. When they shared their goals for surgery, it was affirming to simply have their preferences normalized by the provider.

The surgeon said, “Ah yes, I see you’re non-binary. What you’re asking for makes sense. You make sense. You’re not an alien.”

Zoe (she/they), nonbinary, BRCA1

Jason, a nonbinary BRCA2 carrier who was assigned male at birth, described how affirming it felt when a provider named that they were nonbinary.

When I meet a new clinician and they say “Oh, your intake form identifies you as nonbinary. I just want to let you know that I understand that” …I feel like my identity is included in the room, rather than just my biology.

Jason (they/them), nonbinary, BRCA2

At the same time, participants critiqued tokenistic efforts at gender inclusivity, such as intake forms that asked for identity markers that were then not used by providers. Jax described how it felt to be invited to share their gender identity and later be misgendered.

I think like seeing the signs saying you can share your pronouns and seeing it on the computer and like being able to put in my pronouns it was really, really exciting for me. And then getting there and like being misgendered was just kind of a letdown… I kind of expected it, but also I was still a little disappointed.

Jax (they/them), nonbinary, BRCA2

In addition to TGD-specific recommendations, interviewees urged providers to understand the complex emotional significance of living with hereditary cancer risk.

That’s something I want doctors to understand: the emotional ramifications of previvorship, and the fear and anger it creates…they don’t necessarily understand the ups and downs that go together with the risk. The emotions that come with it.

Frankie (they/he), nonbinary/transmasculine, MSH2 and ATM

Drawing on their experiences navigating care, participants provided recommendations for how providers could better support TGD patients. Participants recommended that clinicians explore, with clients, how interventions might affect their gender identity or expression; be attentive to gendered language in clinical interactions and notes; and partner with TGD communities to set research priorities, shape the landscape of available support groups, and train healthcare providers on TGD-specific health concerns.

4. DISCUSSION

This study is among the first to explore the lived experiences of trans and nonbinary people navigating hereditary cancer care. Interview participants shared experiences of dysphoria and discrimination in care settings, discussed the mutual implications of hereditary cancer risk management and gender-affirming care, and provided recommendations for providers working in hereditary cancer care.

Participants shared experiences of gender-based discrimination in hereditary cancer care, which led them to practices of ‘bracing’ or avoidance in anticipation of future harm. This confirms recent findings from the genetic counseling literature, which suggest that trans individuals experience anticipatory anxiety around cancer genetic counseling, connected to fear of discrimination (Rolle et al., 2022). Participants also discussed the dysphoria they often feel in cancer care settings, which are often labeled as “women’s health” centers and with gender-stereotypical imagery, colors, and signs. Negative impacts of gendered care spaces—and in particular, waiting rooms—have also been highlighted in the prenatal genetic counseling context (Ruderman et al., 2021). In addition, imaging appointments were observed as gendered spaces with the potential to evoke dysphoria and discomfort. Cancer care settings have long been critiqued by the social science literature as creating a “redoubling of femininity” around cancer’s gendered social meanings (Gibbon, 2007; Jain, 2007; Sedgwick, 1992). Reflecting on participants’ narratives illuminates specific sites in the clinical encounter where providers can amend existing practices to provide additional support for trans patients.

While participants shared overarchingly frustrating experiences navigating care, they also highlighted key moments in which they were affirmed by providers. Prior studies have suggested that acknowledging a person’s gender identity, using their name and pronouns; carefully delivering risk information with gender-neutral language; and considering that trans people may not have full access to their family history can help create an affirming care environment (Barnes et al., 2020; Rolle et al., 2022; Sutherland et al., 2020; von Vaupel-Klein & Walsh, 2021). Building on this work, this study found that participants also felt affirmed when providers partnered around difficult care decisions; validated and normalized their preferences; and conveyed a sense of humility in clinical interactions. It became clear that participants felt dismayed when clinics asked for their gender identity and later misgendered them in appointments. These findings have implications for the provision of care for gender diverse patients.

Across interviews, participants reflected on how their gender-affirming care and cancer care journeys informed one another. In a study of cancer genetic counselors’ experiences with transgender patients, it was suggested that genetic testing affects gender-affirming surgical decisions, and that pathogenic variants allow for insurance coverage for gender affirming surgeries (Zayhowski et al., 2019). This study supports these findings; it also demonstrates that the ways in which cancer care and gender-affirming care intersect are contingent on an individual’s gender expression, level of access to gender-affirming care in their local policy landscape and care system, and a myriad of social factors that merit further exploration. Importantly, participants reflected on how gender identity and gender dysphoria shaped many aspects of their care experiences. For some, like Billy, this was because gender dysphoria affects “everything that has to do” with the body. For others, like Jay, these decisions carried the dual symbolic meaning of gender affirmation and risk management: “It’s gender. It’s cancer risk. It’s, you know, self-image. It’s everything.” These findings point to the importance of provider awareness of the gendered significance of care decisions. Statements like “I don’t serve trans people,” delivered to Zoe when they brought up going flat, underscore the fact that providers may feel unprepared to work with TGD clients, and illuminate how bias, coupled with a lack of specialized training, can appear in practice.

Further, participants explored how a genetic diagnosis introduced new forms of medical uncertainty into their care journeys. Though Frankie, Wes, and Billy might have been interested in receiving testosterone as part of their gender-affirming care, a lack of data around the long-term effects of hormones on cancer risk cast doubt on their decision-making processes. Research on the long-term effects of gender-affirming hormones on cancer risk is scarce (Brown & Jones, 2014; Chlebowski et al., 2015; Gooren et al., 2013). Participants’ narratives call attention to a need for additional, longitudinal work focused on the long-term effects of hormone therapy. In existing data collection efforts such as the national SEER Program, integrating questions on sexual orientation and gender identity (SOGI) is another critical step required to help broaden the scope of knowledge on cancer risks in the TGD population (Sullivan, 2020). That said, it is important that providers not let a lack of data introduce additional layer of gatekeeping into the already fraught process of accessing gender-affirming care. Instead, these findings highlight the need for providers to ally with patients around these decisions, partnering to help patients weigh the benefits of gender-affirming therapies against risks and uncertainties.

Finally, these findings show that the social and emotional needs of TGD people navigating hereditary cancer care are multi-faceted, with descriptions of trauma and queer joy mutually implicated within the same care narrative. Of particular note, many participants described genetic diagnosis as a ‘turning point’ in their gender expression: Petra did not know until after her mastectomy that she “just feels right” with a flat chest; Fern was “honestly not sure” his “egg would have cracked if not for the BRCA diagnosis.” The moment of genetic diagnosis is a sensitive juncture in care that merits special attention. In fact, multiple participants referenced the experience of diagnosis as traumatic, calling attention to the need for more trauma-informed care in this context. Overall, the complexity of the social and emotional needs of TGD people navigating hereditary cancer care highlights the importance of addressing these issues in the clinical setting, as will be discussed further in the next section.

4.1. Practice Implications: Towards Gender-Affirming Hereditary Cancer Care

In the past several years, a growing body of literature has begun to document gaps in knowledge about how to care for gender diverse patients; it has called for increased research, attention, and sensitivity to avoid harms against this marginalized patient population. Reflecting on these gaps in their own care experiences, participants recommended that clinicians not make cis-hetero-normative assumptions about patient identities and desires; be attentive to uses of gendered language; express humility in the case of uncertainty or having made a mistake in session; acknowledge and validate gender; and convey trustworthiness by partnering with individuals around care decisions, and with communities around medical education and research initiatives.

These recommendations could be incorporated into existing clinical practices through specific interventions. For example, when asked how providers could better support them as gender diverse patients, the most common suggestion from participants was to “not make assumptions” about patients’ gender identities. Instead, participants recommended that providers ask patients open-ended questions about their identities and about care preferences and desires that might be shaped by their identities. Participants also recommended that providers be attentive to uses of gender: asking for pronouns in intake paperwork, demonstrating sensitivity to uses of gendered language in clinical interactions, and being careful not to misgender patients in clinical notes. That said, participants reflected on the disappointment they felt when misgendered after being asked for information about their gender identity. This finding underscores the dangers of performative allyship and a ‘checkbox’ approach to cultural sensitivity in clinical settings.

In addition, participants emphasized the importance of increased clinical awareness of trans health issues. Specifically, they recommended that clinics provide more specialized trainings on trans health; that clinical training programs make more of an effort to recruit and train queer and trans clinicians; and that trans communities be partnered with to set research priorities. Through educational interventions, recent efforts have been made to raise clinical awareness of trans health issues within genetic counseling (Ernst et al., 2023; Huser et al., 2022). Building on this work, training programs could integrate such interventions into their curricula. Further, responding to the need for more equitable research partnerships, community-based participatory research—as a collaborative approach that equitably involves community members and researchers—would better serve trans community needs in this evolving domain (Israel et al., 1998; Key et al., 2019)

Reflecting on participants’ recommendations and narratives of care, we are prompted to ask: what would a model of gender-affirming care look like in cancer genetic counseling? Call writes that a clinician providing affirming care must, “listen to families, understand what patients are expressing about gender, and facilitate safe gender exploration” (Call et al., 2021). This study’s findings suggest that taking on an affirming care approach in this context entails responding to these recommendations, allying with patients to facilitate safe gender exploration in the crosshairs of hereditary cancer risk. This means practicing with sensitivity and humility in everyday clinical care, meanwhile addressing systems and policies that impact access to affirming care. Genetic counselors, trained to skillfully combine biomedical and psychotherapeutic expertise as patients navigate difficult life events, are uniquely positioned to carry out this vision in practice. Specifically, genetic counselors working in hereditary cancer care can better equip themselves to respond to the complex social and emotional care needs of TGD patients, within sessions and through referral networks. Additionally, genetic counselors are well-positioned to advocate for systemic change: from clinical education to research agendas, and from insurance barriers to adjustments to clinical environments. Efforts to improve policies and systems that support access to gender-affirming care should be a priority for healthcare providers, researchers, and advocates alike.

4.4. Study Limitations

Several limitations shape the validity of this study. Firstly, the majority of interviews were conducted with individuals who identified primarily as nonbinary, but not as transgender, leading to a bias towards nonbinary experiences and care trajectories. Most study participants were white, with only two BIPOC participants enrolled in the study. As a result, we were not able to explore experiences of intersectionality in detail or depth. Further, most participants received a college education and were recruited through patient advocacy organizations, which may have biased the study towards participants who have a high level of health literacy. Finally, we only interviewed one individual who was assigned male at birth, and we were not able to interview any transfeminine individuals, due to recruitment challenges; no transfeminine individuals who met criteria completed the recruitment survey. Future studies are needed to explore the intersecting care experiences of transfeminine individuals with elevated cancer risk.

5. CONCLUSION

This study explored the experiences of TGD individuals navigating hereditary cancer care. We identified areas of care in which trans and nonbinary people experience dysphoria and discrimination, as well as specific practices that they find affirming. We delved into the interplay between cancer risk management and gender-affirming care, underscoring the moment of genetic diagnosis as a critical juncture for TGD individuals. The moment of genetic diagnosis can be a catalyst in gender identity development, opening the door to new forms of expression. On the other hand, a diagnosis can also introduce unwelcome forms of indeterminacy, as the threat of cancer risk overlays onto other long-term considerations. This study highlighted the complex emotional landscape of the moment of diagnosis and the intertwining care journeys that can follow.

In a fraught care landscape, recommendations for providers include asking open-ended questions about gender and sexuality; being attentive to uses of gendered language; expressing humility; recognizing and validating gender; and partnering with individuals around complex care decisions with implications for gender expression. Reflecting on participant experiences and recommendations, we propose providers consider what a model of gender-affirming care would look like in cancer genetic counseling. We suggest that genetic counselors are uniquely positioned to provide gender-affirming hereditary cancer care, and to advocate for systemic change that would benefit TGD patients. In the future, additional research is needed to further explore trans and nonbinary needs in hereditary cancer care, and to translate findings into improved clinical practices.

What is known about this topic?

Gender diverse people, who receive cancer risk assessment based on risk figures and standards of care developed for presumed cisgender individuals, face discrimination in care settings and widespread disparities in health outcomes. Limited specialized training for healthcare providers and patient experiences of anxiety highlight the need for more inclusive care for transgender and gender diverse patients.

What does this paper add to the topic?

This paper contributes to our understanding of the care experiences and unmet needs of gender diverse people with hereditary cancer syndromes.

Data Availability Statement

Data collected for this study are not publicly available, due to the risk of re-identifying participants.