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

Abstract

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.

What is known about this topic

Inclusive language demonstrates providers' respect for diverse individuals and facilitates rapport with TGNB patients. However, previous research has shown genetic counselors have expressed uncertainty and discomfort using inclusive language, particularly in discussions about pronouns with patients, and TGNB patients have recognized this discomfort and confusion.

What this paper adds to this topic

Genetic counselors in our study reported being comfortable with and often using gender‐inclusive language, yet most do not share their pronouns or ask patients theirs. The majority did not think gendered language had a significant negative impact on patient–provider relationships and trust, indicating they use gendered language to adhere to patient preferences and mirror their language, but they acknowledge the harmful impacts it can have for TGNB patients and adjust their language to be inclusive when needed.

1. INTRODUCTION

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. Transgender is a term describing individuals whose gender identity is different than the sex they were assigned at birth. Nonbinary refers to individuals whose gender identity falls outside the traditional binary structure of male or female (National Center for Transgender Equality, ^{2023a, 2023b}). As of 2022, ~1.6 million Americans identify as transgender and of those ~25% are gender nonconforming (Herman et al., 2022). The visibility and inclusivity of TGNB people in our society have increased in recent years. However, substantial barriers still exist to accessing healthcare services, including lack of competent care and limited inclusive healthcare settings. (Ard & Makadon, 2016; Berro et al., ²⁰²⁰; Grant et al., ²⁰¹¹; Harb et al., ²⁰¹⁹; Haviland et al., ²⁰²⁰; Zayhowski et al., ²⁰¹⁹). They encounter higher rates of discrimination and negative experiences with their healthcare providers than cisgender patients and often avoid healthcare due to fear of being mistreated. (Grant et al., 2011; James et al., ²⁰¹⁶). Approximately 25% of transgender patients reported discrimination from GCs in a recent study (Valentine et al., 2023). A lack of cultural humility and competency combined with the institutional barriers to accessing healthcare continue to exacerbate the vast disparities between cisgender and TGNB patients.

The Center of Excellence for Transgender Health's Guidelines for the Primary and Gender‐Affirming Care of Transgender and Gender Nonbinary People recommend clinic spaces and forms should clearly indicate the clinic's commitment to inclusivity and all healthcare staff should have training on transgender health issues. Providers should know basic terminology used by the community and gender identity data should be available in the patient's electronic medical record (Deutsch, 2016; Redfern & Sinclair, ²⁰¹⁴). Misgendering has been associated with feelings of being devalued, stigmatization, and increased psychological distress (McLemore, 2018). Healthcare providers' willingness and efforts to improve their knowledge of transgender patients could help develop a positive relationship between the provider and patient and may increase the utilization of healthcare services by transgender patients (Vermeir et al., 2018).

Inclusive language creates welcoming healthcare spaces and improves health outcomes for TGNB patients. The Linguistic Society of America (2016) states “inclusive language acknowledges diversity, conveys respect to all people, is sensitive to differences, and promotes equal opportunities.” Incorporation of gender‐inclusive language in genetics terminology and concepts, on forms and visual aids, and in appointments demonstrates the provider's respect for diverse identities. Inclusive language shows they are familiar with TGNB patients, which can build rapport and alleviate patients' concerns that they will not be understood (Coren et al., 2011). In other healthcare settings, gender‐affirming care has been shown to validate a person's lived experiences, improve their mental health and well‐being, and indicate the provider's commitment to inclusive care (Glynn et al., 2016; Hughto et al., ²⁰²⁰; Kattari et al., ²⁰¹⁶).

Transgender and nonbinary patients are likely seen in all genetic counseling specialties (Sheehan et al., 2020). Studies have demonstrated GCs desire more training on TGNB healthcare, including the unique educational needs related to genetic counseling for this patient population; when GCs have received proper training on gender‐affirming care, their knowledge, comfort, and self‐efficacy working with this population improves (Huser et al., 2022; Sheehan et al., ²⁰²⁰). TGNB patients believe GCs need to be clear about the importance of sex and gender for genetic counseling, validate gender identity, and use inclusive pedigree symbols (Barnes et al., 2020; Rolle et al., ²⁰²¹). They have expressed anxiety prior to appointments with GCs, anticipating a negative experience after poor treatment from other healthcare providers, reported misgendering by GCs after correction, and noted GCs' discomfort or confusion using gender‐inclusive language and correct pronouns (Rolle et al., 2021). Furthermore, GCs have previously voiced discomfort asking patients about their pronouns or uncertainty surrounding how to ask about pronouns in cancer and prenatal settings (Berro et al., 2020; Ruderman et al., ²⁰²¹). Prenatal GCs have also encountered issues with binary/gendered visual aids (e.g., maternal/mom or paternal/dad) when assisting transgender patients and expressed a need for more inclusive aids and patient handouts (Ruderman et al., 2021).

This study aimed to examine GCs' gender‐inclusive communication practices and elucidate reasons for their discomfort using gender‐inclusive language to (1) determine how various communication methods can build trust and foster patient‐provider relationships, (2) ascertain if differences exist between different specialties, and (3) identify potential gaps in education and professional development among GCs.

2. METHODS

2.1. Recruitment and participants

Board‐certified or ‐eligible genetic counselors who have seen patients in the last 3 years were recruited between October and November 2022 through the National Society of Genetic Counselors (NSGC) listserv, the American Board of Genetic Counselors (ABGC) listserv, and the Wisconsin Genetic Counselors Association (WIGCA) listserv. A survey invitation was also posted to the University of Wisconsin‐Madison Genetic Counselor Training Program Alumni Facebook group. The first distribution of the survey was sent via email by NSGC and ABGC and was available for 4 weeks, with one reminder email sent to NSCG members at 7 days. A survey invitation was then sent via email by WIGCA, posted to the University of Wisconsin‐Madison Genetic Counselor Training Program Alumni Facebook group, and redistributed via email by NSGC and was available for another 2 weeks.

2.2. Instrumentation

The survey was developed by the research team that included a genetic counseling student, a genetic counselor, and a geneticist who all have been involved in efforts to improve gender‐inclusive care (Appendix S1). The final survey was piloted with a GC and a genetic counseling student unassociated with the project before distribution to provide input on clarity and the flow and timing of the survey. The data were collected through an anonymous online survey utilizing the University of Wisconsin‐Madison's Qualtrics tool. The questions were presented in a mixed‐methods format with a combination of free‐form response, multiple‐choice, and 5‐point Likert scale questions (Frequency Scale: 1 = never, 5 = always; Comfort and Importance Scale: 1 = not at all, 5 = extremely). Participants' IP addresses were anonymized via Qualtrics. Participants were required to take the survey in one sitting and were unable to save or close the survey and come back later or go back to a previous question once they proceeded to the next question.

The survey assessed frequency using, comfort with, and perceived importance of gender‐inclusive language, the use of specific gender‐inclusive terms, inclusivity of visual aids, and types and sources of gender‐inclusivity training and education. Respondents who indicated they currently or previously worked in oncology or prenatal specialties were prompted to answer questions about terms specific to their specialties. Respondents were asked their reasons for using gendered language and their opinions about the impact of using gendered language on patient‐provider relationships and trust. Demographic information was collected, including current and previous specialty. Participants also answered three open‐ended scenarios that were not analyzed for this manuscript but may be analyzed as part of ongoing work in this area.

2.3. Data analysis

Statistical analyses were conducted using SAS software (SAS Institute Inc., Cary NC), version 9.4 [13]. All reported p‐values are two‐sided and p < 0.05 was used to define statistical significance. Descriptive statistics such as count and frequency were generated for demographic variables. Fisher's exact was used for cross‐comparisons utilizing participants' responses and demographic data.

Participants were categorized by specialty into three groups for comparison: (1) prenatal/reproductive, (2) oncology, and (3) general, other specialties, split roles, and laboratory. For cross‐comparisons, comfort, importance, and frequency were defined by grouping responses as follows: “Comfortable” and “important” included “extremely” and “moderately”, “uncomfortable” and “less important” included “somewhat”, “slightly”, and “not at all”, “frequent” included “always” and “often”, and “infrequent” included “sometimes”, “rarely”, and “never”.

The responses to the two open‐ended questions were coded using a qualitative inductive approach and analyzed to draw conclusions. One author, H.M., developed the preliminary codebook using thematic analysis techniques. Similarities among participants' responses were identified and assigned descriptive codes. To increase the validity and reliability of the analysis, co‐author K.G. also reviewed the raw data. Through discussion and refinement of the codes, a consensus was reached for the final codebook. Codes were then applied to the phrases and grouped to identify emerging themes to allow for summation and comparison across responses. Coded responses could be included in more than one theme. Quotes or partial quotes in this paper are directly from participants. Some responses were edited to correct minor spelling errors or shortened for brevity.

3. RESULTS

3.1. Participant demographics

One hundred and twenty‐two GCs started the survey and 65 completed 100% of the survey. Fifty‐seven GCs were excluded from the data analysis, four for not meeting eligibility criteria and 53 for not completing 100% of the survey. For all reported results, n = 65 unless specified otherwise. Of the 65 GCs, 86.2% of GCs identified as female, 9.2% as male, and 3.1% as nonbinary. Two GCs identified as transgender or part of the transgender community, and one GC identified as “other.” GCs that identified as an underrepresented racial or ethnic minority in genetic counseling made up 16.9% of the participants. Their ages ranged from 24 to 61 years with a median age of 30 years. Genetic counseling specialties included: prenatal/reproductive (n = 20), oncology (n = 17), general (n = 16), and various other specialties, including cardiology, neurology, metabolism/newborn screening, and laboratory (n = 9). Three GCs held split roles in more than one specialty. Table 1 provides a summary of all demographic data collected.

TABLE 1.

Participant demographics.

Participants (n = 65)	n (%)
Gender
Female	56 (86.2%)
Male	6 (9.2%)
Non‐binary	2 (3.1%)
Prefer not to answer	1 (1.5%)
Identify as transgender
Yes	2 (3.1%)
No	61 (93.9%)
Other	1 (1.5%)
Prefer not to answer	1 (1.5%)
Underrepresented racial/ethnic minority in GC
Yes	11 (16.9%)
No	53 (81.6%)
Prefer not to answer	1 (1.5%)
Political ideology
Conservative	1 (1.5%)
Moderate	6 (9.2%)
Liberal	53 (81.6%)
Other	3 (4.6%)
Prefer not to answer	2 (3.1%)
NSGC a region of training program (n = 64)
Region 1 (CT, MA, ME, NH, RI, VT, CN Maritime Provinces)	2 (3.1%)
Region 2 (DC, DE, MD, NJ, NY, PA, VA, WV, PR, VI, QC)	13 (20.3%)
Region 3 (AL, FL, GA, KY, LA, MS, NC, SC, TN)	4 (6.3%)
Region 4 (AR, IA, IL, IN, KS, MI, MN, MO, ND, NE, OH, OK, SD, WI, ON)	31 (48.4%)
Region 5 (AZ, CO, MT, NM, TX, UT, WY, AB, MB, SK)	6 (9.4%)
Region 6 (AK, CA, HI, ID, NV, OR, WA, BC)	6 (9.4%)
Canada b	2 (3.1%)
Specialty
Prenatal	20 (30.8%)
Oncology	17 (26.2%)
General	16 (24.6%)
Other specialties	9 (13.8%)
Split	3 (4.6%)
Primary work setting
University/academic hospital or clinic	40 (61.6%)
Private hospital or clinic	10 (15.4%)
Private hospital or clinic w/religious affiliation	6 (9.2%)
Public hospital or clinic	3 (4.6%)
Diagnostic laboratory	3 (4.6%)
Other	3 (4.6%)
NSGC a region of primary work location (n = 62)
Region 1 (CT, MA, ME, NH, RI, VT, CN Maritime Provinces)	3 (4.8%)
Region 2 (DC, DE, MD, NJ, NY, PA, VA, WV, PR, VI, QC)	6 (9.7%)
Region 3 (AL, FL, GA, KY, LA, MS, NC, SC, TN)	5 (8.1%)
Region 4 (AR, IA, IL, IN, KS, MI, MN, MO, ND, NE, OH, OK, SD, WI, ON)	29 (46.8%)
Region 5 (AZ, CO, MT, NM, TX, UT, WY, AB, MB, SK)	10 (16.1%)
Region 6 (AK, CA, HI, ID, NV, OR, WA, BC)	7 (11.3%)
Canada b	2 (3.2%)
City population of primary work location (n = 64)
<250,000	16 (25.0%)
>250,000	43 (67.2%)
Unsure	5 (7.8%)

^a National Society of Genetic Counselors.

^b Survey did not have participants specify which Canadian province.

3.2. Comfort, frequency, and importance of using gender‐inclusive language

Most GCs (72.3%) reported, to their knowledge, they never or rarely counsel patients who are transgender or nonbinary. GCs who were most comfortable with gender‐inclusive language were more likely to report using it with their patients more often (p = <0.001). Two‐thirds of GCs said they were comfortable using gender‐inclusive language with patients and just over half (56.9%) reported they frequently do so. When questioned about how often they ask patients their pronouns or share their own, 7.7% frequently ask patients and 15.4% share their own. GCs were most uncomfortable asking patients their pronouns during in person/video (67.7%) or phone appointments (73.8%). They were most comfortable asking patients their pronouns on intake and health history forms (86.2%) and the majority (73.8%) said it was important to do so on these forms. 63% indicated it was less important to ask during in person/video or phone appointments. See Appendix S2 for all rankings of comfort, frequency, and importance of gender‐inclusive language.

The frequency at which GCs asked patients their pronouns or shared their own was not correlated with their reported comfort level with (p = 1 and p = 0.47) or frequency using gender‐inclusive language (p = 1 and p = 0.17). Identifying as an underrepresented racial or ethnic minority in genetic counseling, current genetic counseling specialty, and age were not associated with using gender‐inclusive language more often or being more comfortable using it (Table 2).

TABLE 2.

Comfort with and frequency using gender‐inclusive language.

Participants (n = 65)	Comfortable (n = 43, 66.2%)	Uncomfortable (n = 22, 33.8%)	p‐Value	Frequently (n = 37, 56.9%)	Infrequently (n = 28, 43.1%)	p‐Value
Variable	n (%)	n (%)		n (%)	n (%)
Ask patient pronouns frequently	3 (7.0%)	2 (9.1%)	1	3 (8.1%)	2 (7.1%)	1
Share their pronouns frequently	8 (18.6%)	2 (9.1%)	0.47	8 (21.6%)	2 (7.1%)	0.17
Racial/ethnic minority	9 (20.9%)	2 (9.1%)	0.31	9 (24.3%)	2 (7.1%)	0.09
Age >30 years	17 (39.5%)	12 (54.5%)	0.30	15 (40.5%)	14 (50.0%)	0.46
Specialty			0.95			0.53
General (n = 28)	18 (41.9%)	10 (45.5%)		16 (43.2%)	12 (42.9%)
Oncology (n = 17)	11 (25.6%)	6 (27.3%)		8 (21.6%)	9 (32.1%)
Prenatal (n = 20)	14 (32.6%)	6 (27.3%)		13 (35.1%)	7 (25.0%)
Type of gender‐inclusive training and education completed
LGBTQ+ healthcare	37 (86.0%)	14 (63.6%)	0.06
Transgender healthcare	34 (79.1%)	10 (45.5%)	0.01
Inclusive communication	40 (93.0%)	12 (54.5%)	<0.001	33 (89.2%)	19 (67.9%)	0.06
Workplace inclusivity	41 (95.3%)	12 (54.5%)	<0.001
During a general DEI a training	42 (97.7%)	17 (77.3%)	0.01
Location of gender‐inclusive training and education
GC training program	30 (69.8%)	8 (36.4%)	0.02	25 (67.6%)	13 (46.4%)	0.13
Current job	27 (62.8%)	13 (59.1%)	0.79	23 (62.2%)	17 (60.7%)	1
Previous job	7 (16.3%)	1 (4.5%)	0.24	7 (18.9%)	1 (3.6%)	0.07
Self‐directed	41 (95.3%)	10 (45.5%)	<0.0001	35 (94.6%)	16 (57.1%)	<0.001
≥10 h of gender‐inclusive training or education (n = 64)	26 (60.5%)	2 (9.1%)	<0.0001	24 (64.9%)	4 (14.3%)	<0.0001
Agree more standardized visual aids are needed	37 (86.0%)	6 (27.3%)	0.49	34 (91.9%)	20 (71.4%)	0.04
Agree gendered language has a negative effect on patient–provider relationships	10 (23.3%)	1 (4.5%)	0.08	9 (24.3%)	2 (7.1%)	0.10

Note: Significant p‐values are bolded.

^a Diversity, Equity, and Inclusion.

3.3. Gender inclusivity of genetic counseling terms

Gender‐inclusive genetic counseling terms (Figure 1) used frequently with patients were “affected/unaffected individual” (75.4%) and “Sperm/Egg” (66%). The terms used least often were “assigned female/male at Birth‐AFAB/AMAB” (18.5%) and “individual with/without a Y chromosome” (21.5%). When discussing families with patients, GCs frequently used the terms “spouse/partner” (92.3%), “children” (89.2%), “parents” (84.6%), and “siblings” (84.6%) instead of gendered terms. Neither age (<30 or >30 years) nor current genetic counseling specialty were correlated with frequency using gender‐inclusive terms (all p = >0.05), except prenatal GCs were more likely to use the terms “sperm” or “egg” (p = <0.001).

FIGURE 1.

(a) Use of gender‐inclusive genetic counseling terms n = 65 (b) Use of gender‐inclusive cancer genetic counseling terms n = 25; Approximately 29% of GCs in this study indicated they used other gender‐inclusive terms not listed on the survey. Terms GCs used included: person, biological parent/male/female, XX/XY individual, people with (X) body part, folks, first‐degree relatives, their name, pregnant person/people, gestational parent, pregnancy instead of boy/girl, and reproductive partner.

3.4. Gender inclusivity of visual aids

The majority of GCs (72.1%, n = 61) indicated that two or more of their visual aids for chromosome pictures, autosomal dominant/recessive, mitochondrial, and X‐linked inheritance used some or all gendered terms or symbols. Approximately two‐thirds of oncology GCs (n = 15/22) reported one or both of their visual aids for cancer risks to specific body parts and medical management used some or all gendered terms or symbols. Two‐thirds of prenatal GCs (n = 16/24) reported two or more of their visual aids for age‐related risks, chromosome pictures, noninvasive prenatal testing, and prenatal procedures (amniocentesis, chorionic villi sampling, ultrasound) used some or all gendered terms or symbols. Most GCs (83.1%) agreed or somewhat agreed that more standardized, gender‐inclusive visual aids are needed in genetic counseling and GCs who reported using gender‐inclusive language more often were more likely to agree or somewhat agree (p = 0.04) (Table 2). Gendered terms and symbols were defined in the survey (Appendix S1).

3.5. Gender‐inclusivity training and education

Almost all (96.9%) GCs had some type of gender‐inclusivity training or education, most commonly during a general diversity, equity, and inclusion training (90.8%). They reported one or more sources, with self‐directed being the most common (78.5%), followed by current job (61.5%), and genetic counseling training program (58.5%). Table 2 provides a summary of the participants' reported type and source of gender‐inclusivity training or education. Less than half (43.8%, n = 64) of GCs had 10 or more hours of gender‐inclusivity training or education and the majority (84.4%) wanted more.

GCs who received gender‐inclusivity education in their genetic counseling training program were more comfortable using gender‐inclusive language (p = 0.02) and were more likely to share their pronouns with patients (p = 0.04) compared to those without formal training (these data are not included in Table 2). They were not more likely to ask patients their pronouns (p = 1) or report a higher frequency using gender‐inclusive language (p = 0.13). GCs who had self‐directed gender‐inclusivity training or education reported higher levels of comfort with and frequency using gender‐inclusive language (p = <0.0001 and p = <0.001). GCs were more comfortable using gender‐inclusive language if they had education about transgender healthcare (p = 0.01), inclusive communication practices (p = <0.001), workplace inclusivity (p = <0.001), or general diversity, equity, and inclusion training (p = 0.01). Those with 10 or more hours of gender‐inclusivity training and education reported using gender‐inclusive language more often with patients (p = <0.0001) and were more comfortable with it (p = <0.0001). (Table 2).

3.6. Reasons for using gendered language (n = 61)

We used an open‐response question to explore reasons why GCs choose to use gendered language with patients. Seven major themes emerged from the coded responses: (1) Mirror patient language, (2) simplicity or clarity, (3) patient familiarity, (4) sex assigned at birth matters for risk assessment (5) provider flexibility, (6) gender‐inclusive language has a negative impact, and (7) habit. Several responses exemplified more than one theme. Themes and additional quotes that illustrate them are included in Table 3.

TABLE 3.

Reasons for using gendered language.

Participants n = 61	n (%)	Illustrative quotations
Theme
Mirror patient language Subtheme Build rapport (n = 4)	31 (50.8%)	To mirror the patients' language in order to build rapport and make them comfortable, I often see patients right after ultrasound when they found out predicted sex of baby and are excited to share the news. Also, if they have late children/miscarriages I find that asking about the gender/name of that child makes the conversation more personal. (Participant 28)
Simplicity or clarity	25 (41.0%)	…I notice I tend to use gendered language with people over age 70 because they often don't understand me when I use more inclusive language and then I resort to using male/female or men/women which they don't seem confused about. (Participant 23)
Patient familiarity	13 (21.3%)	…I also do think that the majority of people feel most comfortable with terms like brother, sister, mother, father when applicable (like when we are discussing the family history)… (Participant 33)
Sex assigned at birth is relevant for risk assessment Subtheme During family history (n = 8)	11 (18.0%)	To add specificity to a cancer risk assessment and make it more clear which relatives may or may not be at risk… (Participant 12)
Provider flexibility	10 (16.4%)	I am making an active effort to replace my language with more gender inclusive language wherever I can but there are some circumstances where I am still not sure what the correct language would be without being gendered. I also my start with something gender inclusive and defer to something gendered in patients who do not seem to be following the conversation and are more familiar with the gendered terms. (Participant 27)
Gender‐inclusive language has a negative impact	6 (9.8%)	…there have been times when a patient is very clearly homo/transphobic and while I wish that weren't the case, I know using gender neutral language in that situation may actually impair the provider/patient relationship. (Participant 63)
Habit	5 (8.2%)	Largely because this is a skill I'm still working on! I've tried to become more aware, cognizant, and intentional about using gender‐neutral language (even in day‐to‐day life), but this wasn't a skill I began working on until I was an adult. (Participant 49)

3.6.1. Mirror patient language

The most common reason GCs in this study used gendered language was to mirror patient language (50.8%). This motivation was woven throughout the responses, many of which were often coded to other themes as well. Participant 10 succinctly stated: “The patient's own language is gendered, so reflecting that choice.” GCs felt creating a shared language with patients was valuable for various reasons, with some specifically stating it was to build rapport. Participant 4 explained: “In order to establish effective rapport and trust, if they strongly identify as male or female, I use gendered language, as they prefer.”

3.6.2. Simplicity or clarity

Several GCs in our study (41.0%) reported they used gendered language for simplicity or clarification when patients appeared confused by inclusive language:

I find myself using gendered language as clarification – for example, when taking family histories, not all patients understand the meaning of the word ‘siblings’, It's happened a few times for me now that I will try to be neutral and ask about siblings and the patient responds with confusion, to which I follow up with ‘brothers or sisters’ and they are able to easily answer and we move on. My goal is to always use the neutral term first and then clarify if necessary, with gendered language. (Participant 14)

Participant 63 also explained the importance of conveying information in ways patients understand:

…It's important that our patients understand our message and that means using language that they understand, and if using terms like ‘egg‐providing parent’ is distracting or confusing to the patient rather than ‘mother’ (especially when talking about a confusing topic like X‐linked inheritance), I will use ‘mother.’…

Multiple GCs noted X‐linked inheritance was difficult to explain with gender‐inclusive language. Others felt gendered language was simpler to convey complex concepts to patients who may have lower health literacy or language barriers. Participant 30 explained: “I use gendered language in cases where educational level or language barriers exist to increase comprehension.”

3.6.3. Patient familiarity

21.3% of GCs indicated they used gendered language because it is familiar to most people. Participant 31 observed: “…gendered language is a part of routine communication and language for the vast majority of people…” A few GCs commented that factors contributing to their use of gendered language included patients' ages, political views, or location of practice. Participant 11 noted: “Most of my patients in the south prefer gendered language, but I do try to use non‐gendered language when I can.”

Some GCs indicated their main aim is to ensure patient comprehension. Since most patients are familiar with gendered language, using it can increase comprehension:

…I feel that my primary goals are clarity and understanding, and that specific, familiar language and examples are more clear for the majority of my patients vs less familiar and less specific language, even if this language is considered more inclusive by larger society… (Participant 61)

3.6.4. Sex assigned at birth relevant for risk assessment

GCs from all specialties indicated they use gendered language when sex assigned at birth is relevant for accurate risk assessment (18.0%), either for specific management of cancer risks or with certain inheritance patterns. Participant 2, a cancer GC, explained:

…it is often important to clarify with cancer genetic counseling what sex someone was assigned at birth, and it often is easier to use more simple gendered language (brother/sister, aunt/uncle) to find out this information. Asking someone how many siblings their mom had doesn't really get me all the information I need to make an accurate risk assessment…

Eight GCs (13.1%) mentioned gendered language was helpful during the creation of a pedigree. Some elaborated about this benefit, indicating clarity or risk assessment as reasons:

When taking family history, it is important for me to know the number of aunts vs. uncles, brothers vs. sisters, sons vs. daughters for consideration of inheritance patterns and sex‐specific phenotype (i.e. some autosomal disorders where literature suggests males are affected earlier and more steep progression than females). (Participant 47)

3.6.5. Provider flexibility

Some GCs' (16.4%) responses indicated they adapt to patients by adjusting their language during appointments, demonstrating their flexibility and ability to provide personalized care. Participant 31's reply illustrated this: “…If I have any evidence that a patient prefers to use different language to describe themselves, then I would adjust accordingly to accommodate them.” Participant 1 commented that their patient population was more familiar with gendered language. However, if a patient preferred gender‐inclusive language, they would adapt: “…In these cases, I absolutely change my language to provide individualized counseling and use more non‐gendered terms.”

3.6.6. Gender‐inclusive language has a negative impact

Approximately 10% of GCs reported a negative response from patients when they attempted to use gender‐inclusive language. Participant 4 shared: “I unfortunately see a fair number of patients who actually get offended when I open with non‐gendered language or ask their pronouns…” Another GC remarked that the geographic location of practice impacted their attempts at inclusive language:

I work in a very conservative portion of my state. I frequently get pushback from pregnant patients and their partner when I say things like “XX is typically female and XY is typically male”. I am cautious therefore to rock the boat too much. I've worked with my hospital to get the MFM genetics website gender neutral, but feel more pushback in face to face situations. (Participant 22)

Participant 20 noted they had experienced a personal attack by a patient due to their pronouns:

I use she/they or they/them pronouns and have had patients mock or verbally harass me during sessions because of this. I try to use neutral language when I can, but for my own safety will "revert" back to gendered language if a patient is confused or voices right leaning sentiments.

3.6.7. Habit

Five GCs (8.2%) said their use of gendered language was a habit. Participant 5 candidly stated: “To be completely honest, I think it's more of a habit than anything.” Participant 9 shared their reflection of their use of inclusive language: “I like to think I strive to use gender [inclusive] language as much as possible with patients during any interaction but know I need to break old habits of using gendered language during family history collection and inheritance discussion.”

3.7. Effects on the patient‐provider relationship and trust

We assessed GCs' perceptions of the effect of using gendered language on patient‐provider relationships or trust. 16.9% indicated it had an “extremely” or “moderately” negative effect. Conversely, 18.4% indicated there was no negative effect on patient‐provider relationships or trust. GCs who were more comfortable with gender‐inclusive language and used it more often were not more likely to believe gendered language had a negative effect on patient–provider relationships or trust (p = 0.08 and p = 0.10) (Table 2). Genetic counseling specialty was not associated with opinions about the effect of gendered language on patient–provider relationships or trust (p = 0.59).

3.8. Reasoning for perceived impact (n = 60)

When GCs were asked to explain their reasoning for their perceived impact of gendered language on patient–provider relationships or trust, six major themes were identified from the coded responses: (1) Adherence to patient preferences for personalized care, (2) Gendered language has a negative impact, (3) Gendered language is familiar to most or not noticed, (4) Gender‐inclusive language has a negative impact, (5) Gender‐inclusive language improves trust and signals inclusivity and safety, and (6) Location of practice impacts effects. Two subthemes applied to several of the main themes: (1) Provider assumption about the impact and (2) Small proportion of patients are TGNB. Additional quotes that exemplify themes are included in Table 4.

TABLE 4.

Reasoning for perceived impact of gendered language of patient–provider relationships and trust.

Participants n = 60	n (%)	Illustrative quotations
Theme
Adherence to patient preferences for personalized care	33 (55.0%)	Sometimes gendered language is desired by the patient. In those cases, it does not have a negative effect. If gendered language is not desired by the patient, it can have a very negative effect. (Participant 52)
Gendered language has a negative impact	24 (40.0%)	If a patient is addressed incorrectly, it will affect their trust in the provider, particularly if the provider continues to use the wrong language after being corrected. (Participant 41)
Gendered language is familiar to or unnoticed by most people	16 (26.7%)	For a majority of patients, I think it does not cause harm and that using specific language over more general, (though inclusive) language increases clarity and understanding, which in turn increases trust. (Participant 61)
Gender‐inclusive language has a negative impact	7 (11.7%)	I predict (but don't actually know) that some patients assume that they can trust me less when they hear me use gender neutral terms. (Participant 38)
Gender‐inclusive language improves trust and signals inclusivity and safety	6 (10.0%)	I think even if a patient is not non‐binary or transgender they should know that I am a provider who is inclusive to all, including gender‐non‐conforming people. Hearing me say something that could be offensive to them, or someone they know, could be a rapport breaker. (Participant 5)
Location of practice impacts effects	5 (8.3%)	I think for some patients, it can negatively affect patient‐provider relationships. For other patients, typically my older, rural population who already lack a lot of basic science understanding, using extra language, such as “An individual with an Y chromosome” does not make sense to them, whereas “dad/brother/male” does. In those situations, using gendered language, or the patient's chosen language, does not negatively affect that specific patient‐provider relationship. I try my best to use non‐gendered visual aids and language, but in some cases, I need to simplify a lot of terminology to a 5th‐ or 6th‐grade reading level for the patient to understand. (Participant 8)

3.8.1. Adherence to patient preferences for personalized care

The majority of GCs (55.0%) indicated the impact of gendered language depended on the patient. Several acknowledged the negative impacts it can have for TGNB patients. This is exemplified by Participant 30: “It does not impact all patients, but the patients it DOES impact – it impacts them greatly.” Some mentioned there is no negative impact if patients have a chance to express their preference for gendered or gender‐inclusive language. Participant 58 explained: “As long as opportunities have been given for patient to define their pronouns, and provider uses pronouns to align with patients, which may be gendered terms, it does not affect trust.”

Two GCs commented that gendered language is meaningful to both cisgender and transgender patients' identities and can be necessary to adhere to their preferences. Participant 46 observed: “…I have counseled patients who feel strongly about using gendered language, …they strongly identify with a particular gender (i.e. trans patient really wants to be recognized as male instead of gender neutral)…”.

Two GCs mentioned the infrequency of seeing patients that would be negatively affected by gendered language. They noted in these rare instances, patients were comfortable correcting them. Participant 26 explained:

I would say that the instances in which gendered language is harmful are very few in my experience. If an individual does not align with the gendered language, in my experience, they will indicate so and will be amenable to an apology and change in language.

3.8.2. Gendered language has a negative impact

Regardless of how the GC rated the severity of the negative effect of gendered language on patient‐provider relationships and trust, 40.0% of GCs believed it had negative impacts. Participant 11 noted: “Yes, I do believe continuous use of gendered language will negatively affect patient‐provider relationships and trust, especially if the patient is not cisgender…” Even though some GCs had not seen negative impacts for patients firsthand, they understood why gendered language could be harmful:

To my knowledge, gendered language has not harmed my relationships with patients. That being said, I believe I have only seen a small minority of individuals who identify as transgender. If this population were greater, I would have selected a larger impact since I do believe that gendered language has the potential to alienate these individuals and make them feel less comfortable and understood in the medical system. (Participant 12)

3.8.3. Gendered language is familiar to or unnoticed by most people

About one‐quarter of GCs (26.7%) explained they believed the negative effects are minimal because most of the population uses gendered language and they do not notice it. Participant 55 pointed out: “Most of my patients have genders that would be expected. Therefore, using gendered language is normal for these individuals and doesn't negatively affect patient‐provider relationships.” Similarly, participant one said: “Because with my particular patient population, using gendered language makes sense to the vast majority of my patients…”

3.8.4. Gender‐inclusive language has a negative impact

Similar to reasons given for using gendered language, seven GCs (11.7%) had experienced negative effects when using gender‐inclusive language with their patients. Participant 56 noted: “It is uncomfortable for some patients when we ask how they identify.” Participant 9 specifically noted gender‐inclusive language is offensive in certain cultures:

I've recently had a genetic counseling session working with a family who spoke Spanish as their first language and upon asking about pronouns the family and interpreter proceeded to tell me that it was offensive to inquire about pronouns in their particular culture.

3.8.5. Gender‐inclusive language improves trust and signals inclusivity and safety

Six GCs (10.0%) explained using gender‐inclusive language was valuable to indicate to patients that the clinic or provider is inclusive and safe. Two GCs specifically mentioned this is important because these individuals are often marginalized in healthcare:

…for those patients for whom using non‐gendered [language] is important it can go a long way to ensure that those patients feel comfortable and safe speaking with you. This is especially important given the fact that many individuals for whom using non‐gendered language is most important (individuals who are trans, non‐binary, using donors etc.) are typically marginalized in the healthcare field. (Participant 37)

3.8.6. Location of practice impacts effect

Five GCs (8.3%) commented that their location of practice and patient populations meant inclusivity efforts had a negative impact or they assumed they would. Participant 13 explained: “I work in a catholic hospital with many conservative patients. It's tough to balance losing rapport while being gender affirming…”. Some GCs assumed gender‐inclusive language would be problematic based on their location. Participant 57 said “…We pull from some very conservative places in the US and guess I'm hesitant because I anticipate families would look at my funny for asking.”

4. DISCUSSION

GCs serve a diverse array of patients, including individuals within the TGNB community. Therefore, it is important to understand how GCs communicate inclusivity to foster trusted patient–provider relationships as well as identify reasons for not using gender‐inclusive language to prevent further marginalization of TGNB patients in healthcare. Two‐thirds of GCs in our study reported being comfortable using gender‐inclusive language and just over half indicated they use it often. Many indicated their choice to use gendered language was based on patient preferences and to ensure concepts were communicated clearly, however they recognized the negative impacts it could have for TGNB patients.

To our knowledge, our study is the first to assess GCs opinions about the impact of gendered language on patients and elucidate their reasons for not using inclusive language with patients. Understanding GCs' underlying motivations for using gendered language can identify gaps in training and education and provide guidance on how to improve GCs' comfort with and knowledge of gender‐inclusive language. Most GCs in our study wanted more gender‐inclusivity training or education and felt more standardized, gender‐inclusive visual aids are needed, indicating a willingness to create inclusive spaces for TGNB patients in their clinics.

4.1. Gender affirmation

Gender diverse patients are not usually asked by GCs how they identify, they rarely disclose their gender identity to GCs, and have reported discrimination and misgendering by GCs (Valentine et al., 2023). Misuse of a patient's pronouns can leave patients feeling misunderstood or marginalized by their provider. Sharing pronouns and asking patients theirs is one of the first opportunities to indicate inclusivity to a patient has been shown to be an important way to demonstrate inclusivity for transgender patients (Kattari et al., 2020). The National LGBTQIA+ Health Education Center, the Human Rights Campaign Foundation, and some researchers have suggested disclosing and requesting pronouns is best practice for healthcare providers (Bhatt et al., 2022). Yet most GCs in our study reported never or rarely doing so and did not think it was at least moderately important during appointments. This may be because the GC knows the patient's gender identity if it was asked on intake forms or available in the electronic medical record. Alternatively, the GC may have assumed the identity of the patient was male or female and did not feel the need to ask. However, a 2023 survey found that 60% of transgender adults identify as gender‐nonconforming or nonbinary and approximately half use they/them pronouns (Kirzinger et al., 2023). This highlights the importance of not assuming a person's gender identity fits within the binary of male/female, excluding those that identify as nonbinary or gender‐nonconforming.

Some GCs in our study reported that utilizing gender‐inclusive language resulted in pushback from patients or even a personal attack when disclosing their own pronouns. GCs may also choose to not share or ask pronouns to preserve the patient‐provider relationship or ensure personal safety. This hypothesis is supported by a recent study demonstrating that the effects of verbally providing and requesting pronouns can result in backlash or aggression from certain groups of patients (Shields et al., 2023). The researchers also found that providers wearing pronoun pins, instead of verbally sharing/asking them, did not result in negative reactions from those patients and non‐cisgender patients had higher satisfaction and were more likely to come back to that provider, highlighting a neutral and more subtle way for providers to show their inclusivity.

On the other hand, the majority of GCs did think it was important to ask patients about pronouns on intake forms, indicating they likely understand the importance of using correct pronouns with patients but may be uncomfortable asking them in appointments for reasons noted above. Interestingly, just over half of the GCs in our study reported they were frequently using gender‐inclusive language with patients. These contradictions in reported frequencies may be due to their comfort using other gender‐inclusive language throughout the appointment or in their documentation. GCs in other studies have also reported using gender‐neutral language often with patients, which contradicts patients' perceived frequency of use by GCs in appointments (Valentine et al., 2023).

4.2. Gender‐inclusivity training and education gaps

Healthcare providers, including GCs, desire more education and training on transgender healthcare and do not feel well prepared to care for transgender patients (Berro et al., 2020; Rolle et al., ²⁰²¹; Ruderman et al., ²⁰²¹; Zayhowski et al., ²⁰¹⁹). Systematic reviews of the literature related to cultural competency interventions in other healthcare settings have demonstrated improvements not only in provider knowledge, attitude, beliefs, and skills, but also beneficial effects for patient satisfaction (Catherine Beach et al., 2005; Jongen et al., ²⁰¹⁸).

Almost all GCs in this study reported they had some form of gender‐inclusivity training or education, yet ~85% expressed a desire for more, suggesting that their training or education may have been inadequate. Those that had gender‐inclusivity training included within their genetic counseling program reported feeling more comfortable using gender‐inclusive language and sharing their pronouns, suggesting educational opportunities throughout training could help GCs feel more comfortable with inclusive language practices. Furthermore, GCs with more than 10 h of gender‐inclusivity training and education reported they used gender‐inclusive language more often and were more comfortable with it. Gender‐inclusive language is continuously evolving. Language that may have once been acceptable or preferred may eventually be discarded for more appropriate or precise language. Continuing inclusivity education after the GC training program is necessary to ensure GCs are using the current best practices in caring for patients.

Genetic concepts are complex and effective use of language is crucial when explaining them to patients. Uncertainty surrounding inclusive language for basic genetic concepts or use of gendered visual aids is exclusionary and can damage rapport with patients. Throughout training, GCs cultivate the ability to speak clearly and concisely to facilitate patient understanding of complex topics. Some GCs in this study reported patient confusion while using gender‐inclusive terms, and the GCs reverted to gendered terms for clarity. Others expressed uncertainty about what the correct inclusive language would be. It is possible gender‐inclusivity training related specifically to genetic counseling during graduate school could reduce new GCs' uncertainty surrounding the use of inclusive terminology and language that is unique to the field. Some GC specific education models, such as Amplify (online modules focused on cancer specialty) and Amplify Sprouted (online modules and interactive workshop focused on prenatal/preconception specialty), have already been shown to improve GCs' knowledge and self‐efficacy with gender‐affirming genetic counseling and could be utilized by GC training programs and in clinics (Ernst et al., 2023; Huser et al., ²⁰²²). Educational and training resources for other healthcare professionals, such as The Fenway Institute's LGBTQIA+ Health Education Center (https://www.lgbtqiahealtheducation.org/), could also be utilized by GCs and GC students.

4.3. Risk assessment accuracy

GCs have previously indicated that knowing sex assigned at birth was important for risk assessment and organ‐specific screening and management (Rolle et al., 2021). Similarly, GCs in our study reported accurate risk assessment for patients and their families as a reason for using gendered language. Others indicated they used gendered language during the family history to elicit a person's sex because it is simpler or to prevent confusion. Transgender patients have previously expressed it is the GCs' responsibility to clearly communicate the rationale for asking patients their sex assigned at birth (Barnes et al., 2020). While gendered language may be easier for the GC to use, explanation is necessary to mitigate potential harm of gendered language for TGNB patients in these scenarios. When discussing risks and management, naming body parts instead of associating them with a gender could be reassuring for patients. Gendered descriptions of inheritance patterns can invalidate a person's gender identity. GCs could acknowledge chromosomes don't always align with gender and use visual aids that represent all patients.

4.4. Cultivating positive patient–provider relationships

The Reciprocal Engagement Model has been used to define the clinical practice of GCs and describes five genetic counseling tenants: genetic information is key, relationship is integral to genetic counseling, patient autonomy must be supported, patients are resilient, and patient emotions make a difference (Redlinger‐Grosse et al., 2016, 2017; Veach et al., ²⁰⁰⁷). For GCs to uphold these tenets, use of gender‐inclusive language and visual aids must be improved to build trusting relationships and provide safe, inclusive, and welcoming care to TGNB patients. However, one overarching theme in this study was that using gendered language with patients is in concordance with the tenants of the Reciprocal Engagement Model.

Mirroring patient language and adherence to patient preferences were the most common reasons for using gendered language. In turn, it did not have a negative effect on GCs' relationships or trust with patients. Cultivating a trusting relationship looks different for each unique patient. Adjusting language to match a patient's and being responsive to their emotions and reactions are ways GCs build rapport. While many GCs indicated that gendered language had a slightly or no negative effect, several recognized the importance of gender‐inclusive language and understood the negative impact gendered language can have for some patients.

GCs' responses in this study suggest that inclusive language may not always mean gender neutral language. Assessing preferences allows GCs to adjust their language to match the patient's, building the patient‐provider relationship. Using language with patients that is clear and understandable to teach complex genetic concepts facilitates informed decision making surrounding their healthcare. Some GCs recognized the need to work on breaking habits and learning how to incorporate inclusive language into their practice. Many GCs' responses demonstrated flexibility in their language to reflect patient preferences and respond to their emotions, ultimately adhering to the tenants of the Reciprocal Engagement Model.

4.5. Study limitations

The survey had a small sample size in relation to the total number of practicing GCs in the United States and Canada, and GCs in Region 4, specifically those from Wisconsin, were represented at a higher rate. The results and conclusions presented may not be applicable to all GCs. It is possible a self‐selection bias impacted GCs' completion of the survey, as those with interest in this topic may have been more likely to continue and complete the survey. We attempted to reduce self‐selection bias for our survey in our informed consent by excluding language related to gender or inclusivity and stating the general aim of exploring GCs' communication methods with patients (Appendix S1). Additionally, to reduce potential bias from self‐education between questions, we required participants to complete the survey in one session and they were unable to go back to it later. An unintended consequence may be participants who did not have time to take the survey would not have been able to complete it at a later time. This survey could have benefitted from asking participants how many years they have been a practicing GC. This would have enabled comparisons between newer and older GCs to assess if training programs have been implementing education about counseling gender‐diverse patients in recent years.

4.6. Practice implications

Validation of gender identity is vital for TGNB patients to feel safe and understood (Barnes et al., 2020; Sevelius et al., ²⁰²⁰). Consistent use of pronouns and inclusive language should be utilized throughout the entire genetic counseling encounter to build trust with TGNB patients. Our data suggest a need for more inclusive visual aids in genetic counseling. Additionally, incorporating gender‐inclusivity education specific to genetic counseling in training programs could help GCs feel more comfortable using inclusive language with patients.

4.7. Research recommendations

Future studies may wish to explore TGNB patient perspectives and experiences with genetic counseling to determine where inclusivity can be improved in genetic healthcare spaces. Opportunities to assess patient perceptions of inclusivity and identify areas of improvement could include in clinic spaces, on intake and health history forms, language during appointments, visual aids, in chart documentation, and patient handouts. Given that several GCs used gendered language for clarity, investigating comprehension of gender‐inclusive language among cisgender, transgender, and nonbinary patients could be beneficial to determine what terminology ensures patient understanding. Additional studies could assess genetic counseling training programs to identify specific areas where gender‐inclusivity training and education can be incorporated to prepare GCs to counsel gender‐diverse patients.

5. CONCLUSIONS

GCs must recognize and respond to the unique challenges and risks faced by TGNB patients to begin to dismantle structural inequalities and close healthcare gaps. It is vital GCs consider their language choices with each patient to avoid inadvertently damaging the patient–provider relationship. The language GCs use has the potential to harm and further marginalize TGNB individuals if no opportunities are given to disclose identity and indicate preferences for inclusive language. This study adds insight into GCs' reasoning for using gendered language. It further demonstrates GCs' desire for more education and training to feel knowledgeable and comfortable providing inclusive genetics services to TGNB patients.

AUTHOR CONTRIBUTIONS

Heather Motiff designed the study with critical input from Kristina Garcia, and Elizabeth M. Petty. Heather Motiff recruited participants and collected data. Heather Motiff, Kristina Garcia, Qianqian Zhao, and Elizabeth M. Petty analyzed and interpreted the data. Heather Motiff and Kristina Garcia developed the codebook and coded responses. Heather Motiff wrote the manuscript with critical input from all authors. Elizabeth M. Petty and Kristina Garcia supervised the project. All authors confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

CONFLICT OF INTEREST STATEMENT

Heather Motiff, Kristina Garcia, Qianqian Zhao, and Dr. Elizabeth Petty declare that they have no conflict of interest.

ETHICS STATEMENT

Human Studies and Informed Consent: This study was reviewed and granted an exemption by the University of Wisconsin‐Madison Minimal Risk Research Institutional Review Board (ID# 2022‐1234). The first page of the survey contained consent information, including the voluntary nature of the study, risks, and benefits of the study, contact information for the associate investigator, and assurances that no personal information would be collected. Informed consent was obtained from individuals who voluntarily clicked to continue to the survey. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000.

Animal Studies: No non‐human animal studies were carried out by the authors for this article.

Supporting information

Appendix S1

Appendix S2

Motiff, H. , Garcia, K. , Zhao, Q. , & Petty, E. M. (2025). Use of gender‐inclusive language in genetic counseling to optimize patient care. Journal of Genetic Counseling, 34, e1882. 10.1002/jgc4.1882

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available from the corresponding author upon reasonable request.