Perceptions of the Minority Tax Experienced by Faculty and Students Underrepresented in Medicine at the University of Wisconsin.

INTRODUCTION: The minority tax in academic medicine can be defined as the additional responsibilities placed on underrepresented in medicine (URiM) faculty, staff, and students in the name of diversity. Often this looks like participating in additional diversity committees, recruitment efforts, and mentorship activities. These extra responsibilities often are not recognized, not included in promotions, and take time from other clinical, research, and traditional scholarly responsibilities. OBJECTIVES: There is a significant gap in the literature examining the experiences of URiM-identifying faculty and students in relation to the minority tax. Our goal was to do a quality improvement project to explore this gap through interviewing URiM-identifying faculty and conducting focus groups with URiM-identifying students, with the goal of making recommendations to help reduce the minority tax burdens to this community. METHODS: A scoping literature review on the minority tax burden in academic medicine was used to inform the development of questions to use in focus groups of URiM University of Wisconsin School of Medicine and Public Health (UWSMPH) students and interviews of URiM UWSMPH faculty members. After development of a facilitation guide, we conducted three 1-hour focus groups with 14 students who identified as URiM and did eight 30-minute interviews with faculty who identified as URiM. A codebook was generated using inductive analysis after reviewing transcripts. Coding was performed independently with 2 separate coders in order to ensure inter-coder reliability. RESULTS: Ninety-one percent of students and 62.5% of faculty endorsed experiencing the minority tax at UWSMPH. Faculty also reported increasing feelings of support due to UWSMPH programs that support URiM faculty. Students reported the minority tax being central to their role as URiM students. Both students and faculty reported that the additional burdens of the minority tax took time away from traditional scholarly activities that were essential for promotion (faculty) or residency (students). CONCLUSIONS: The minority tax burden experienced by URiM faculty and students may negatively affect their careers, as they note spending more time on activities that may not be valued for promotion. It is essential to address these burdens in order to achieve equity within the medical institution.

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

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.

LGBTQ+ health education for medical students in the United States: a narrative literature review.

INTRODUCTION: People who identify as lesbian, gay, bisexual, transgender, queer/questioning, intersex, and other sexual/gender minorities (LGBTQ+) may experience discrimination when seeking healthcare. Medical students should be trained in inclusive and affirming care for LGBTQ+ patients. This narrative literature review explores the landscape of interventions and evaluations related to LGBTQ+ health content taught in medical schools in the USA and suggests strategies for further curriculum development. METHODS: PubMed, ERIC, and Education Research Complete databases were systematically searched for peer-reviewed articles on LGBTQ+ health in medical student education in the USA published between 1 January 2011-6 February 2023. Articles were screened for eligibility and data was abstracted from all eligible articles. Data abstraction included the type of intervention or evaluation, sample population and size, and key outcomes. RESULTS: One hundred thirty-four articles met inclusion criteria and were reviewed. This includes 6 (4.5%) that evaluate existing curriculum, 77 (57.5%) study the impact of curriculum components and interventions, 36 (26.9%) evaluate student knowledge and learning experiences, and 15 (11.2%) describe the development of broad learning objectives and curriculum. Eight studies identified student knowledge gaps related to gender identity and affirming care and these topics were covered in 34 curriculum interventions. CONCLUSION: Medical student education is important to address health disparities faced by the LGBTQ+ community, and has been an increasingly studied topic in the USA. A variety of curriculum interventions at single institutions show promise in enhancing student knowledge and training in LGBTQ+ health. Despite this, multiple studies indicate that students report inadequate education on certain topics with limitations in their knowledge and preparedness to care for LGBTQ+ patients, particularly transgender and gender diverse patients. Additional integration of LGBTQ+ curriculum content in areas of perceived deficits could help better prepare future physicians to care for LGBTQ+ patients and populations.

Picture this: Evaluating the efficacy of genetic counseling visual aids.

Visual aids have been validated as effective tools for educating patients in a variety of medical settings. However, research exploring the efficacy and potential benefit of genetic counseling visual aids is lacking. To begin to address this gap, this study assessed participant knowledge of genetic counseling concepts after viewing either visual or non-visual educational content. Participants were recruited from the general population using the crowdsourcing platform Mechanical Turk. Wilcoxon rank-sum tests were carried out to evaluate differences in knowledge survey scores between the visual and non-visual groups, and Poisson regression models were fitted to evaluate these differences across a variety of demographic backgrounds. The visual group had equal or higher scores than the non-visual group across all analyses. The difference in group scores was statistically significant for autosomal recessive inheritance knowledge scores (p < 0.05). In addition, this difference was approaching significance for higher-level knowledge scores (p = 0.05) and total knowledge scores in individuals who have not completed post-secondary education (p = 0.05). These results indicate that visual aids improve knowledge of specific genetic counseling concepts such as inheritance patterns; the education of which is often integral to genetic counseling. These results also indicate that visual aids may facilitate a deeper understanding of genetic counseling concepts and may be particularly valuable for individuals with lower educational backgrounds. Together, the results of this study support the inclusion of visual aids in genetic counseling education to help improve patient understanding and the accessibility of genetic healthcare information.

Telehealth in Genetics: The Genetic Counselor Perspective on the Utility of Telehealth in Response to the COVID-19 Pandemic in Wisconsin.

BACKGROUND: Due to the COVID-19 pandemic, many genetics clinics across the country were prompted to integrate telephone visits and videoconferencing into their practice to promote the safety of patients and clinic staff members. Our study examined providers' perspectives on the utility and effectiveness of these telehealth-based clinic visits in response to the COVID-19 pandemic in Wisconsin. METHODS: An anonymous Qualtrics survey was distributed via email in October 2020 to all members of the Wisconsin Genetic Systems Integration Hub and the Wisconsin Genetic Counselor Association. Current clinical genetic providers were eligible to participate in the survey. The survey assessed providers' experiences and perceptions toward utilizing telehealth in delivering clinical genetic services to their patients during the pandemic. RESULTS: Forty-seven currently practicing clinical genetic counselors in Wisconsin either partially or fully completed the survey. Nearly all respondents somewhat (23%) or strongly (75%) wanted to incorporate telehealth in the future, primarily because of perceived improvements in clinic functioning. Patients with suboptimal telecommunications capacities were considered the most challenging aspect of telehealth, and better technology support was the most frequently cited strategy for addressing current telehealth limitations. CONCLUSION: Clinical genetic counselors in Wisconsin generally reported positive experiences integrating telehealth into their patient care during the COVID-19 pandemic. Many counselors see telehealth as a way to increase access to genetic services and, with better technology support from their intuitions, would support utilizing telehealth in their clinical practice.

Learners With Disabilities: An Important Component of Diversity, Equity, and Inclusion in Medical Education.

The population of people with physical or sensory disabilities is growing, yet they are underrepresented in the medical and other health professions. At the same time, there is a clear need to enhance didactic curricular content and clinical training experiences that explicitly address the full scope of medical needs that individuals with disabilities have. These gaps represent missed opportunities to advance the health of an important, underserved, and growing population. Based on the authors' experience, the inclusion of people with physical or sensory disabilities in medical education greatly enhances the education of all learners and the professional development of faculty and staff, providing invaluable perspectives on the significant abilities of individuals with diverse physical or sensory disabilities. There are additional efforts and costs associated with the education of a medical student who is blind, is deaf, uses a wheelchair, or has another disability. But based on the authors' experience, it is clear that the societal return on investment is enormous, and the costs associated with a failure to embrace full inclusivity are much greater. Medical education institutions should recognize the population of people with disabilities as a vital component of their commitment to diversity, equity, and inclusion and strive to provide inclusive education for learners with disabilities.

Nine Successful Pregnancy Outcomes in a Woman With Vascular Ehlers-Danlos Syndrome: A Case Report and Literature Review.

INTRODUCTION: The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the COL3A1 gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy. CASE PRESENTATION: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications. DISCUSSION: While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies. CONCLUSIONS: Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.

Preparing genetic counselors to serve Native American communities.

As a medical specialty, genetic counseling (GC) espouses cultural sensitivity, a patient-centered approach, and an eye for the individual, familial, and community-wide implications of genetics and genomics in medicine. Within the past decades, the field of GC has recognized and attempted to address a need for the greater diversity of providers and practice settings that will help to address health inequities across underrepresented communities (Channaoui et al., 2020). Accreditation for GC training programs mandates equipping students with multicultural sensitivity and knowledge on health disparities. Currently however, there are limited published data about how GC programs are accomplishing these aims for Native American individuals and communities. Furthermore, there are limited published data on the unique needs and perspectives of Native Americans who may seek GC services. This disconnect may pose barriers for genetic counselors who aim to provide respectful and relevant care to Native American patients. Education of GC students is one important way to set the tone for a lifetime of practice and to inspire awareness and action toward alleviating disparities. Thus, we surveyed GC training programs in North America to investigate how they are working to (a) address disparities in Native American professional representation and student enrollment, (b) deliver culturally relevant curricula and clinical opportunities that serve the needs of Native Americans, and (c) positively engage Native American communities in North America. We found that reported recruitment efforts, curricula content, clinical opportunities, and community engagement efforts to address the needs of Native American are limited across GC training programs surveyed. By bringing awareness to current methods, success factors, and barriers in this space, we hope to open the door for meaningful partnerships between leaders of Native American communities and GC training programs in the pursuit of greater equity.

The impact of insurance on equitable access to non-invasive prenatal screening (NIPT): private insurance may not pay.

Non-invasive prenatal testing (NIPT), is a prenatal screening test for chromosomal aneuploidies (trisomy 21, trisomy 18, and trisomy 13). While women under 35 years of age with no other risk factors are considered low risk for pregnancies with aneuploidy, most babies with aneuploidy are born to low-risk women. Across the USA, including Wisconsin, many private insurances do not cover initial NIPT for low-risk women, creating a potential financial burden that may limit patient selection of NIPT. Low-risk women with public insurance in Wisconsin are covered for NIPT. This pilot study determined if a difference exists in NIPT uptake based on insurance type in low-risk pregnant women in their first trimester. It also explored genetic counselor perspectives on how insurance coverage for NIPT is addressed with patients. Women with public insurance were 3.43 times more likely to have NIPT as an initial screen for aneuploidy than women with private insurance, indicating that insurance coverage may present a barrier to care. Additionally, analysis showed no evidence of different demographic variables interacting with another to impact outcome after allowing for insurance coverage (X214 = 14.301, p = 0.428). Our data also suggests that more genetic counselors would recommend NIPT to patients if insurance coverage was not a barrier and were more likely to discuss financial risks associated with NIPT when a patient had private insurance. We conclude that some women cannot choose one of the safest and most sensitive prenatal aneuploidy screening tests due to financial barriers put into place by the lack of insurance coverage.

Exploring empathy in genetic counseling students and new genetic counselors.

Although empathy is widely recognized as an important trait for healthcare professionals, little research has examined empathy attributes in genetic counselors. Decreases in empathy levels have been recognized in other healthcare professionals over the span of their professional education program. This research sought to characterize empathy levels in first- and second-year genetic counseling students and recent (2017) graduates, and to determine whether there are differences in empathy levels displayed by genetic counseling students at different points in their training. Additionally, this research examined whether experiences prior to graduate school, including specific aspects of advocacy experience, correlated with differences in self-reported empathy levels among genetic counseling students and new genetic counselors. An online survey was administered to first- and second-year genetic counseling students and practicing genetic counselors to determine whether there were differences in empathy levels between these groups, and to analyze for associations between pre-graduate school advocacy work and levels of empathy as measured by the Interpersonal Reactivity Index (IRI). We identified significant differences in self-reported empathy levels in several of the subscales of the IRI between first-year students and second-year students, and between first-year students and recent graduates. Furthermore, we identified significantly lower scores on the personal distress subscale of the IRI in participants who engaged in advocacy work for longer than 12 months when compared to participants who engaged in advocacy work for between 6 and 12 months. Other advocacy and educational characteristics were also examined for correlations with IRI scores, and no significant associations were identified between these additional factors and self-reported empathy scores. Practice implications and recommendations for future research are discussed.

An exploration of genetic counseling information needs and information-seeking behaviors.

Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information available to genetic counselors. However, few published studies on genetic counseling information needs and seeking behaviors exist, and none look at information use across the profession. Meanwhile, a substantial body of research exists on this topic for other healthcare professionals, providing an evidence base supporting profession-tailored information-related services and resources. The purpose of this cross-sectional study was to explore genetic counseling information needs and seeking behaviors and to compare these needs and seeking behaviors across genetic counseling students and genetic counselors broadly, as well as to explore differences across various professional subgroups of genetic counselors. Genetic counselors and genetic counseling students were recruited via the National Society of Genetic Counselors and accredited genetic counseling programs to complete an online survey assessing information needs and seeking behaviors. Respondents were asked how often they used 70 different resources; whether 16 specific situations required additional information and how long it would take to get it and about specific barriers to obtaining that information. The results included a range of observations, including that GeneReviews and PubMed are frequently used resources across all respondents, that genetic counselors working 0-5 years are significantly more likely to need additional information when counseling patients from different cultural backgrounds than those working 6+ years, and that not having enough time is a common barrier to getting information across various situations. These results provide initial evidence to guide additional study on the efficient use and provision of information within the genetic counseling field.

Alternative option labeling impacts decision-making in noninvasive prenatal screening.

Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision-making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision-making has identified that labeling may have unanticipated effects on patient perceptions and decision-making processes. This Internet-administered study explored the impact of option labeling on the noninvasive prenatal screening (NIPS) selections of US adults. A total of 1,062 participants were recruited through Amazon Mechanical Turk (MTurk) and randomly assigned to one of three possible label sets reflecting provider-derived and industry-derived option labels used in prenatal screening. Multinomial logistic regression analysis showed option labeling had a statistically significant impact on the NIPS selections of study participants (p = .0288). Outcomes of the Satisfaction with Decision Scale (SWD) indicated option labels did not play a role in participant satisfaction with screening selection. The results of this study indicate a need for further evaluation of the impact NIPS option labeling has on patient screening decisions in real-world clinical interactions. Clinical providers and testing laboratories offering NIPS should give careful consideration to the option labels used with prenatal screening so as to minimize influence on patient screening selection and decision-making processes.

Genetic counselor workforce generational diversity: Millennials to Baby Boomers.

There are currently three generations of individuals that make up the genetic counselor workforce: Baby-Boomers, Generation X, and Millennials. These generations are presumed to be shaped by the historical, cultural, and social events that occurred during critical developmental periods. Understanding the underlying perceptions and viewpoints of genetic counselors regarding the multigenerational workforce may facilitate successful working relationships as well as recognition of the perceived unique characteristics that each generation offers. An online survey was distributed to practicing genetics counselors (GC) and genetic counseling students through the National Society of Genetic Counselors and the American Board of Genetic Counseling to elicit opinions about the perceived characteristics or skills of genetic counselors in each generation. Respondents (n = 407, estimated 10% response) preferentially assigned certain traits or skills to specific generations including their own. Findings suggest GC Baby Boomers were least likely to be described as "comfortable with phone or skype counseling" (p < 0.0001), Millennial GC, were least often assigned the term "Strong respect for authority" (p < 0.0005) and Generation X GC were most likely to be described as "Does not ask for feedback" (p < 0.05). These research findings demonstrate that GC perceive that their colleagues from every generation have unique attributes to bring to the profession and these attributes match those typically described in the U.S. literature about non-GC cohorts.

Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor.

The impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding-that of the changes in their own obstetric care perceived by genetic counselors while working within the prenatal setting and being pregnant themselves. As a result of these changes, considerations about when to disclose a pregnancy to colleagues along with how to integrate personal and professional needs as a pregnant prenatal genetic counselor surfaced. Additional findings, practice implications, and research recommendations are discussed.

Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.

Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives. In the present study, 423 genetic counselors and genetic counseling students completed a 70-item web-based survey that explored genetic counselors' experiences counseling family members outside of a clinic setting. The majority (73%; n = 301/410) of respondents have been asked to provide genetic counseling. Over half (57%; n = 257/423) provided counseling, personalized genetic information or risk assessment to family members. Only a small fraction of respondents (11%; n = 45/420) responded that they received any formal training in their graduate education, or in any other capacity that addressed the issue of how genetic counselors should respond to genetic counseling requests made family members. Those who have were less likely to provide genetic counseling to a family member (p < 0.05). Respondents who provided genetic counseling to relatives were significantly more likely to think their colleagues would do the same. Those who never provided genetic counseling to relatives were more likely to think their colleagues would refer to an unrelated genetic counselor (p < 0.0001). We highlight how our results have clinical and professional implications and provide suggestions to generate discussion among genetic counselors on how they might respond to requests for counseling from family members.

Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective.

The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters' thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study. Six were interviewed by telephone. Participants had worked with a variety of providers including geneticists, genetic counselors, primary care physicians, and oncologists. Factors identified by Hmong interpreters that made interpretation of content difficult in clinical genetics sessions included: time constraints, technical terms, and unique cultural perspectives of Hmong patients. While all respondents felt their primary role was to interpret session content as close to verbatim as possible, there was notable variation in the description of their interpretation style and other perceived roles in the genetic counseling session. Cultural issues genetics providers could consider when working with Hmong patients and different style issues when working with Hmong interpreters are discussed. Ideas for future studies and suggestions to improve communication with Hmong patients are explored.

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.

The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men. Therefore, this study aimed to examine cancer incidence and related risk factors in men with low CGG repeat length in the FMR1 gene. We utilized subject data from the Marshfield Personalized Medicine Research Project to compare cancer-related diagnoses between 878 males with low CGG repeat length (< 24 repeats) and 368 male controls with CGG repeats in the normal range (24 to 40 repeats). We utilized ICD-9 codes to examine various cancer diagnoses, family histories of cancer, other non-malignant neoplasms, cancer surveillance, and genetic susceptibility. Men with low CGG repeats were identified to have significantly higher rates of family history of any cancer type (p = 0.011), family history of any BRCA-associated cancer (p = 0.002), and specifically, family history of prostate cancer (p = 0.007). The mean number of BRCA-associated cancer diagnoses (breast, prostate, pancreatic, and melanoma) per individual in the low CGG group was slightly higher than that of the control group, with this difference trending toward significance (p = 0.091). Additionally, men with low CGG repeats had significantly higher rates of connective/soft tissue neoplasms (p = 0.026). Additional research is needed to replicate the observations reported in this preliminary exploratory study, particularly including verification of ICD-9 codes and family history by a genetic counselor.

Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives.

The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors' interviews were transcribed and analyzed for emergent themes. Each of the counselors had served Hmong patients in a variety of clinics and possessed counseling experience ranging from approximately one to greater than 20 years. Interviews highlighted strengths and challenges in genetic counseling sessions with Hmong patients with limited English proficiency in each of five categories: 1) relevant training during graduate school, 2) session preparation, 3) content of the counseling session, 4) perception of Hmong culture, and 5) reflections on working with Hmong interpreters. Cultural awareness and education in training programs were highlighted by all genetic counselors as valued components to patient care. All interviewees had worked with professional Hmong medical interpreters, but had different expectations for the interpreter with whom they worked. To help improve genetic services for Hmong individuals in the United States, we offer suggestions to improve some of the challenges mentioned, and recommend further studies to investigate the genetic counselor and interpreter relationship.