Introduction of the genetic counseling profession by teachers in BIPOC-majority high schools.

The field of genetic counseling is racially and ethnically (RE) homogenous, with 90% of genetic counselors identifying as white. As awareness of genetic counseling increases interest in the career, one proposed method to increase the profession's RE diversity is to introduce genetic counseling as a career option to Black, Indigenous, and people of color (BIPOC) students during high school. This study explores the knowledge, presentation, and perceptions of the genetic counseling profession by high school teachers at BIPOC-majority high schools in the United States (US). Science teachers working at public high schools in Massachusetts and New York where greater than 75% of the student body identifies as BIPOC were invited to participate in a survey and focus groups for this study. A total of 456 teachers participated in the survey and a total of seven teachers participated in two focus groups. The survey data revealed that most (91.8%) participating teachers presented genetic counseling, though BIPOC-identifying teachers were more likely to report never presenting genetic counseling than white-identifying teachers. In addition, teachers' knowledge of the genetic counseling career and frequency of presenting it were strongly associated, suggesting that increasing knowledge of genetic counseling among teachers, particularly those who are BIPOC-identifying, could lead to increased presentation to BIPOC students. Major themes that emerged through the focus groups included (1) teachers perceiving genetic counseling as novel and complex in comparison to other healthcare professions, (2) teachers sharing that multiple methods can and should be used when introducing genetic counseling to students, and (3) the notion that teachers could have an important role in introducing genetic counseling to their students. Considering findings from the survey and focus groups, recommendations from this study include increasing awareness of genetic counseling among BIPOC-identifying science teachers at BIPOC-majority high schools, gradually introducing genetic counseling topics to students beginning at a young age, and utilizing student-led teaching activities.

Efforts of diversity and inclusion, cultural competency, and equity in the genetic counseling profession: A snapshot and reflection.

Like its peer health professions, the genetic counseling field recognizes the need for and value of diversity, inclusion, cultural competency, and equity (DICE). However, despite decades of diversity initiatives, minimal gains in the percentage of genetic counselors with minority identities have been realized. In order to gather information about DICE efforts, two surveys were created and distributed to genetic service providers, trainees, and genetic counseling program faculty yielding a total of 76 responses. Additionally, a literature scan was performed to gain an understanding of past and ongoing DICE efforts in the career. Three emerging domains resulted from quantitative and qualitative analysis of the submitted data: (1) Categories of DICE Projects, (2) Parties Carrying Out DICE Projects, and (3) What is Missing? Overall, inclusion efforts are notably underrepresented among DICE projects. Also, DICE efforts are generally under-supported, unfunded, and under-recognized as work-related responsibilities. To enhance DICE within the genetic counseling profession, we recommend developing additional research and projects focused on career inclusion and equity, implementing policies requiring DICE training for leaders within the field, encouraging project evaluation and outcomes dissemination, and creating a well-maintained web-based centralized repository for DICE resources.

Knowledge and opinions of the genetic counseling profession of high school students from underrepresented backgrounds.

The field of genetic counseling began in the 1960s, with young, white women quickly comprising the profession's core constituency. The field has made many efforts to increase its racial and ethnic diversity with little success. The 2019 Professional Status Survey, distributed by the National Society of Genetic Counselors, reported that 90% of the respondents identified as white, 95% as female, and 70% under the age of 40. This qualitative study explored the current career interests of high school students from underrepresented backgrounds as well as their understanding of and thoughts about the genetic counseling profession. Sixteen semi-structured interviews were performed with high school students from the Boston Preparatory Charter School. Major themes emerged reflecting that the participants (a) were science-minded and empathetic, (b) had not heard of genetic counseling but were interested in learning more about it, and (c) provided perspectives different from those historically over-represented in the genetic counseling workforce. Implications for genetic counselors include the need for improved recruitment strategies accessible to individuals of underrepresented backgrounds who might be interested in the profession and the importance of acknowledging that valuable contributions and improvements to the field could be made by such individuals. Future studies could encompass a larger sample size; explore the interests, opinions, and perspectives of high school students with minority identities other than racial and/or ethnic minority; or assess the success of current or new recruitment methods.

Creation and utility of 'Boston Minority Genetic Counselors'.

The genetic counseling profession began shortly after the Civil Rights Movement, before effective strategies for inclusion of racial minorities had emerged. Given the historical context of the field and the continued lack of diversity in the professional body, inclusion among genetic counselors of social minority backgrounds is important to examine and address. A group of genetic counselors in the Boston area with social minority backgrounds initiated the Boston Minority Genetic Counselors (BMGC) group to bolster interconnection and support for themselves and their local genetic counselors and trainees of social minority backgrounds. In this paper, we describe the formation of the BMGC and its ongoing work. Future directions include using the BMGC model and/or that of similar organizations, such as the Minority Genetic Professionals Network, as a template to create similar genetic counseling groups that provide support around topics of social minority identities and promote sentiments of inclusion across the profession.

Genetic counselors' comfort and knowledge of cancer risk assessment for transgender patients.

Transgender individuals are often their own health advocates, especially if seeking hormone therapies and gender-affirmation surgeries. While literature exists in the genetic counseling field that explores the relationship between genetic counselors and lesbian, gay, and bisexual patients, there is less research that directly addresses transgender patients. This study assessed cancer genetic counselors' education, knowledge, and comfort with transgender health issues, such as hormone therapies and gender affirmation surgeries. A survey evaluated comfort with relevant vocabulary terms and performance on written case vignettes to approximate how cancer genetic counselors would facilitate conversations with transgender patients about cancer risks. Conclusions drawn in this study are representative of this subpopulation, which is skewed toward a younger population. Mean similarity between responses and predetermined correct answers on the case vignettes was 78.5%. A majority of participants endorsed wanting more education on implications of transgender identity on cancer risk assessment, a need underscored by some participants reporting their discomfort asking about gender pronouns. There was an overall lack of consensus on breast cancer screening based on estrogen therapy, pedigree symbol use, and testing of a minor prior to hormone therapy. This study adds to the growing literature that highlights the educational needs specific to genetic counseling to promote individualized care for transgender patients.

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.

The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services. This report summarizes the formation, implementation, and outcomes of the 2019 Diversity and Inclusion Task Force (TF) of the National Society of Genetic Counselors (NSGC), including the group's responses to their allotted charges from the NSGC Board of Directors. The recommendations generated by the TF aim to aid in the (1) establishment of infrastructure for ongoing diversity, inclusion, and equity (DEI) work by collaborating with a DEI organizational expert and forming a DEI advisory group within the NSGC, (2) development of specific short-term DEI initiatives, and (3) identification of seven areas of focus areas that must be addressed in order to create meaningful and measurable DEI improvements. The efficacy of these recommendations will depend on the consistency and creativity of implementation, shared responsibility, sufficient resources allocated to DEI initiatives, and measurable outcomes.

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy.

Importance: Racial differences are recognized in multiple cardiovascular parameters, including left ventricular hypertrophy and heart failure, which are 2 major manifestations of hypertrophic cardiomyopathy. The association of race with disease expression and outcomes among patients with hypertrophic cardiomyopathy is not well characterized. Objective: To assess the association between race, disease expression, care provision, and clinical outcomes among patients with hypertrophic cardiomyopathy. Design, Setting, and Participants: This retrospective cohort study included data on black and white patients with hypertrophic cardiomyopathy from the US-based sites of the Sarcomeric Human Cardiomyopathy Registry from 1989 through 2018. Exposures: Self-identified race. Main Outcomes and Measures: Baseline characteristics; genetic architecture; adverse outcomes, including cardiac arrest, cardiac transplantation or left ventricular assist device implantation, implantable cardioverter-defibrillator therapy, all-cause mortality, atrial fibrillation, stroke, and New York Heart Association (NYHA) functional class III or IV heart failure; and septal reduction therapies. The overall composite outcome consists of the first occurrence of any component of the ventricular arrhythmic composite end point, cardiac transplantation, left ventricular assist device implantation, NYHA class III or IV heart failure, atrial fibrillation, stroke, or all-cause mortality. Results: Of 2467 patients with hypertrophic cardiomyopathy at the time of analysis, 205 (8.3%) were black (130 male [63.4%]; mean [SD] age, 40.0 [18.6] years) and 2262 (91.7%) were white (1351 male [59.7%]; mean [SD] age, 45.5 [20.5] years). Compared with white patients, black patients were younger at the time of diagnosis (mean [SD], 36.5 [18.2] vs 41.9 [20.2] years; P < .001), had higher prevalence of NYHA class III or IV heart failure at presentation (36 of 205 [22.6%] vs 174 of 2262 [15.8%]; P = .001), had lower rates of genetic testing (111 [54.1%] vs 1404 [62.1%]; P = .03), and were less likely to have sarcomeric mutations identified by genetic testing (29 [26.1%] vs 569 [40.5%]; P = .006). Implantation of implantable cardioverter-defibrillators did not vary by race; however, invasive septal reduction was less common among black patients (30 [14.6%] vs 521 [23.0%]; P = .007). Black patients had less incident atrial fibrillation (35 [17.1%] vs 608 [26.9%]; P < .001). Black race was associated with increased development of NYHA class III or IV heart failure (hazard ratio, 1.45; 95% CI, 1.08-1.94) which persisted on multivariable Cox proportional hazards regression (hazard ratio, 1.97; 95% CI, 1.34-2.88). There were no differences in the associations of race with stroke, ventricular arrhythmias, all-cause mortality, or the overall composite outcome. Conclusions and Relevance: The findings suggest that black patients with hypertrophic cardiomyopathy are diagnosed at a younger age, are less likely to carry a sarcomere mutation, have a higher burden of functionally limited heart failure, and experience inequities in care with lower use of invasive septal reduction therapy and genetic testing compared with white patients. Further study is needed to assess whether higher rates of heart failure may be associated with underlying ancestry-based disease pathways, clinical management, or structural inequities.