Training the next generation of genomic medicine providers: trends in medical education and national assessment.

PURPOSE: To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®). METHODS: A team of clinical genetics educators performed an analysis of the representation of genetics content on a robust sample of recent Step 1, Step 2 Clinical Knowledge (CK), and Step 3 examination forms. The content of each question was mapped to curriculum recommendations from the peer reviewed Association of Professors of Human and Medical Genetics white paper, Medical School Core Curriculum in Genetics, and the USMLE Content Outline. RESULTS: The committee identified 13.4%, 10.4%, and 4.4% of Steps 1, 2 and 3 respectively, as having genetics content. The genetics content of the exams became less pertinent to the questions from Step 1 to 3, with decreasing genetics content by exam and increasing percentages of questions identified as having genetics content in the distractors only. CONCLUSION: The current distribution of genetics in USMLE licensing examinations reflects traditional curricular approaches with genetics as a basic science course in the early years of medical school and de-emphasizes clinical relevance of the field. These observations support the notion that further integration is required to move genetics into the clinical curriculum of medical schools and the clinical content of USMLE Step exams.

Participatory Genomic Testing as an Educational Experience.

Several institutions have incorporated participatory genomic testing into their curricula to engage students in experiential learning, and this has raised ethical concerns. We summarize strategies for managing these concerns and review evidence of the influence of this experiential approach on student knowledge and attitudes towards genomics.

Genomic education for the next generation of health-care providers.

Historically, medical geneticists and genetic counselors have provided the majority of genetic services. Advances in technology, reduction in testing costs, and increased public awareness have led to a growing demand for genetic services in both clinical and direct-to-consumer spaces. Recent and anticipated changes in the workforce of genetic counselors and medical geneticists require a reexamination of the way we educate health-care providers and the means by which we provide access to genetic services. The time is ripe for rapid growth of genetic and genomic services, but to capitalize on these opportunities, we need to consider a variety of educational mechanisms to reach providers both within and beyond the traditional genetic counseling and medical genetics sectors, including nurses, physician assistants, and nongenetics physicians. This article summarizes the educational efforts underway in each of these professions.

Disparities between online assisted reproduction patient education for same-sex and heterosexual couples.

STUDY QUESTION: Does the prevalence of online education in fertility center websites differ for lesbian, gay, bisexual, transgender (LGBT) couples compared to online education for heterosexual couples? SUMMARY ANSWER: This review of fertility center websites showed that the majority of websites with patient education for heterosexual couples do not have similar materials for LGBT couples. WHAT IS KNOWN ALREADY: In order to have biologically related children, LGBT individuals or couples utilize assisted reproductive technologies (ART). Fertility clinic websites provide online education to familiarize patients with the different ART procedures; however, no studies have examined the prevalence of educational information for LGBT couples compared to information for heterosexual couples utilizing ART. STUDY DESIGN, SIZE AND DURATION: This website review evaluated Centers for Disease Control and Prevention (CDC)-reported fertility center websites. Websites were reviewed in 2014 using the latest 2011 CDC report, and reviewed again in 2015 with the latest 2013 CDC report. PARTICIPANTS/MATERIALS, SETTING, METHOD: Patient education information was coded using categories determined after a sample review, and differences were analyzed with χ(2) tests, with P-values calculated with Fisher's exact test. MAIN RESULTS AND THE ROLE OF CHANCE: In 2014, 31.1% (121) of 389 websites with information for heterosexual couples also contained information for LGBT couples. In 2015, the number of fertility centers with information for LGBT couples increased by 52.9% to 185 (P < 0.001) of 407 (45.5%) fertility center websites. However, the majority of fertility clinic websites (54.5%) with information for heterosexual couples still do not include information specific to LGBT couples. LIMITATIONS, REASONS FOR CAUTION: The lack of online information on fertility center websites may not directly reflect the quality of care LGBT individuals or couples receive in the clinic, and the effect of this absence of online information on the clinical experiences of LGBT patients is unknown. WIDER IMPLICATIONS OF THE FINDINGS: These findings add to the growing body of work showing disparities in the treatment of LGBT persons compared to the overall population. To overcome these discrepancies, healthcare providers should adapt their practice to include this growing and underserved patient population. STUDY FUNDING/COMPETING INTERESTS: Funding was provided by the Medical Student Summer Research Scholarship, Barbur Khalique Foundation. There are no competing interests.

Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education.

PURPOSE: Advances in genomic technologies are transforming medical practice, necessitating the expertise of genomically-literate physicians. This study examined 2013-2014 trends in genetics curricula in US and Canadian medical schools to ascertain whether and how curricula are keeping pace with this rapid evolution. METHODS: Medical genetics course directors received a 60-item electronic questionnaire covering curriculum design, assessment, remediation of failing grades, and inclusion of specific topics. RESULTS: The response rate was 74%. Most schools teach the majority of genetics during the first 2 years, with an increase in the number of integrated curricula. Only 26% reported formal genetics teaching during years 3 and 4, and most respondents felt the amount of time spent on genetics was insufficient preparation for clinical practice. Most participants are using the Association of Professors of Human and Medical Genetics Core Curriculum(1) as a guide. Topics recently added include personalized medicine (21%) and direct-to-consumer testing (18%), whereas eugenics (17%), linkage analysis (16%), and evolutionary genetics (15%) have been recently eliminated. Remediation strategies were heterogeneous across institutions. CONCLUSION: These findings provide an important update on how genetics and genomics is taught at US and Canadian medical schools. Continuous improvement of educational initiatives will aid in producing genomically-literate physicians.

Genetics of Alzheimer's Disease in the African American Population.

Black/African American (AA) individuals have a higher risk of Alzheimer's disease (AD) than White non-Hispanic persons of European ancestry (EUR) for reasons that may include economic disparities, cardiovascular health, quality of education, and biases in the methods used to diagnose AD. AD is also heritable, and some of the differences in risk may be due to genetics. Many AD-associated variants have been identified by candidate gene studies, genome-wide association studies (GWAS), and genome-sequencing studies. However, most of these studies have been performed using EUR cohorts. In this paper, we review the genetics of AD and AD-related traits in AA individuals. Importantly, studies of genetic risk factors in AA cohorts can elucidate the molecular mechanisms underlying AD risk in AA and other populations. In fact, such studies are essential to enable reliable precision medicine approaches in persons with considerable African ancestry. Furthermore, genetic studies of AA cohorts allow exploration of the ways the impact of genes can vary by ancestry, culture, and economic and environmental disparities. They have yielded important gains in our knowledge of AD genetics, and increasing AA individual representation within genetic studies should remain a priority for inclusive genetic study design.

Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling.

Clinician bias negatively impacts the healthcare received by marginalized communities. In this study, we explored factors that influence clinician and trainee bias against individuals with intellectual disabilities and its impact on clinical judgment in prenatal genetic testing settings. Specifically, we examined bias toward a fetus with a higher chance of developing a disability. We compared genetics specialists with their non-expert counterparts. This web-based study included clinical vignettes, implicit association tests (IATs), and an educational module. 595 participants were recruited via their institution or professional society. We conducted statistical analyses, including regression models controlling for key demographic characteristics, to analyze recommendation patterns and degree of change after the module. Genetics expertise strongly correlated with appropriate testing recommendation when the patient would not consider pregnancy termination (r = 1.784 pre-module, r = 1.502 post-module, p < 0.01). Factors that influenced pre-module recommendation to test include increased age (r = -0.029, p < 0.05), high religiosity (r = 0.525, p < 0.05), and participant personal preference against testing (r = 1.112, p < 0.01). Responses among participants without genetics expertise improved after the educational module (Z = -4.435, p < 0.01). 42% of non-experts who answered inappropriately changed their answer to match guidelines after the module. Individual bias, along with structural and institutional bias, permeates family planning encounters and significantly decreases quality of care. We demonstrate here that anti-bias training is effective, particularly for non-expert providers, and it can improve the care provided to individuals with intellectual disability. Evidence-based training such as this one can help providers make appropriate genetic counseling recommendations.

Deconstructing Racism, Hierarchy, and Power in Medical Education: Guiding Principles on Inclusive Curriculum Design.

In the context of current U.S. racial justice movements, analysis of racism in medicine within medical education is a critical task for all institutions. To educate the next generation of physicians about racism in medicine and out of concern that the curriculum required critical assessment and change, a group of students and faculty at Boston University School of Medicine (BUSM) initiated a longitudinal curricular analysis through a vertical integration group, commissioned by the Medical Education Committee, from May 2019 to June 2020. The curriculum analysis and the major outcomes and guiding principles that emerged from it are described as a path forward, toward a more inclusive curriculum. The major elements of this analysis included a comprehensive internal curricular assessment and an external assessment of peer institutions that led to the development of key curricular recommendations and overarching equity and specific racially focused equity competencies. The curricular recommendations fall into the following domains: (1) challenging the persistence of biological/genetic notions of race, (2) embedding structural practices in medical education to dismantle racism in medicine, and (3) promoting institutional climate change. Initial steps to implement these recommendations are described. The authors believe that the historic and present reality of racism in America and in medicine has impacted medical education specifically, and more broadly, the practice of medicine, trainee experience, and patient outcomes. The key findings of the BUSM analysis are transferable to other medical education institutions, and the described review process can support peer institutions as they engage in the imperative work of institutional reflection and addressing the salient ideas and practices that uphold racism in medicine.

Project Inclusive Genetics: Exploring the impact of patient-centered counseling training on physical disability bias in the prenatal setting.

PURPOSE: There is robust research examining the negative impact of racial and socioeconomic implicit bias on healthcare provider clinical decision-making. However, other under-studied important biases are likely to impact clinical care as well. The goal of this study was to explore the presence of bias against people with physical disability among a heterogeneous group of healthcare workers and trainees and to evaluate the effect of implicit association testing and an educational module on this bias. METHOD: The study was composed of a one-hour web-based survey and educational module. The survey included an explicit disability bias assessment, disability Implicit Association Tests (IATs), demographic collection, and pre- and post- module clinical vignettes of prenatal patient scenarios. In addition to providing counseling to hypothetical patients, participants also indicated their personal preferences on genetic testing and termination. The educational module focused on the principles of patient-centered counseling. RESULTS: The collected data reflects responses from 335 participants. Within this sample, there were both explicit and implicit biases towards individuals with physical disabilities. Prior to the IAT and educational module, when respondents were tasked with providing genetic testing recommendations, implicit biases and personal preferences for genetic testing and termination influenced respondents' clinical recommendations. Importantly, having previous professional experience with individuals with disabilities diminished biased clinical recommendations prior to the intervention. In response to the IAT and educational intervention, the effect of implicit bias and personal preferences on clinical recommendations decreased. CONCLUSIONS: This study demonstrates how bias against a marginalized group exists within the medical community and that personal opinions can impact clinical counseling. Importantly, our findings suggest that there are strategies that can be easily implemented into curricula to address disability bias, including formal educational interventions and the addition of professional experiences into healthcare professional training programs.

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.

Introduction: Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field. Medical students receive a foundation in genetics during preclinical studies, but variability in clinical experience may limit knowledge of and recruitment into this clinical specialty. In this resource, we describe an approach for simulating exposure to the practice of clinical genetics during the core pediatrics clerkship. Methods: Prior to class, students researched and considered a mock genetics case. In class, each of four small groups discussed two cases demonstrating varied presentations, with facilitation by genetic counseling students. Each case highlighted the variability in presentation, testing, management strategies, and psychosocial issues of a genetics case. Groups reported out to the class, and individuals completed an anonymous evaluation survey. Results: Surveys were distributed to nine of 10 pilot sessions (210 of 235 students) with a response rate of 48%. Students frequently reported no previous exposure to seeing patients with genetics professionals, indicated a preference for learning in case discussion format over traditional lectures, and felt the format helped them apply clinical skills and reasoning. Medical students appreciated the opportunity to interact with genetic counseling students in an interdisciplinary setting and desired further educational opportunities regarding delivering complex information to patients and their families. Discussion: This session expanded exposure to clinical genetics content and professionals, serving as an important foundation for further development of genetic knowledge during clinical training.

From helices to health: undergraduate medical education in genetics and genomics.

Rapid advances in genomic technologies combined with drastic reductions in cost and a growing number of clinical genomic tests are transforming medical practice. While enthusiasm about applications of precision medicine is high, the existing clinical genetics workforce is insufficient to meet present demands and will fall increasingly short as the use of genetic and genomic testing becomes more routine. To address this shortage, physicians in all areas of medicine will require genomic literacy. Undergraduate medical students, therefore, need a solid foundation in genetics and genomics so they can apply genomic medicine across a range of specialties. Here, we review the current trends and challenges in undergraduate medical genetics education in North America, highlight innovations and offer recommendations.

The art and science of selecting graduate students in the biomedical sciences: Performance in doctoral study of the foundational sciences.

The goal of this study was to investigate associations between admissions criteria and performance in Ph.D. programs at Boston University School of Medicine. The initial phase of this project examined student performance in the classroom component of a newly established curriculum named "Foundations in Biomedical Sciences (FiBS)". Quantitative measures including undergraduate grade point average (GPA), graduate record examination (GRE; a standardized, computer-based test) scores for the verbal (assessment of test takers' ability to analyze, evaluate, and synthesize information and concepts provided in writing) and quantitative (assessment of test takers' problem-solving ability) components of the examination, previous research experience, and competitiveness of previous research institution were used in the study. These criteria were compared with competencies in the program defined as students who pass the curriculum as well as students categorized as High Performers. These data indicated that there is a significant positive correlation between FiBS performance and undergraduate GPA, GRE scores, and competitiveness of undergraduate institution. No significant correlations were found between FiBS performance and research background. By taking a data-driven approach to examine admissions and performance, we hope to refine our admissions criteria to facilitate an unbiased approach to recruitment of students in the life sciences and to share our strategy to support similar goals at other institutions.

The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.

Genomic medicine is transforming patient care. However, the speed of development has left a knowledge gap between discovery and effective implementation into clinical practice. Since 2010, the Training Residents in Genomics (TRIG) Working Group has found success in building a rigorous genomics curriculum with implementation tools aimed at pathology residents in postgraduate training years 1-4. Based on the TRIG model, the interprofessional Undergraduate Training in Genomics (UTRIG) Working Group was formed. Under the aegis of the Undergraduate Medical Educators Section of the Association of Pathology Chairs and representation from nine additional professional societies, UTRIG's collaborative goal is building medical student genomic literacy through development of a ready-to-use genomics curriculum. Key elements to the UTRIG curriculum are expert consensus-driven objectives, active learning methods, rigorous assessment and integration.

Medical Genetics Ethics Case Collection: Discussion Materials for Medical Students in the Genomic Era.

INTRODUCTION: This collection of cases in medical genetics focuses on ethical dimensions of genetic testing. Given the recent and continuing revolution in genetic testing technologies, understanding the nuances of genetic tests and the implications of their outcomes for patients is a critical learning goal for medical students. METHODS: This case collection was developed for first-year medical students. The cases fall into two types: discussion cases that lend themselves to both small-group and lecture settings and brief audience-response clicker cases to be used in larger lecture settings. The cases span topics such as direct-to-consumer genetic testing, patient privacy, economic and legal issues of genetic testing, and secondary findings in whole exome/genome sequencing. The clicker cases can be used to punctuate class sessions on the related science, while the discussion cases can be deployed as a single 2-hour session focusing on ethics. The associated materials include teaching notes on the scientific and ethical dimensions of the cases, a slide presentation of the cases, and implementation advice. RESULTS: Students found that engaging with these cases was very stimulating and eye-opening. Student comments indicated that they appreciated the opportunity to grapple with the ethical dimensions of the genetic testing technologies and that the challenges brought to light highlighted the complexity of medical practice in the genomic era. DISCUSSION: Although these cases were originally developed for use with medical students, they could easily be adapted for use in postgraduate and CME settings to explore complex ethical scenarios on which even the experts disagree.

Genetics in LGB Assisted Reproduction: Two Flipped Classroom, Progressive Disclosure Cases.

INTRODUCTION: There have been several educational reforms calling for increasing lesbian, gay, bisexual, and transgender (LGBT) education materials, application of basic sciences to clinical medicine, and active engagement of students. While the amount of educational materials for LGBT clinical cases is increasing, this session for preclinical medical students uniquely combines basic science population genetics, cisgender lesbian, gay, and bisexual (LGB) cultural issues and reproductive endocrinology in a 1.5-hour flipped classroom session. METHODS: Students were assigned a prediscussion video and reading. Facilitators attended a 1.5-hour training session prior to discussion. Each classroom of 30 students with small groups of six was led by a third- or fourth-year medical student facilitator who taught from a PowerPoint that included discussion questions. An audience response system was used to show aggregated, real-time anonymous responses to case questions, a pre- and postsurvey was used to analyze changes in student attitudes and knowledge of assisted reproduction services for same-sex couples, and course evaluations captured overarching student impressions. RESULTS: All first-year students (N = 180) attended this mandatory session. Audience response questions showed a high level of knowledge of population genetics concepts. Voluntary surveys showed a higher number of assisted reproduction recommendations for LGB patients compared to heterosexual patients before discussion, with this difference disappearing after the discussion. This may indicate a shift in student attitudes and knowledge of LGB patient barriers and assisted reproduction. Course evaluations showed appreciation of LGB material integration within the course. DISCUSSION: Educators will be able to successfully integrate the application of population genetics, assisted reproduction cases, and an examination of cultural barriers in health care for LGB patients with this session.

Leading change: curriculum reform in graduate education in the biomedical sciences.

The Division of Graduate Medical Sciences at the Boston University School of Medicine houses numerous dynamic graduate programs. Doctoral students began their studies with laboratory rotations and classroom training in a variety of fundamental disciplines. Importantly, with 15 unique pathways of admission to these doctoral programs, there were also 15 unique curricula. Departments and programs offered courses independently, and students participated in curricula that were overlapping combinations of these courses. This system created curricula that were not coordinated and that had redundant course content as well as content gaps. A partnership of key stakeholders began a curriculum reform process to completely restructure doctoral education at the Boston University School of Medicine. The key pedagogical goals, objectives, and elements designed into the new curriculum through this reform process created a curriculum designed to foster the interdisciplinary thinking that students are ultimately asked to utilize in their research endeavors. We implemented comprehensive student and peer evaluation of the new Foundations in Biomedical Sciences integrated curriculum to assess the new curriculum. Furthermore, we detail how this process served as a gateway toward creating a more fully integrated graduate experience, under the umbrella of the Program in Biomedical Sciences.