Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study.

BACKGROUND: Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages. This knowledge is essential for the early detection, prevention, and management of genetic disorders, and for incorporating medical genetics and genomics into patient care. This study aimed to assess the current state of genetics knowledge among medical students and interns across Saudi Arabia and to identify knowledge gaps in genetics. METHOD: A cross-sectional study was conducted between August and September 2023 involving 732 medical students from all regions of Saudi Arabia. The participants completed a validated questionnaire assessing their knowledge of basic genetics, genetic inheritance, genetic testing, and clinical genetics. RESULT: Over 60% of medical students and interns reported that they considered themselves to have only slight knowledge in all areas of genetics. The results revealed a general lack of medical genetic understanding among students and interns, particularly regarding genetic inheritance and testing. For genetic inheritance, slight knowledge was found in 65.2% of pre-clinical, 60.1% of clinical, and 53.2% of interns, with significant differences between groups (p < 0.001). In genetic testing, 75.4% of pre-clinical, 83.9% of clinical, and 90.6% of interns showed slight knowledge, with significant differences across stages (p = 0.021). This study also found that lectures, genetics laboratories, and problem-solving sessions were the preferred resources for learning genetics. CONCLUSION: The current study revealed a notable deficiency in the understanding of medical genetics among medical students and interns in Saudi Arabia, particularly regarding genetic inheritance and testing. This is consistent with previous research highlighting the widespread lack of genetics knowledge among medical students. Integrating more comprehensive genetics education, especially during the clinical years, could improve students' preparedness and confidence in managing genetic disorders. These findings highlight the critical need for curriculum development to equip future physicians with the essential skills for managing genetic disorders.

"Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.

There is a shortage of clinical geneticists, even with concerted recruitment efforts. Previously, no data had been collected about why young career geneticists chose this specialty. To investigate this question, we carried out a survey of current and recent medical genetics and genomics residents. The goal of this survey was to understand their reasons for pursuing medical genetics and genomics as a specialty. Results demonstrate that, for most, interest in genetics begins in medical school and was largely influenced by mentorship. This suggests that placing greater focus on introducing medical genetics as a clinical specialty and fostering robust mentorship of students in preclinical years may increase recruitment into medical genetics residencies.

Investigation on the construction of teaching case base in medical genetics.

Medical genetics is a basic medical course that discusses the diagnosis, prevention and treatment of diseases in relation with genetic factors. This course requires students who have abilities of strong logical thinking, independent thinking, problem analyzing and solving. Single "cramming" teaching is difficult to mobilize students' autonomous learning, and hardly achieves teaching effect of medical genetics. Teaching of case-based discussion breaks passive teaching mode in traditional class. The teacher throws out typically clinical cases. The students prepare materials around relevant problems of cases, and carry out class discussion. Then, key and difficult points of the course are integrated in teaching and learning interaction, which reaches a remarkable effect of teaching. Since 2013, the teaching and research group has carried out teaching of case-based discussion in undergraduates majoring in clinical medicine. In this paper, we screen and sort clinical cases on the basis of course teaching plan and case-based discussion in the teaching of medical genetics. The cases are summarized into 8 chapters in teaching case base, which basically cover the teaching of disease genetics and clinical genetics.The construction of teaching case base in medical genetics has realized the deep integration of clinical cases and teaching. Students can understand and master important and difficult points of teaching in a more intuitive way, which is helpful to stimulate students' innovative thinking, improve students' learning interest and class participation.

Análisis crítico del programa de la asignatura Genética Médica de la disciplina Investigaciones Diagnósticas / A Critical Analysis of the Syllabus for the Subject Medical Genetics of the Discipline Diagnostic Research

Introducción: El programa de estudio es una formulación hipotética de los aprendizajes que se pretenden lograr en el educando. Constituye una herramienta fundamental de trabajo docente. Objetivo: Exponer un análisis crítico del programa de estudio de la asignatura Genética Médica en la carrera de medicina, a partir de lo normado en el reglamento vigente para el trabajo docente-metodológico. Métodos: Se realizó una revisión bibliográfica para desarrollar un análisis crítico del programa de la asignatura genética médica, en la que se consideraron artículos publicados entre 2012 y 2022. La búsqueda fue realizada en Google académico, Dialnet, SciELO y Redalyc en septiembre de 2022. Las palabras clave utilizadas fueron: programas, genética, asignatura, disciplina y proceso docente-educativo. Dentro de este marco se incluyeron todos los artículos cubanos publicados; no hubo restricción en cuanto al idioma. Se consultaron 50 artículos, de estos 11 fueron seleccionados. Se excluyeron aquellos no relacionados con la educación médica superior. Resultados: Se orientó metodológicamente la inclusión de aspectos encaminados a la promoción de salud; fomentar las habilidades comunicativas; reformular los objetivos, incluyendo en su estructura los elementos esenciales; realizar un cambio en el orden de impartir el contenido, con modificaciones, además, en el nivel de profundidad y con aporte de un enfoque preventive; y declarar adecuadamente los valores, la rectificación de la cantidad de horas del fondo de tiempo y la actualización de la bibliografía. Conclusiones: Las insuficiencias encontradas en el análisis efectuado identificaron las áreas vulnerables hacia donde deben dirigirse las principales acciones encaminadas a aumentar la calidad del proceso docente educativo y reflejaron la necesidad de su reevaluación(AU)

Introduction: The syllabus is a hypothetical formulation of the learning aspects intended to be achieved in the student. It is a fundamental tool for teaching. Objective: To present a critical analysis of the syllabus for subject Medical Genetics in the medical major, based on the current regulations for the teaching-methodological work. Methods: A literature review was carried out to develop a critical analysis of the syllabus of the subject Medical Genetics, considering articles published between 2012 and 2022. The search was performed in Google Scholar, Dialnet, SciELO and Redalyc in September 2022. The keywords used were programas [syllabuses], genética [genetics], asignatura [subject], disciplina [discipline] and proceso docente-educativo [teaching-educational process]. This framework included all published Cuban articles; there were not any language-related restrictions. Fifty articles were consulted, 11 of which were selected. Those not related to higher medical education were excluded. Results: The methodological orientation was to include aspects aimed at health promotion, to encourage communicative skills, to reformulate the objectives (including the essential elements in their structure), to make a change in the order of teaching (with modifications also in the level of depth and contributing with a preventive approach), as well as to state the values adequately, to rectify the number of hours within the available time fund, to update the bibliography. Conclusions: The insufficiencies found through the performed analysis permitted to identify the vulnerable areas towards the main actions should be directed if aimed at increasing the quality of the educational teaching process, apart from reflecting their need to be reassessed(AU)

Estrategia para la enseñanza de la Bioestadística en investigaciones científicas de la maestría en genética médica / Estrategia para la enseñanza de la Bioestadística en investigaciones científicas de la maestría en genética médica

Introducción: La bioestadística en las investigaciones científicas constituye el curso ocho de la maestría de genética médica. La experiencia empírica alcanzada demuestra que los cursistas no logran las competencias y habilidades necesarias para adquirir soberanía estadística y enfrentar los desafíos investigativos de la especialidad. Objetivo: Exponer la efectividad de una estrategia didáctica basada en métodos activos para la enseñanza de la Bioestadística en las investigaciones científicas en la maestría de genética médica en la edición del período lectivo 2022-2023. Métodos: Se realizó un estudio cuasiexperimental de estrategia longitudinal de mediciones antes-después. Se aplicó un cuestionario validado por un comité de expertos a 19 maestrandos que consintieron en participar en la investigación. La estrategia docente se basó en la enseñanza por proyectos, y aplicó un paquete estadístico, cuyo programa analítico se contextualizó a los intereses y móviles profesionales. Resultados: El 52,6 por ciento de los maestrandos emplearon los métodos estadísticos; el 57,9 por ciento, las estadísticas descriptivas; y una minoría (21,1 por ciento), la estadística inferencial. El 26,3 por ciento de los casos utilizaron un paquete estadístico y un porcentaje aún más bajo (15,8 por ciento) poseyó autonomía en los análisis estadísticos. Al inicio del curso predominó en la totalidad de los ítems el nivel bajo de conocimientos; y, después de la intervención, el nivel alto y moderado. Conclusiones: Se demostró la efectividad de la estrategia didáctica empleada para la enseñanza de la Bioestadística en las investigaciones científicas en la maestría de genética médica en la edición desarrollada durante el curso 2022-2023(AU)

Introduction: Biostatistics in scientific research is course number eight within the master's degree program in medical genetics. The current empirical experience shows that the students do not achieve the necessary competences and skills to acquire statistical sovereignty or face the research challenges of the specialty. Objective: To expose the effectiveness of a didactic strategy based on active methods for teaching biostatistics in scientific research within the master's degree program in medical genetics during the 2022-2023 academic year. Methods: A quasiexperimental study with a longitudinal strategy of before-after measurements was carried out. A questionnaire validated by an expert committee was applied to nineteen master's degree students who consented to participate in the research. The teaching strategy used a project-based dynamics and applied a statistical package, whose analytical program was contextualized according to professional interests and motivations. Results: 52.6 percent of the students used statistical methods, 57.9 percent used descriptive statistics, and a minority (21.1 percent) used inferential statistics. A statistical package was used in 26.3 percent of the cases and an even lower percentage (15.8 percent ) had some statistical analysis autonomy. At the beginning of the course, the low level of knowledge predominated for all items; after the intervention, the high and moderate levels predominated. Conclusions: This research showed the effectiveness of the didactic strategy used for the teaching of biostatistics in scientific research as part of the master's degree program in medical genetics for the edition developed during the 2022-2023 academic year (AU)

Physician Perception of the Importance of Medical Genetics and Genomics in Medical Education and Clinical Practice.

PURPOSE: The objective of this study was to determine physician perceptions regarding the importance of and comfort with the use of medical genetics and genomics in medical education and practice, as well as physician expectations for medical trainees. METHODS: A retrospective survey was sent to physicians employed by a health system associated with a public medical school to assess their perceived training in medical genetics and genomics and their comfort level with ordering genetic testing. METHODS: Despite reporting formal genetics training in medical schools, clinicians' comfort with and knowledge in this content area does not meet personal expectations of competency. Though physicians report some discomfort with the use of medical genetics and genomics, the majority also believe that its impact on practice will increase in the next five years. Survey recipients were also asked about their expectations for preparation in the same domains for medical students and incoming residents. The surveyed physicians expect a high level of competency for medical students and incoming residents. METHODS: Our study revealed that practicing physicians feel current medical curricula do not produce physicians with the necessary competency in medical genetics and genomics. This is despite physicians' perceived importance of this domain in medical practice. Our findings suggest a need for re-evaluation of medical genetics and genomics education at all levels of training.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

PURPOSE: The field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across a variety of clinical practice areas. As adoption of genomic medicine further evolves, health professionals will be required to stay abreast of new genetic discoveries and technologies and implementation of these advances within their scope of practice will be indicated. METHODS: The Association of Professors of Human and Medical Genetics previously developed medical school genetics core competencies, last updated in 2013. The competencies were reviewed and updated through a structured approach incorporating a modified Delphi method. RESULTS: The updated Association of Professors of Human and Medical Genetics core competencies are presented. Current revisions include competencies that are concise, specific, and assessable. In addition, they incorporate recent advances in clinical practice and promote equity and inclusion in clinical care. CONCLUSION: The 2022 competencies will serve as a guide for medical school leadership and educators involved in curriculum development, implementation, and assessment. Use of these competencies across the undergraduate medical curricula will foster knowledge, skills, and behaviors required in medical practice across a wide range of specialties.

Entorno virtual de aprendizaje de Genética Médica en tiempos de la COVID-19 en la Facultad de medicina Finlay-Albarrán / Environment of Medical Genetics Learning during the Time of COVID-19 at the Finlay-Albarrán Faculty of Medicine

Introducción: el entorno virtual de aprendizaje como modalidad de educación a distancia, se ha convertido en una necesidad para las universidades pues aprovecha los avances de las tecnologías de la informática y las comunicaciones para garantizar un aprendizaje dinámico, en el cual el estudiante es un ente activo. Ante la contingencia epidemiológica de la COVID-19, cobra gran importancia para garantizar la continuidad del proceso docente. Objetivo: relatar la experiencia del entorno virtual de aprendizaje en la asignatura Genética médica, para estudiantes del cuarto semestre de la carrera de Medicina de la Facultad Finlay-Albarrán, durante el período de enfrentamiento a la pandemia de la COVID-19. Material y Métodos: se aplicó un diseño de paradigma cualitativo, del nivel investigativo exploratorio, en el que se realiza un estudio de caso. Resultados: en la primera etapa se utilizó la modalidad del aprendizaje mixto, previa creación del entorno virtual de aprendizaje en la plataforma Moodle. En ella se aplicaron la mayoría de sus herramientas informáticas como el foro de discusión, el chat, el examen tipo test, entre otros. En la segunda etapa, se aplicó la modalidad e-learning y se creó un grupo WhatsApp para darle continuidad al proceso. En la tercera etapa se re-estableció la modalidad presencial, haciendo énfasis en la integración de los conocimientos desde la perspectiva del tema 8. Conclusión: la educación a distancia virtual, garantizó la continuidad del proceso docente de la asignatura Genética médica durante el periodo de emergencia epidemiológica por la COVID-19(AU)

Introduction: the virtual learning environment as a distance education modality has become a necessity for universities, which takes advantage of advances in information technology and communications to guarantee dynamic learning, in which the student is an active entity. Given the epidemiological contingency of the COVID-19 pandemic, it is of great importance to guarantee the continuity of the teaching process. Objective: to report the experience of the virtual learning environment in the subject of Medical Genetics for the fourth semester students of the Medicine career at the Finlay-Albarrán Faculty that was developed during the period of confrontation with the COVID-19 pandemic. Material and Methods: a qualitative paradigm design of the exploratory research level was applied, in which a case study is carried out. Results: in the first stage, the blended learning modality was used, after creating the virtual learning environment on the Moodle platform; most of its computer tools were applied, such as the discussion forum, the chat, multiple choice exam, among others. In the second stage, the e-learning modality was applied and a WhatsApp group was created to give continuity to the process. In the third stage, the face-to-face modality was re-established, emphasizing the integration of knowledge from the perspective of topic 8. Conclusion: virtual distance education guaranteed the continuity of the teaching process of the subject of medical genetics during the period epidemiological emergency of COVID-19(AU)

Victor McKusick and his role in the founding of the European School of Genetic Medicine.

Between 1988 and 2007, during the courses of the European School of Genetic Medicine, many of us had the opportunity to appreciate the tolerant and open-minded personality of Victor McKusick. He was gifted with a unique foresight for the innovations introduced into medicine through the development of the Human Genome Project. The aim of our separate contributions in this article is to document how his insights had an important impact on the European medical training system.

Victor McKusick and his short course.

The Short Course in Human and Mammalian Genetics and Genomics (aka the "Short Course" or the "Bar Harbor course") is one of Victor McKusick's landmark contributions to medical genetics. Conceived in 1959 as a way to increase the contribution of genetic advances to medicine, it has directly affected more than 7000 students and 600 participating faculty from around the world. Now, more than 10 years after his death, it continues to be a vibrant disseminator of genetics, and genomics knowledge for medicine, a catalytic agent for ongoing research and a source of collegiality in our field. What an extraordinary gift!

Procedimiento de autoevaluación de la calidad del pregrado de Genética Médica / A quality self-evaluation procedure for undergraduate of Medical Genetics

RESUMEN Fundamento: Las universidades inciden directamente en el desarrollo socioeconómico de las naciones. Para cumplir este reto, necesitan gestionar su calidad, y así apoyar a la formación de profesionales competentes, que se adapten a los dinámicos entornos laborales. Objetivo: Implementar un procedimiento de autoevaluación de la calidad del proceso docente-educativo, en el pregrado de Genética Médica, para contribuir a la mejora de su desempeño. Metodología: Se realizó una investigación descriptiva, en la asignatura Genética Médica, Facultad de Ciencias Médicas "Salvador Allende", curso 2018-2019. Se utilizaron métodos teóricos, el histórico-lógico y el inductivo-deductivo. Se empleó la observación, la revisión de documentos, las encuestas, las entrevistas y la tormenta de ideas. Se propuso un procedimiento estructurado en las etapas del ciclo de Deming. Resultados: Se diagnosticó el desempeño del proceso, obteniéndose un 63 % de cumplimiento. Se ejecutó un análisis causa-efecto. Se confeccionó un programa de mejora de la calidad. Conclusiones: Se diseñó un procedimiento para autoevaluar la calidad del pregrado de Genética Médica; su aplicación posibilitó la elaboración de un programa, con acciones encaminadas a mitigar las causas de los problemas analizados, y así coadyuvar a la mejora del desempeño del proceso.

ABSTRACT Background: Universities directly influence on the socioeconomic development of nations. To reach this goal, they need to manage their quality, thus support the training of competent professionals, who adapt to dynamic work environments. Objective: To implement a quality self-assessment program of the educational teaching process, in the undergraduate of Medical Genetics, to contribute to their performance´s improvement. Methodology: A descriptive investigation was conducted in the Medical Genetics subject, at the Faculty of Medical Sciences "Salvador Allende", 2018-2019 academic course. Theoretical, logical historical and inductive deductive methods were used. Observation, document review, surveys, interviews, and brainstorming were also used. A structured program was suggested in the stages of the Deming cycle. Results: The process´s performance was diagnosed, obtaining 63 % compliance. A cause-effect analysis was done. A quality improvement program was developed. Conclusions: A quality self-assessment program was designed in the undergraduate degree in Medical Genetics; Its application made possible the development of some actions aimed at mitigating the causes of the considered problems, thus contributing to the improvement of the process´s performance.

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

BACKGROUND: Over the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditions. Congenital anomalies, the most common NCD affecting children, have recently become the fifth leading cause of under-five mortality worldwide, ahead of other conditions such as malaria, neonatal sepsis and malnutrition. Genetic counseling has been shown to be an effective method to decrease the impact of congenital anomalies and genetic conditions but is absent in almost all sub-Saharan Africa countries. To address this need for counseling services we designed and implemented the first broad-based genetic counseling curriculum in Ethiopia, launching it at St. Paul's Millennium Medical College (SPHMMC) in Addis Ababa, Ethiopia. METHODS: The curriculum, created by Michigan Medicine and SPHMMC specialists, consisted of medical knowledge and genetic counseling content and was delivered to two cohorts of nurses. Curriculum evaluation consisted of satisfaction surveys and pre- and post-assessments covering medical knowledge and genetic counseling content. Following Cohort 1 training, the curriculum was modified to increase the medical knowledge material and decrease Western genetic counseling principles material. RESULTS: Both cohorts reported high levels of satisfaction but felt the workshop was too short. No significant improvements in assessment scores were seen for Cohort 1 in terms of total scores and medical knowledge and genetic counseling-specific questions. Following curriculum modification, improvements were seen in Cohort 2 with an increase in total assessment scores from 63% to 73% (p = 0.043), with medical knowledge-specific questions increasing from 57% to 79% (p = 0.01) with no significant change in genetic counseling-specific scores. Multiple logistic, financial, cultural and systems-specific barriers were identified with recommendations for their consideration presented. CONCLUSION: Genetics medical knowledge of Ethiopian nurses increased significantly following curriculum delivery though difficulty was encountered with Western genetic counseling material.

Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor.

John M. Graham, Jr. MD, ScD, pediatrician, Clinical Geneticist and Dysmorphologist, fellow of David Weyhe Smith, one of the founding members of the American College of Medical Genetics, father, grandfather, and perpetually optimistic Dodgers fan, has launched many careers. Through his long and productive career, he has demonstrated and fostered the values of kindness, respect, inclusivity, and resilience. His teaching, mentorship, and collaborative efforts have contributed to the very fabric of the field of Medical Genetics and the congenial zeitgeist of Dysmorphology. In this age of pandemonium, it is perhaps appropriate to reflect on the intentional (and sometimes unintentional) lessons of John M. Graham, Jr MD, ScD, and his contribution as a physician, teacher, mentor, and successful collaborator across traditional barriers.

A Case-Based Active Learning Session for Medical Genetics Resources.

Introduction: As the clinical applications of medical genetics and genomics continue to expand, nongenetics professionals increasingly find themselves in the position of managing patients with genetic conditions. To prepare medical students to handle this future practice demand, it is imperative that they obtain skills and confidence in utilizing credible medical genetics resources to care for patients with genetic conditions. To this end, we developed active learning materials to introduce first-year medical students to these resources. Methods: This approximately 2-hour session targeted first-year medical students (123 students) and combined flipped classroom and small-group collaborative case-based learning models. Students first completed a hands-on preclass exercise, which guided them in navigating the Online Mendelian Inheritance in Man website, and then attended an in-person small-group classroom activity, which provided the opportunity to apply information obtained from credible medical genetics resources to a patient case. At the conclusion of the classroom activity, students voluntarily completed an anonymous survey. Results: Results of student postsession surveys showed that, regardless of previous exposure to medical genetics resources, this session increased both confidence in skills and future intention to use medical genetics resources. Discussion: Since the majority of students were unfamiliar with using specialized medical genetics resources prior to this educational intervention, the session functioned as a practical introduction to these essential resources. We propose that equipping medical students with skills that support inquiry-oriented learning, particularly in the early stage of training, can cultivate the practice of lifelong learning in medical genetics.

Personal genotyping and student outcomes in genetic and pharmacogenetic teaching: a systematic review and meta-analysis.

Aim: Teaching of genetics and pharmacogenetics with personal genotyping (PGT) is becoming commonplace. We aimed to perform a systematic review and meta-analysis to understand the effects of PGT on student outcomes. Methods: A systematic review was performed on studies that reported the effects of PGT on student attitudes, perceptions or knowledge. Extracted data were summarized qualitatively and when possible, quantitatively. Results: Student PGT has a positive effect on student attitude and perceptions survey responses in studies without a control group (p = 0.009) and in studies with a control group (p = 0.025). Knowledge increased after the use of PGT (p < 0.001) in studies without a control group. Conclusion: The findings here suggest that perceptions, attitudes and knowledge increase with PGT in the classroom.

Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

The increasing demand for advanced genomic services has finally come to the attention of healthcare systems and stakeholders who are now eager to find creative solutions to increase the pool of genomic literate providers. Training in genetics and dysmorphology has historically been conducted as a self-driven practice in pattern recognition, ideally within a formal or informal apprenticeship supervised by a master diagnostician. In recent times, case-based learning, framed by flipped classroom pedagogy have become the preferred teaching methods for complex medical topics such as genetics and genomics. To illuminate this perspective, our article was written in honor of the teaching style and pedagogy of Dr John M. Graham Jr and his lifelong commitment to medical education and mentoring.

The impact of needs-based education on the change of knowledge and attitudes towards medical genetics in medical students.

In this research we aimed to (1) develop and validate a new questionnaire examining attitudes and knowledge towards medical genetics, (2) examine the knowledge and attitudes towards medical genetics in students of the Medical Faculty in Rijeka, Croatia and (3) evaluate the impact of education from the mandatory course Medical Genetics on the change of knowledge and attitudes. The study was conducted on 191 fifth- and sixth-year students of the Integrated Undergraduate and Graduate University Study of Medicine in the academic year 2019/2020. Students completed the validated online questionnaire anonymously and voluntarily. Fifth-year students completed the questionnaire twice (beginning/end of the course), while sixth-year students completed the questionnaire once, 3 months after completing the course. The education was carefully designed for medical students according to the CoreCompetences in Genetics for Health Professionals in Europe issued by the European Society of Human Genetics. Using the Kruskal-Wallis test, a statistically significant difference was found between fifth year before and after education and between the fifth year before education and sixth year for (a) total knowledge (P < 0.001), (b) total attitudes (P < 0.001) and (c) personal assessment of knowledge in medical genetics (P < 0.001). Moreover, positive attitudes were associated with higher levels of knowledge. In conclusion, our results emphasise the importance of needs-based education in medical genetics for medical students, which is indispensable for the increase in the level of knowledge and development of positive attitudes in order to provide better health care for patients with genetic disorders.

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.

The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.