Human Genetics Education Research Articles

The sociopolitical in human genetics education.

Education must go beyond only countering essentialist and deterministic views of genetics.

Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan

Backgrounds: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese.MethodsIn September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records. Following patient interviews, we started multistep approach with multidisciplinary team (MA) in January 2020. MA consists of six surgeons, one genetic counselor, one medical geneticist, and six pathologists. MA is set up to compensate for patients’ lack of knowledge about genetic diseases and make case selection for elderly colorectal cancer patients with deficient mismatch repair (dMMR). MA is designed as a system that could be performed by a small number of medical genetic specialists. A total of 522 patients were included during the study duration, 323 and 199 patients in the pre-MA (P-MA) and MA groups, respectively.ResultsThe frequency of dMMR in all patients was 10.0%. The patient interview results indicated a significant lack of patient education regarding genetic diseases. The rates of genetic counseling and genetic testing was significantly higher in MA group than in P-MA group (genetic counseling: MA 34.6% vs. P-MA 7.7%, p = 0.04; genetic testing: MA 30.8% vs. P-MA 3.8%, p = 0.02). Moreover, the diagnosis rate of LS-associated colorectal cancer was significantly higher in MA group (2.5%) than in P-MA group (0.3%) (P = 0.03). In addition, MA could be performed without problems despite the small number of medical and human genetics specialists.ConclusionsMA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.

(284) EXPECTATIONS AND GENETIC KNOWLEDGE WITHIN AUSTRIAN ANDROLOGIST: A NATIONWIDE SURVEY ANALYSIS. TRUTH OR ILLUSION?

Abstract Objectives Recent advances in genetics are shedding light on previously unknown topics in male infertility in the last decade, thus gaining higher importance to these diagnostics. Meanwhile, therapeutic management become often determined by novel genetic/epigenetic findings, therefore, it is essential for practising andrologists to have an adequate knowledge armamentarium. Methods To assess individual genetic knowledge correlated to male infertility and doctors’ expectations we performed an anonymous online survey among Austrian Andrologists and compared these results to one global survey of experts in the field. All Austrian Andrological Working Group members were invited to fill in a short online questionnaire independently. Results The survey was viewed 67 times, 34 experts started it with a completion rate of 85.29% by 5 dropouts after starting. Average time to complete: 3,5 min. Interviewed for the request for genetic investigations in infertile men with NOA/OAT syndrome, only 73.33 % responded with yes, whereas 13.33% no. Overall-Matrix-Scorecard (for maximal 5-score) rating about the importance of genetic investigations in such men is reported in Table 1. Karyogram-analysis will be performed in 32,8%, AZF-microdeletion-mutations-investigations in 31,34% and CFTR-mutation in 22,39% for such men, even less the majority is believing that more sophisticated genetic investigations will help understand male infertility (probably and absolutely yes in 64% and 28%). Regarding their own training in genetics, respondents are believing that they are adequately prepared in 26.67% and not at all in 23.23%; 6,67 % answered somehow, but interestingly 43.33% responded that it could definitively be better. Conclusions The online survey showed exemplary that there is obviously a desire for better knowledge of basic genetic knowledge for adequate therapy of male infertility Furthermore, the current practice is not guideline-oriented. Andrologist specialists appear not comfortable with their own medical education in human genetics. Finally, these national results are in line with the international survey. Conflicts of Interest None

Addressing Racism in Human Genetics and Genomics Education.

This installment of Current Insights summarizes recent research and scholarship in genetics and genomics education in order to stimulate critical discussions of the impact of genetics and genomics education on scientific racism. While it has been uncommon for genetics instruction to address issues of race explicitly, researchers suggest that a more humane, anti-racist approach to genetics and genomics education is needed and have begun to describe what it might look like. The articles in this set draw attention to the ongoing need for instructional design, careful research, and critical scholarship addressing racism in human genetics and genomics education.

Human genetics education as part of the Japanese Cancer Education Comprehensive Support Project.

In Japan, cancer education has been initiated with children as a measure against cancer. Cancer genome medicine, which is a social implementation, includes aspects of genetic medicine. For this reason, it is assumed that content related to "genetics" is also necessary in cancer education. To investigate the actual situation regarding the teaching of genetics in cancer education, we conducted a questionnaire survey of schoolteachers involved in cancer education; these schoolteachers belonged to the model school of the Cancer Education Comprehensive Support Project. Regarding genetic content, we asked questions related to two aspects: "the molecular genetic mechanisms of cancer" and "the phenomenon of sharing cancer in the family." The results showed that about 60% of the teachers had experience teaching content related to the molecular genetic mechanisms of cancer and the phenomenon of sharing cancer in the family. While many teachers felt that teaching genetics in cancer education was necessary, they also felt that there were difficulties in doing so: 65.2% for content related to the molecular genetic mechanisms of cancer and 70.8% for that related to the phenomenon of sharing cancer in the family. It is important to properly treat cancer as a genetic disease, and it is necessary to examine government curriculum guidelines and establish a collaborative system among other subjects. In addition, the involvement of specialists in genetic medicine and psychosocial support is expected to improve teachers' genetic literacy as well as to communicate with students with consideration for their family history.

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages.

Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and Herzegovina, Croatia, Montenegro, North Macedonia, Serbia, and Slovenia). Materials and Methods: The study was conducted from June to September 2021. One representative from each country was invited to collect and interpret the data for all medical faculties in their respective country. All representatives filled a questionnaire, which consisted of two sets of questions. The first set of questions was factual and contained specific questions about medical faculties and design of compulsory courses, whereas the second set of questions was more subjective and inquired the opinion of the representatives about mandatory education in clinical medical genetics in their countries and internationally. In addition, full course syllabi were analysed for course aims, learning outcomes, course content, methods for student evaluation and literature. Results: Detailed analysis was performed for a total of 22 medical faculties in Bosnia and Herzegovina (6), Croatia (4), Montenegro (1), North Macedonia (3), Serbia (6), and Slovenia (2). All but the two medical faculties in Slovenia offer either compulsory courses in basic education in human genetics (16 faculties/courses) or clinical education in medical genetics (3 faculties/courses). On the other hand, only the medical faculty in Montenegro offers both types of education, including one course in basic education in human genetics and one in clinical education in medical genetics. Most of the basic courses in human genetics have similar aims, learning outcomes and content. Conversely, clinical courses in medical genetics are similar concerning study year position, number of contact hours, ECTS (European Credit Transfer and Accumulation System) and contents, but vary considerably regarding aims, learning outcomes, ratio of types of classes, teaching methods and student evaluation. Conclusion: Our results emphasise the need for future collaboration in reaching a consensus on medical genetics education in Balkan countries with Slavic languages. Further research warrants the analysis of performance of basic courses, as well as introducing clinical courses in medical genetics to higher years of study across Balkan countries.

2015 Victor A. McKusick Leadership Award Introduction: Charles Scriver

View Large Image | View Hi-Res Image | Download PowerPoint SlideGood morning.The Victor A. McKusick Leadership Award is presented on behalf of our society to an individual whose professional achievements have fostered and enriched the development of various human genetics disciplines. Recipients exemplify enduring leadership and the vision required for ensuring that human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health.This year’s recipient of the McKusick Leadership Award is Dr. Charles Scriver.Charles is a Canadian through and through! He was born in Montreal, Quebec, Canada. Both of his parents were distinguished academic physicians on the faculty of McGill University. Charles followed their path: he received his B.A. and his M.D. from McGill and did his internship and residency in pediatrics at that same institution.His training at McGill had two important interruptions: he did one year of residency (1957–1958) at Harvard and one year of fellowship (1958–1959) at University College London (UCL). These brief times away from McGill were important for Charles because they launched his career as a biochemical geneticist. At Harvard, he met Mary Efron, with whom he described new inborn errors of amino acid transport and metabolism. At UCL, he worked with C.E. Dent on cystinuria and learned the fundamentals of amino acid transport.Returning to McGill, Charles completed his chief residency in pediatrics and joined the pediatrics faculty. He rapidly rose in the ranks to become the director of the deBelle Laboratory for Biochemical Genetics and the Alva Professor of Human Genetics. His group was incredibly productive and became one of the most prominent in the world. He has published more than 400 papers and many book chapters. He has received numerous honorary degrees and awards, including the ASHG William Allan Award in 1978 and the Excellence in Human Genetics Education Award in 2001. Early in his career, he worked closely with Leon Rosenberg at Yale, another recipient of the McKusick Award. Together, they wrote a seminal book, Amino Acid Metabolism, which educated a generation of biochemical geneticists on this topic.From the “spring board” of biochemical genetics, Charles developed a voracious interest in all aspects of genetics and, in particular, how it informs medicine. His many contributions include delineation of new disorders, refinement and application of newborn and population screening, development and testing of novel treatments of genetic disease, informing public policy, genetic education, and the like.Along the way, he served on the ASHG Board of Directors and as our president in 1987. He also served as president of the Canadian Society of Clinical Investigation, the Society for Pediatric Research, and the Society for the Study of Inherited Metabolic Diseases.He married his wife, Zipper, in 1956, and together they have four children. After spending time with them both, I know that her support has been essential for his success.My own direct interactions with Charles began in the 1970s, when I was looking for a fellowship in biochemical genetics. I visited several programs and went through the usual drill: talks and interviews, typically ending with a statement of interest and promise to be in touch in a few days. By contrast, when I first walked in the door of Charles’s office, he said, “We would love to have you join our group, and let me tell you what we are doing.” His openness, honesty, and gentle directness were not only refreshing but, I learned, also constant features of Charles’ personality and his leadership style.Although I did not accept his offer, to my great good fortune I ended up working with Charles in many ways on many different projects over the years, in particular serving along with Art Beaudet and Bill Sly as editors of The Metabolic and Molecular Bases of Inherited Disease for the last 30 years. The experiences we shared on this joint venture were career highlights for all of us.The McKusick Award recognizes leadership, and we all know that different leaders have different styles. Charles’s style is the quintessential model of leading by example: accessing a problem, seeking advice, making a plan, and participating directly in seeing it through. This model has served him, and consequently us, very well over the years.Finally, Charles is a true scholar and is as comfortable discussing philosophy, history, or literature as he is describing the intricacies of phenylalanine hydroxylase. As a consequence, interactions with him are always wonderful learning experiences.In these many ways, Charles personifies the features of the McKusick Award, and I am thrilled and proud to be able to introduce him to you!

2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn

2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn

2011 Presidential Address: From Classroom to Courtroom to Clinic—Closing the Gaps in Human Genetics Education

In this address, I will talk about some current gaps in human genetics education. I will focus on two quite different areas in which we need to improve the knowledge of our fellow professionals and the general public: the use and interpretation of genetic testing and the understanding and appreciation of the science of evolution. I will conclude with an example in which these and other gaps are being closed through an educational program for the judiciary.

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately. There is a need for a common minimum standard of competence in genetics for health professionals in Europe but because of differences in professional education and regulation between European countries, setting curricula may not be practical. Core competences are used as a basis for health professional education in many fields and settings. An Expert Group working under the auspices of the EuroGentest project and European Society of Human Genetics Education Committee agreed that a pragmatic solution to the need to establish common standards for education and practice in genetic health care was to agree to a set of core competences that could apply across Europe. These were agreed through an exhaustive process of consultation with relevant health professionals and patient groups. Sets of competences for practitioners working in primary, secondary and tertiary care have been agreed and were approved by the European Society of Human Genetics. The competences provide an appropriate framework for genetics education of health professionals across national boundaries, and the suggested learning outcomes are available to guide development of curricula that are appropriate to the national context, educational system and health-care setting of the professional involved. Collaboration between individuals from many European countries and professions has resulted in an adaptable framework for both pre-registration and continuing professional education. This competence framework has the potential to improve the quality of genetic health care for patients globally.

Genetics Education for the Physical Therapy Profession

Background and Purpose. Advances in our understanding of human genetics holds out the promise of significant diagnostic and therapeutic benefits in many fields of medicine, A number of basic questions and issues with respect to genetics and physical therapy practice and education need to he addressed. The purpose of this position paper is to highlight and explore some of those questions and issues, with the objective of advocating for increased education in relevant genetics-related topics and issues for both practicing physical therapists and students enrolled in physical therapist professional (entry-level) education programs. Position and Rationale. The position adopted in this paper is that increased education in relevant genetics-related topics and issues should be a priority for practicing physical therapists and students enrolled in physical therapist professional education programs. The rationale for this position is that in order to practice in the genomics era, health care clinicians should possess certain genetics-related competencies to more effectively manage and care for their patients. Some of the patient-related benefits that will result from an increased level of genetics education and awareness from within the physical therapy profession are the positive shaping of patients' attitudes towards genetic testing and counseling, the provision of accurate genetics information to patients, the generation of appropriate and timely referrals to genetics professionals, and effective advocacy on behalf of patients being discriminated against due to their genetic profiles. Recommendations. The implications of advances in genetics on physical therapist practice and education needs to be considered in a substantive manner. Academicians, clinicians, the American Physical Therapy Association (APTA), and the National Coalition for Health Professional Education in Genetics (NCHPEG) should initiate dialogue to decide on appropriate genetics competencies for the profession. Genetics education should be considered a priority in order for physical therapists to function as effective direct access practitioners and members of the health care team in the genomics era. Key Words: Human Genome Project, Genetics education and physical therapy, Genetics Core Competencies. INTRODUCTION Unprecedented growth in our understanding of human genetics and its role in disease, coupled with recent technological advances such as the advent of powerful gene sequencing and gene mapping techniques, are expected to yield significant diagnostic and therapeutic benefits in many fields of medicine.1-3 Because physical therapists are integral members of the health care team, physical therapist clinicians and educators alike need to consider the impact of genetics on contemporary clinical practice and education, both professional and beyond. In considering the implications of advances in human genetics on physical therapist practice and education, several basic questions need to be addressed. Should physical therapists in clinical practice concern themselves with a patient's genetic information? Are there minimum genetics competencies that clinicians should possess? Should physical therapists be educated in the ethical, legal, and social implications (ELSI) of genomics? In short, should issues relating to clinical genetics remain solely within the domain of the medical geneticist, genetic counselor, and nurse, or do they also need to be considered by physical therapists? The answers to these questions are important because they will ultimately determine the level of genetics education required by members of the physical therapy profession. Leaders in the genetics community have questioned whether primary care physicians are prepared for the incorporation of genetics into mainstream medicine,4 a question that could also be asked of physical therapists. The purpose of this position paper is to highlight and explore some of the questions and issues relating to genetics and physical therapy practice and education, with the objective of advocating for increased education in relevant genetics-related topics and issues for both practicing physical therapists and students enrolled in physical therapist professional education programs. …

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Introductory Speech for Joan Marks

Introductory Speech for Joan Marks

Genetics and molecular diagnostics in the clinical laboratory science curriculum.

To determine the nature and extent of education in human genetics and molecular diagnostics in clinical laboratory science (CLS) programs throughout the U.S. A written survey was mailed to 263 CLS programs. Data were expressed as raw numbers and percentages of responses. State University of New York, Upstate Medical University. There were 162 responses and 151 usable surveys. Most respondents (86.8%) were department chairs/CLS program directors; 13.2% were CLS faculty or educational coordinators. Questions were designed to determine frequency of CLS programs providing education in genetics, specific molecular methods and clinical applications, format of instruction, satisfaction levels with education provided, and perceptions on importance of teaching genetics, molecular diagnostics, and related hands-on experiences. Over 92% of CLS programs teach human genetics and molecular diagnostics in varied formats. Polymerase chain reaction was the most frequently taught molecular method; microorganism detection, the most commonly taught clinical application. More programs teach theory than provide hands-on experience in molecular diagnostics. Only 59 (39.1%) teach related ethical issues. Sixty-seven respondents (44.4%) were dissatisfied with the education they provide, due to lack of time to teach the material (n = 49; 73.1%), lack of knowledgeable faculty (n = 43; 64.2%), and expense of methods (n = 37; 55.2%). Most respondents felt it was important to include human genetics (n = 145; 96%) and molecular diagnostics (n = 149; 98.7%) in their curriculum, and related hands-on experiences in the student laboratory (n = 106; 70.2%) or clinical rotation (n = 135; 89.4%). Over 82% (n = 124) expected instruction of molecular diagnostics to increase in the next five years. Most CLS programs include human genetics and molecular diagnostics in their curriculum, and expect the education they provide to increase in the next 5 years. In order to meet this expectation, CLS programs may need to provide opportunities for faculty training, seek funding to cover the cost of methods, and consider innovative curriculum changes.

Human genetics on the web.

Use of the World Wide Web ("the web") and our knowledge of human genetics are both currently expanding rapidly. By allowing swift, universal, and free access to data, the web has already played an important role in human genetics research. It has also begun to change the way that information is shared in clinical genetics and, to a lesser degree, affect how education in human genetics occurs. There are scores of web sites helpful to those interested in either research or clinical aspects of human genetics. The web and related communication technologies should continue to play increasingly important roles in human genetics.

Introductory Speech for F. Clarke Fraser

Introductory Speech for F. Clarke Fraser

High school genetics education and Alzheimer disease.

Improved and updated human genetics education, including Alzheimer disease (AD) awareness and education, is urgently needed. National, state, and local standards for science education agree that human genetics, biotechnology applications, and the social and ethical issues raised by modern technology need to be taught in high school science using hands-on and inquiry methods of teaching. High school science courses are the last opportunity for most individuals to learn human genetics. There are an increasing number of new and successful human genetics curriculum materials and inservice teacher education programs at the secondary school level aligned with national and state science education standards. These curricula and teacher education programs can be enhanced by collaborative partnerships of geneticists, genetics professionals, biotechnology scientists and technical personnel, and science educators, several of which are in successful operation. Because human genetics involves families and generations, genetics education tied to AD may provide a unique opportunity to educate two generations, both students and parents, to the many medical, personal, family, community, and cultural issues of human genetics and genetic conditions. Implementing human genetics and AD education provides a recipe for accurate, relevant, sustainable and exciting teaching and learning for all involved.

Empowering Teachers to Meet Students & Peers' Educational Needs

Jon R. Hendrix Thomas R. Mertens Jon R. Hendrix is a professor of biology/science education and Thomas R. Mertens is a distinguished professor of biology education/genetics at Ball State University, Muncie, IN 46226, where they co-direct the Human Genetics and Bioethics Education Laboratory. Hendrix has a B.S. in biology education and a M.S. in biology from Indiana State University and an Ed.D. in science education, biology from Ball State. Mertens has a B.S. in biology from Ball State and a M.S. in botany and Ph.D. in genetics from Purdue University. Both men have been active in NABT. Hendrix served as a NABT director-at-large in 1986 and 1987. Mertens received NABT's Distinguished Service Award in 1981, served as president in 1985 and was elected to Honorary Membership in 1988.

Biology Textbooks: Whose Business?

Joseph D. McInerney Joseph D. McInerney is director of the Biological Sciences Curriculum Study, The Colorado College, Colorado Springs, CO 80903. Since joining the BSCS staff in 1977, McInerney has worked primarily on programs in human genetics education and on education and science, technology and society. McInerney is co-chair of the National Association of Biology Teachers/National Science Teachers Association Biology Test Committee.

Attracting and Retaining Qualified High School Science Teachers: Views from Those on the Firing Line

Jon R. Hendrix Thomas R. Mertens Jon R. Hendrix, (left), a professor of biology at Ball State Univ., Muncie IN l 47036, is director of the Human Genetics and Bioethics Education Laboratory there. He earned his B.S. in Biology and Education and his M.S. in Biology from Indiana State Univ. and his Ed.D. in Science Education at Ball State. Hendrix had 11 years of teaching experience in high school, including service as science depart_ ment head, and six years as K-12 science coordinator for the School Corporation of Highland, IN before starting his 14 years in university teaching. An instructor in nine NSF projects, Hendrix has been instrumental in several Pre-College Teacher Development in Science Projects. He is past-president of the Indiana Science Supervisors Assoc. and served four years on the Indiana Science Advisory Board. Hendrix is also a former member of the Boards of Directors of the Hoosier Assoc. of Science Teachers and of the National Science Supervisors Assoc. Thomas R. Mertens, (right), professor of biology/genetics at Ball State, is the current past-president of NABT. Associate director of the Human Genetics and Bioethics Education Laboratory at Ball State, Mertens has taught at the university level for 28 years. He is a fellow of AAAS. In 1984 and 1985, he was codirector of NSF Honors Workshops on Human Genetics and Bioethical Decision Making. A past author of articles in ABT, Mertens also coauthored a book, Human Genetics, published in 1983. He earned his B.S. in Biology from Ball State and his M.S. in Biology and Ph.D. in Genetics from Purdue University.