Improving medical students’ knowledge of genetic disease: a review of current and emerging pedagogical practices
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paper_title: Genomics Education for Health Care Professionals in the 21st Century

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RECENT GENOMIC DISCOVERIES HAVE BROUGHT ABOUT far-reaching advances in understanding the molecular basis of human health and disease. The vision for the future of genomics research developed by the National Human Genome Research Institute suggests more discoveries are likely to occur over the next few decades. These insights have helped reveal remarkable and unexpected complexities of human biology; however, this scientific reality has slowed the immediate translation of genomic discoveries to health benefits. Nevertheless, the early implementation of genomic medicine has brought clinically important advances that rival any other period of discovery in the history of Western medicine. For example, in 1990 the genetic and molecular basis was understood for fewer than 2% of the estimated 7000 suspected mendelian conditions; in 2011, approximately 40% of mendelian conditions have a known molecular basis. This 20-fold increase in disease-gene discovery has had immediate benefits for myriad affected individuals and families who now have access to accurate diagnostic testing, and the horizon holds hope for novel treatments in many cases. Likewise, advanced genomic technologies are helping to unravel the multifaceted nature of cancer and common complex conditions, such as heart disease and diabetes. More than a thousand newly identified genetic variants have been shown to be associated with such conditions, and many of these variants point to previously unsuspected biological pathways. Although much work remains, these discoveries offer promising avenues for clinical applications informed by genomic discoveries. The appropriate use of such applications will require that clinicians be sufficiently versed in genomics to understand when it should be applied and to communicate the potential limitations and benefits to their patients. Calls for enhanced genomics education for health care professionals predate completion of the Human Genome Project. Despite this, recent evidence suggests that large segments of the physician community are not adequately trained to make appropriate use of genomic advances. This lack of training has not escaped the public’s attention: a national poll of 1000 US adults revealed that 90% lacked confidence in their clinician’s ability to understand and use genomic information. Past efforts to enhance the genomics literacy of health care professionals have often taken the form of a push of information from the genomics community to other professional groups. The underlying assumption of these efforts has been that spontaneous interest in additional genomics education would follow. The push approach has met with reasonable success in the nursing and physician assistant communities. For example, the nursing profession has internally developed genomics education competencies, which have now been broadly adopted across 50 organizations. Linking these competencies with program accreditation and individual certification has been a major driver for the incorporation of genomics into the training and continuing education of the nursing profession. However, the push approach to genomics education has not been particularly successful in physician communities. The reasons for this are complex, but can be distilled into 4 interrelated issues. First, physicians are relentlessly practical. Until recently, most genomic advances were relevant to a very small subset of clinicians; this is changing rapidly. Second, the initial fruits of genomic medicine, such as testing for hereditary cancer syndromes, arrived at a time when the health care ecosystem was under great stress. This virtually guaranteed that any new idea, unless simple and easily adopted, would face passive neglect (if not outright active resistance). Third, the clinical application of genomics does not have a tradition of adherence to the precepts of evidence-based medicine. The first forays of genomics into clinical medicine related to rare genetic diseases, for which it is often impossible to undertake large, prospective, placebocontrolled, blinded trials of diagnostics and therapeutics. Therefore, as new genomic technologies have emerged, the genomics community has often accepted them as beneficial based on little direct clinical evidence. The rapid pace of genomic discovery has compounded the problem, because clinical trials can take years to complete. Often a lack of robust evidence has impeded adoption of genomic ad-
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paper_title: Integrating genetics and genomics into nursing curricula: you can do it too!

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Rapid advances in knowledge and technology related to genomics cross health care disciplines and touch almost every aspect of patient care. The ability to sequence a genome holds the promise that health care can be personalized. Health care professionals are faced with a gap in the ability to use the rapidly expanding technology and knowledge related to genomics in practice. Yet, nurses are key to bridging the gap between genomic discoveries and the human experience of illness. This article presents a case study documenting the experience of five nursing schools/colleges of nursing as they work to integrate genetics and genomics into their curricula.
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paper_title: “Why Do We Have to Learn This Stuff?”—A New Genetics for 21st Century Students

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Several years ago, our biology program decided to develop a new second-year “Fundamentals of Genetics” course to replace the third-year course that was our legacy from David Suzuki and Tony Griffiths. Although our new syllabus radically altered how the core concepts are taught, I now think the changes were much too conservative because we'd ignored how drastically the role of genetics has changed. Below I first describe the problems we originally identified and how we addressed them, and then consider the bigger problem of moving introductory genetics courses into the 21st century.
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paper_title: Integration of Genomics in Primary Care

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Primary care is changing rapidly. The wide-scale expansion of electronic medical records is redefining the way we approach chronic disease management, and automated decision support is increasingly being leveraged to reduce risk and optimize quality. Many of these interventions are now beginning to integrate genomic data. We explore the convergence of these 2 forces (expansion of clinical informatics and integration of translational genomics), and we highlight several applications where these forces are helping our patients avoid potentially preventable events. Because gene-environment interactions are dynamic, the utility of gene-based decision support varies over time. Primary care providers will serve a key role as our patients navigate these changes.
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paper_title: Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education

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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.
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paper_title: Genetic-based prediction of disease traits: prediction is very difficult, especially about the future†

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Translation of results from genetic findings to inform medical practice is a highly anticipated goal of human genetics. The aim of this paper is to review and discuss the role of genetics in medically-relevant prediction. Germline genetics presages disease onset and therefore can contribute prognostic signals that augment laboratory tests and clinical features. As such, the impact of genetic-based predictive models on clinical decisions and therapy choice could be profound. However, given that (i) medical traits result from a complex interplay between genetic and environmental factors, (ii) the underlying genetic architectures for susceptibility to common diseases are not well-understood, and (iii) replicable susceptibility alleles, in combination, account for only a moderate amount of disease heritability, there are substantial challenges to constructing and implementing genetic risk prediction models with high utility. In spite of these challenges, concerted progress has continued in this area with an ongoing accumulation of studies that identify disease predisposing genotypes. Several statistical approaches with the aim of predicting disease have been published. Here we summarize the current state of disease susceptibility mapping and pharmacogenetics efforts for risk prediction, describe methods used to construct and evaluate genetic-based predictive models, and discuss applications.
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paper_title: The need for medical education reform: genomics and the changing nature of health information

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No course in genetics can prepare the practicing physician to interpret whole-genome data. We argue that genetics is a microcosm of the changing dynamics of the practice of medicine. It illustrates the perfect storm of exponential increases in raw data with undetermined clinical relevance, ease of access to large amounts of data via the internet and shifting expectations of the doctor-patient relationship and the very mechanisms of health care delivery. Educational reform is needed across the continuum of medical education, from the student to the faculty training them, and requires a shift in focus from factual knowledge to data management and interpretation.
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paper_title: Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents

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PURPOSE ::: Approximately 50% of medical genetics residency positions remain unfilled each year. This study was designed to assess current recruitment strategies used by program directors, to identify factors that influenced trainees to choose medical genetics as a career, and to use these results as a foundation to develop a strategic plan to address the challenges of recruitment. ::: ::: ::: METHODS ::: Two surveys were created, one for program directors and one for current medical genetics residents, to evaluate current recruiting efforts and institutional support for programs and to identify factors that helped trainees choose genetics as a career. ::: ::: ::: RESULTS ::: Program directors identified the most successful recruiting methods as "direct contact with residents or medical students" and "word of mouth" (80%). Residents listed having a mentor (50%), previous research in genetics (35%), and genetics coursework (33%) as the top reasons that influenced them to enter the field. ::: ::: ::: CONCLUSION ::: Geneticists should become more proactive in providing resources to students to help them understand a career as a medical geneticist and mentor those students/residents who show true interest in the field. Results of these surveys spurred the development of the Task Force on Medical Genetics Education and Training of the American College of Medical Genetics and Genomics.
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paper_title: Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum.

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The pace of discovery in biochemistry and genetics and its effect on clinical medicine places new curricular challenges in medical school education. We sought to evaluate students' understanding of neurogenetics and its clinical applications to design a pilot curriculum into the clinical neurology clerkship. We utilized a needs assessment and a written examination to evaluate the genetics knowledge of 81 third- and fourth-year medical students. The needs assessment surveyed students' self-perceptions of their own understanding of basic and clinically related genetic principles and clinical skills, as well as the most effective educational methods. Medical students reported more competence with basic science learned during the preclinical years than clinical concepts, and they demonstrated relatively low knowledge levels in clinical neurogenetics concepts on the examination, with an average of 29% correct on questions pertaining to genetic counseling compared with 82% correct with regard to inheritance patterns. Common, cross-specialty clinical skills were attained (e.g. internet search, family histories), while at least half of students reported minimal understanding or awareness of key genetics websites (e.g. OMIM) and indications for support group recommendations and genetics referrals. Teaching these more specific genetics skills and concepts needs to be emphasized in the clinical curriculum.
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paper_title: Evaluating the teaching of evidence-based medicine.

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AN INCREASING NUMBER OF MEDICAL SCHOOLS AND residency programs are instituting curricula for teaching the principles and practice of evidencebased medicine (EBM). For example, 95% of US internal medicine residency programs have journal clubs and 37% of US and Canadian internal medicine residencies have time dedicated for EBM. Curricula based on EBM are increasingly popular in residency programs in other specialties, including family medicine, pediatrics, obstetrics/ gynecology, and surgery. Despite the widespread teaching of EBM, however, most of what is known about the outcomes of evidence-based curricula relies on observational data. Although evaluation of the quality of research evidence is a core competency of EBM, the quantity and quality of the evidence for effectively teaching EBM are poor. Ironically, if one were to develop guidelines for how to teach EBM based on these results, they would be based on the lowest level of evidence. There are several reasons why the quality of the evidence for teaching EBM is so weak. Many of these problems are related to the limitations in educational research in general. First, quantitative research methods may be inadequate to capture the complexity of an educational system. Second, students and residents change frequently, making it difficult to retain a consistent sample. Third, the time allotted for a given intervention may be brief in the context of the overall medical curriculum. Fourth, educational institutions may be hesitant to pay students as research participants or to allocate them to unproved educational interventions. Fifth, because most educational interventions are unique to specific institutions, assessment of their effectiveness is usually limited by small sample sizes. Furthermore, even if such interventions could be instituted across multiple institutions, the problems of standardization and cointervention would be particularly challenging. Sixth, perhaps because they are simplest to measure, the most frequently reported outcomes are subjective variables such as satisfaction or self-reported changes in attitudes or knowledge, rather than more important assessments of objectively measured clinical skills or improved patient outcomes. Finally, granting agencies do not give priority to educational investigations, making it difficult to undertake definitive multicenter studies. Educators who have struggled to evaluate educational interventions will find these issues all too familiar. With the increasing prevalence of EBM teaching, however, highquality evidence is more important than ever. Assessment of EBM teaching has also presented some unique problems. For instance, we originally defined evidence-based practice in terms of 4 basic competencies: (1) recognition of a patient problem and construction of a structured clinical question; (2) ability to efficiently and effectively search the medical literature to retrieve the best available evidence to answer the clinical question; (3) critical appraisal of the evidence; and (4) integration of the evidence with all aspects of individual patient decision making to determine the best clinical care for the patient. Although these 4 skills were the most commonly reported curricular objectives in 99 internal medicine residencies that teach EBM, almost all the research on EBM education has focused exclusively on the third item: teaching critical appraisal skills. Examining this literature may yield useful insights into the difficulties of EBM educational research. Since critical appraisal skills involve the ability to differentiate strong from weak research methods, one might expect that this research would be of relatively high quality. In fact, most of these studies are methodologically weak. Using broad criteria to identify any reports of a graduate (residency) EBM curricula, Green identified 18 reports published between 1980 and 1997. Of these, 72% used a traditional journal club format to teach critical appraisal skills. Only 7 of the 18 studies evaluated the effectiveness of their intervention. Five of these 7 studies compared intervention with control (only 1 with randomized design); only 2 of 7 studies used any blinding. Of these 5 controlled studies, 2 used a validated outcome measure to evaluate critical appraisal skills. Measurement of behavioral change relied on self-report in all 5 studies, and none examined patient outcomes. Most reports did not evaluate their intervention
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paper_title: A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

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Although countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By mining the medical records of over 110 million patients, we examine the extent to which Mendelian variation contributes to complex disease risk. We detect thousands of associations between Mendelian and complex diseases, revealing a nondegenerate, phenotypic code that links each complex disorder to a unique collection of Mendelian loci. Using genome-wide association results, we demonstrate that common variants associated with complex diseases are enriched in the genes indicated by this "Mendelian code." Finally, we detect hundreds of comorbidity associations among Mendelian disorders, and we use probabilistic genetic modeling to demonstrate that Mendelian variants likely contribute nonadditively to the risk for a subset of complex diseases. Overall, this study illustrates a complementary approach for mapping complex disease loci and provides unique predictions concerning the etiologies of specific diseases.
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paper_title: Academic Family Physicians' Perception of Genetic Testing and Integration Into Practice:

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METHODS: This study is an analysis of a survey conducted as part of the Council of Academic Family Medicine Educational Research Alliance (CERA). Academic family physicians in the United States and Canada were queried about their perception of genetic testing’s utility, how frequently patients ask about genetic testing, and the importance of genetic testing in future practice and education of students and residents. RESULTS: The overall survey had a response rate of 45.1% (1,404/3,112). A majority (54.4%) of respondents felt that they were not knowledgeable about available genetic tests. Respondents perceived greater utility of genetic tests for breast cancer (94.9%) and hemochromatosis (74.9%) than for Alzheimer’s disease (30.3%), heart disease (25.4%), or diabetes (25.2%). Individuals with greater self-perceived knowledge of genetic tests were more likely to feel that genetic testing would have a signifi cant impact on their future practice (23.1%) than those with less knowledge (13.4%). Respondents had little exposure to direct-toconsumer genetic tests, but a majority felt that they were more likely to cause harm than benefit. CONCLUSIONS: Academic family physicians acknowledge their lack of knowledge about genetic tests. Educational initiatives may be useful in helping them incorporate genetic testing into practice and in teaching these skills to medical students and residents.
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paper_title: Integration of Genomics in Primary Care

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Primary care is changing rapidly. The wide-scale expansion of electronic medical records is redefining the way we approach chronic disease management, and automated decision support is increasingly being leveraged to reduce risk and optimize quality. Many of these interventions are now beginning to integrate genomic data. We explore the convergence of these 2 forces (expansion of clinical informatics and integration of translational genomics), and we highlight several applications where these forces are helping our patients avoid potentially preventable events. Because gene-environment interactions are dynamic, the utility of gene-based decision support varies over time. Primary care providers will serve a key role as our patients navigate these changes.
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paper_title: General Competencies And Accreditation In Graduate Medical Education

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Many have recommended changing the professional development of physicians. Concluding that further educational process specification was inadequate, the Accreditation Council for Graduate Medical Education (ACGME) decided to specify six general competencies of graduate medical education (GME): patient care; medical knowledge; practice-based learning and improvement; professionalism; interpersonal skills and communication; and systems-based practice. Coupling them with a developmental view of professional knowledge and skill acquisition, the ACGME invited further specification and development of desired learning from the extended medical specialty community, including the specialty boards. This collaborative process offers a model of the role accrediting agencies can play in fostering workforce developmental change.
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paper_title: Competency-based medical education: theory to practice

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Although competency-based medical education (CBME) has attracted renewed interest in recent years among educators and policy-makers in the health care professions, there is little agreement on many aspects of this paradigm. We convened a unique partnership – the International CBME Collaborators – to examine conceptual issues and current debates in CBME. We engaged in a multi-stage group process and held a consensus conference with the aim of reviewing the scholarly literature of competency-based medical education, identifying controversies in need of clarification, proposing definitions and concepts that could be useful to educators across many jurisdictions, and exploring future directions for this approach to preparing health professionals. In this paper, we describe the evolution of CBME from the outcomes movement in the 20th century to a renewed approach that, focused on accountability and curricular outcomes and organized around competencies, promotes greater learner-centredness and de-emphasizes time-based curricular design. In this paradigm, competence and related terms are redefined to emphasize their multi-dimensional, dynamic, developmental, and contextual nature. CBME therefore has significant implications for the planning of medical curricula and will have an important impact in reshaping the enterprise of medical education. We elaborate on this emerging CBME approach and its related concepts, and invite medical educators everywhere to enter into further dialogue about the promise and the potential perils of competency-based medical curricula for the 21st century.
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paper_title: Defining characteristics of educational competencies

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Context Doctor competencies have become an increasing focus of medical education at all levels. However, confusion exists regarding what constitutes a competency versus a goal, objective or outcome. ::: ::: Objectives This article attempts to identify the characteristics that define a competency and proposes criteria that can be applied to distinguish between competencies, goals, objectives and outcomes. ::: ::: Methods We provide a brief overview of the history of competencies and compare competencies identified by international medical education organisations (CanMEDS 2005, Institute for International Medical Education, Dundee Outcome Model, Accreditation Council for Graduate Medical Education/American Board of Medical Specialties). Based upon this review and comparisons, as well as on definitions of competencies from the literature and theoretical and conceptual analyses of the underpinnings of competencies, the authors develop criteria that can serve to distinguish competencies from goals, objectives and outcomes. ::: ::: Results We propose 5 criteria which can be used to define a competency: it focuses on the performance of the end-product or goal-state of instruction; it reflects expectations that are external to the immediate instructional programme; it is expressible in terms of measurable behaviour; it uses a standard for judging competence that is not dependent upon the performance of other learners, and it informs learners, as well as other stakeholders, about what is expected of them. ::: ::: Conclusions Competency-based medical education is likely to be here for the foreseeable future. Whether or not these 5 criteria, or some variation of them, become the ultimate defining criteria for what constitutes a competency, they represent an essential step towards clearing the confusion that reigns.
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paper_title: Integrating clinical medicine into biomedical graduate education to promote translational research: strategies from two new PhD programs.

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For several decades, a barrier has existed between research and clinical medicine, making it difficult for aspiring scientists to gain exposure to human pathophysiology and access to clinical/translational research mentors during their graduate training. In 2005, the Howard Hughes Medical Institute announced the Med Into Grad initiative to support graduate programs that integrate clinical knowledge into PhD biomedical training, with the goal of preparing a new cadre of translational researchers to work at the interface of the basic sciences and clinical medicine. Two institutions, Baylor College of Medicine and the Cleveland Clinic/Case Western Reserve University, developed new PhD programs in translational biology and/or molecular medicine. These programs teach the topics and skills that today's translational researchers must learn and expose students to clinical medicine. In this article, the authors compare and contrast the history, implementation, and evaluation of the Translational Biology and Molecular Medicine program at Baylor College of Medicine and the Molecular Medicine program at the Cleveland Clinic/Case Western Reserve University. The authors also demonstrate the feasibility of creating a multidisciplinary graduate program in molecular medicine that integrates pathophysiology and clinical medicine without extending training time. They conclude with a discussion of the similarities in training approaches that exist despite the fact that each program was independently developed and offer observations that emerged during their collaboration that may benefit others who are considering developing similar programs.
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paper_title: The role of medical libraries in undergraduate education: a case study in genetics

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Between 1996 and 2001, the Health Science Center Libraries and Department of Zoology at the University of Florida partnered to provide a cohesive and comprehensive learning experience to undergraduate students in PCB3063, “Genetics.” During one semester each year, a librarian worked with up to 120 undergraduates, providing bibliographic and database instruction in the tools that practicing geneticists use (MEDLINE, GenBank, BLAST, etc.). Students learned to evaluate and synthesize the information that they retrieved, coupling it with information provided in classroom lectures, thus resulting in well-researched short papers on an assigned genetics topic. Exit surveys of students indicated that the majority found the library sessions and librarian's instruction to be useful. Responses also indicated that the project facilitated increased understanding of genetics concepts and appreciation for the scientific research process and the relevance of genetics to the real world. The library benefited from this partnership on a variety of fronts, including the development of skilled library users, pretrained future clientele, and increased visibility among campus research laboratories. The course and associated information instruction and assigned projects can be considered models for course-integrated instruction and the role of medical libraries in undergraduate education.
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paper_title: Teaching evidence-based medicine literature searching skills to medical students during the clinical years: a randomized controlled trial

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Objectives: ::: Constructing an answerable question and effectively searching the medical literature are key steps in practicing evidence-based medicine (EBM). This study aimed to identify the effectiveness of delivering a single workshop in EBM literature searching skills to medical students entering their first clinical years of study.
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paper_title: Redesigning a library-based genetics class research project through instructional theory and authentic experience.

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Question: ::: How can the library-based research project of a genetics course be reinvigorated and made sustainable without sacrificing educational integrity?
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paper_title: A Laboratory for Education in Molecular Medicine: a Dedicated Resource for Medical Student Research

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The Paul L. Foster School of Medicine in El Paso, Texas seated its inaugural class in 2009 and introduced a highly-integrated pre-clinical curriculum that provides our students with a solid introduction to the scientific principles of medicine, medical skills, early clinical experiences, ethics and professionalism. To further enhance their undergraduate training, all students additionally complete a scholarly concentration requirement called the Scholarly Activity and Research Program (SARP). Students can choose a wide variety of topics for this faculty-mentored activity; however, about two-thirds of the students choose projects relating to basic, clinical or translational research. To broaden the on-campus opportunities for students in these areas we have developed a research laboratory, called the Laboratory for Education in Molecular Medicine (LEMM), that is fully-dedicated for mentored SARP projects. This ‘community’ laboratory is housed in the Department of Medical Education and represents a unique model for the establishment and development of viable research projects. We discuss the evolution of the LEMM, its current organization and the challenges and opportunities in maintaining and growing this valuable resource.
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paper_title: Active learning increases student performance in science, engineering, and mathematics

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creased by 0.47 SDs under active learning (n = 158 studies), and that the odds ratio for failing was 1.95 under traditional lecturing (n = 67 studies). These results indicate that average examination scores improved by about 6% in active learning sections, and that students in classes with traditional lecturing were 1.5 times more likely to fail than were students in classes with active learning. Heterogeneity analyses indicated that both results hold across the STEM disciplines, that active learning increases scores on concept inventories more than on course examinations, and that active learning appears effective across all class sizes—although the greatest effects are in small (n ≤ 50) classes. Trim and fill analyses and fail-safe n calculations suggest that the results are not due to publication bias. The results also appear robust to variation in the methodological rigor of the included studies, based on the quality of controls over student quality and instructor identity. This is the largest and most comprehensive metaanalysis of undergraduate STEM education published to date. The results raise questions about the continued use of traditional lecturing as a control in research studies, and support active learning as the preferred, empirically validated teaching practice in regular classrooms.
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paper_title: Limitations in experimental design mean that the jury is still out on lecturing

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Freeman et al. (1) make a valuable contribution to the field of science, technology, engineering, and mathematics (STEM) education in their meta-analysis. However, instead of ceasing to include lecturing as an experimental condition because of its proven inadequacy, I argue that lecturing as it is currently conceptualized be discontinued because it is done so in a methodologically problematic manner. The problem is that the term “lecturing” is often operationalized imprecisely, which raises questions about the reliability of much of the literature.
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paper_title: A Course-Based Research Experience: How Benefits Change with Increased Investment in Instructional Time

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There is widespread agreement that science, technology, engineering, and mathematics programs should provide undergraduates with research experience. Practical issues and limited resources, however, make this a challenge. We have developed a bioinformatics project that provides a course-based research experience for students at a diverse group of schools and offers the opportunity to tailor this experience to local curriculum and institution-specific student needs. We assessed both attitude and knowledge gains, looking for insights into how students respond given this wide range of curricular and institutional variables. While different approaches all appear to result in learning gains, we find that a significant investment of course time is required to enable students to show gains commensurate to a summer research experience. An alumni survey revealed that time spent on a research project is also a significant factor in the value former students assign to the experience one or more years later. We conclude: 1) implementation of a bioinformatics project within the biology curriculum provides a mechanism for successfully engaging large numbers of students in undergraduate research; 2) benefits to students are achievable at a wide variety of academic institutions; and 3) successful implementation of course-based research experiences requires significant investment of instructional time for students to gain full benefit.
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paper_title: Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents

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PURPOSE ::: Approximately 50% of medical genetics residency positions remain unfilled each year. This study was designed to assess current recruitment strategies used by program directors, to identify factors that influenced trainees to choose medical genetics as a career, and to use these results as a foundation to develop a strategic plan to address the challenges of recruitment. ::: ::: ::: METHODS ::: Two surveys were created, one for program directors and one for current medical genetics residents, to evaluate current recruiting efforts and institutional support for programs and to identify factors that helped trainees choose genetics as a career. ::: ::: ::: RESULTS ::: Program directors identified the most successful recruiting methods as "direct contact with residents or medical students" and "word of mouth" (80%). Residents listed having a mentor (50%), previous research in genetics (35%), and genetics coursework (33%) as the top reasons that influenced them to enter the field. ::: ::: ::: CONCLUSION ::: Geneticists should become more proactive in providing resources to students to help them understand a career as a medical geneticist and mentor those students/residents who show true interest in the field. Results of these surveys spurred the development of the Task Force on Medical Genetics Education and Training of the American College of Medical Genetics and Genomics.
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paper_title: Differential Acceptance of Genomic Medicine Approaches Between Future and Practicing Physicians

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To introduce medical students at Boston University School of Medicine to the complexities of genomic testing approaches, students were presented information on the scientific and ethical foundations of genomic medicine and were then asked to apply these principles to a controversial case. Medical student and New England Journal of Medicine (NEJM) reader responses to a hypothetical case of an adult seeking genomic testing to explore his personal cancer risk were compared. The responses revealed that future physicians are significantly more inclined than NEJM readers to embrace genomic approaches in response to a case of an asymptomatic patient seeking genomic testing.
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paper_title: Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum

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Over the past several years, the field of medical genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in genetic technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with genetic principles, and the availability of genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical genetics class and demonstrate the usefulness of genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting.
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paper_title: Teaching About Genetic Testing Issues in the Undergraduate Classroom: A Case Study

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Educating undergraduates about current genetic testing and genomics can involve novel and creative teaching practices. The higher education literature describes numerous pedagogical approaches in the laboratory designed to engage science and liberal arts students. Often these experiences involve students analyzing their own genes for various polymorphisms, some of which are associated with disease states such as an increased risk for developing cancer. While the literature acknowledges possible ethical ramifications of such laboratory exercises, authors do not present recommendations or rubrics for evaluating whether or not the testing is, in fact, ethical. In response, we developed a laboratory investigation and discussion which allowed undergraduate science students to explore current DNA manipulation techniques to isolate their p53 gene, followed by a dialogue probing the ethical implications of examining their sample for various polymorphisms. Students never conducted genotyping on their samples because of ethical concerns, so the discussion served to replace actual genetic testing in the class. A basic scientist led the laboratory portion of the assignment. A genetic counselor facilitated the discussion, which centered around existing ethical guidelines for clinical genetic testing and possible challenges of human genotyping outside the medical setting. In their final papers, students demonstrated an understanding of the practice guidelines established by the genetics community and acknowledged the ethical considerations inherent in p53 genotyping. Given the burgeoning market for personalized medicine, teaching undergraduates about the psychosocial and ethical dimensions of human gene testing seems important and timely, and introduces an additional role genetic counselors can play in educating consumers about genomics.
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paper_title: A problem-based learning approach to teaching medical genetics.

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Abstract ::: A newly developed problem-based medical genetics course that was integrated into the fourth-year medical school curriculum of the University of Texas Health Science Center at San Antonio is described. To provide a basic genetic background for the clinical rotations, a supplemental computer tutorial is required during the second year. These two formats prepare the medical students to recognize genetic diseases, to provide basic genetic counseling in their daily practice, and to appropriately refer patients to genetic specialists.
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paper_title: From Bedside to Blackboard: the benefits of teaching molecular biology within a medical context

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Courses in molecular biology are part of practically every degree program in medicine and the life sciences. Historically, many basic discoveries in this field have resulted from investigations by doctors into the nature of diseases.This essay suggests that medical educators deliberately incorporate such material, whether histor- ical or contemporaneous, into their molecular and cell biology courses.An example of such usage, an early report of the detection of bacteriophage activity on pathogenic bacteria, is discussed in detail. Such an approach can potentially narrow the perceived gap between "basic" and "applied" science.As medicine is so intimately and obviously linked with human welfare, this also provides an avenue for educators to discuss issues of scientific integrity and ethics within a "pure science" course.
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paper_title: Variation in cancer risk among tissues can be explained by the number of stem cell divisions

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Some tissue types give rise to human cancers millions of times more often than other tissue types. Although this has been recognized for more than a century, it has never been explained. Here, we show that the lifetime risk of cancers of many different types is strongly correlated (0.81) with the total number of divisions of the normal self-renewing cells maintaining that tissue's homeostasis. These results suggest that only a third of the variation in cancer risk among tissues is attributable to environmental factors or inherited predispositions. The majority is due to "bad luck," that is, random mutations arising during DNA replication in normal, noncancerous stem cells. This is important not only for understanding the disease but also for designing strategies to limit the mortality it causes.
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paper_title: The virtual diagnostic laboratory: A new way of teaching undergraduate medical students about genetic testing

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PURPOSE ::: Medical students often perceive genetics as a discipline focused on rare diseases with relevance only to genetics specialists. Because genetic testing has now infiltrated most if not all medical disciplines, we need new teaching approaches to help trainees incorporate emerging genetic testing strategies appropriately into medical practice. With the ever-increasing number of known disease-associated genes, it is also important to shift from a paradigm of memorization to one of critical evaluation and an awareness of available resources. ::: ::: ::: METHODS ::: We designed case-based virtual laboratory sessions for first-year medical students at Emory University. These sessions emphasize both rare and common health issues and allow the students to practice applying their fundamental genetics knowledge in the diagnostic setting. ::: ::: ::: RESULTS ::: These sessions proved a valuable approach to presenting the intricacies of diagnostic genetic testing. Students rate the sessions very highly, with 92% of them agreeing or strongly agreeing that the sessions had educational value. The students commented that ours was an effective approach to teaching the material that illustrates well the impact of genetics on patient care. ::: ::: ::: CONCLUSIONS ::: The virtual diagnostic laboratory approach is an effective, nonlecture-based method of teaching medical students about genetic testing strategies and their application in the clinical setting.
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paper_title: Cystic fibrosis genetics: from molecular understanding to clinical application

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The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
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paper_title: Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum

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Over the past several years, the field of medical genetics has continued to expand and is now impacting a broad range of medical care, mainly due to rapid advances in genetic technology and information generated by the Human Genome Project. Physicians from multiple disciplines will need to become familiar with genetic principles, and the availability of genetic databases on the internet is a valuable resource for medical students and physicians. To integrate these tools into medical student training, the University of Chicago Pritzker School of Medicine set out to develop multiple, interactive, case-based, educational sessions in the pre-clinical and clinical curriculum, designed to reinforce basic principles taught in the pre-clinical genetics class and demonstrate the usefulness of genetic information accessible via the internet in the clinical setting. Two interactive sessions and a self-assessment exercise were developed. The sessions took place in a computer classroom where each student had access to the internet and could work independently. The sessions used case-based scenarios to help students become familiar with internet based resources and demonstrate how genetic information can affect medical care. The sessions were well received by the student participants with 99% agreeing that the material was useful and important to clinical medicine. In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting.
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paper_title: Application of genomic principles to pharmacotherapy of cancer.

paper_content:

Objectives. To teach first-year (P1) pharmacy students to apply the principles of pharmacogenomics underlying clinical pharmacotherapeutics to cancer patients. ::: ::: Design. Using polymerase chain reaction (PCR) and high-resolution melting analysis of deoxyribonucleic acid (DNA) from colorectal cancer cell lines to determine the presence of somatic mutations for an oncogenic marker, students formulated the proper course of treatment for a patient with similar tumor genomics. ::: ::: Assessment. In a postintervention survey, students highly rated the effectiveness of the laboratory session for learning pharmacogenomics, and subsequent examination scores reflected retention of principles and understanding of clinical application. ::: ::: Conclusion. The pharmacogenomic laboratory exercise prepared students to understand how genetic markers give clinical insight into the appropriate application of drugs in oncology pharmacotherapy. Further, the session inspired their interest in learning more about pharmacogenomics and their professional roles in personalized medicine.
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paper_title: Cancer education in physician assistant programs.

paper_content:

Methods: This is a descriptive, cross-sectional study of PA programs using a web-based survey. Results: The response rate was 22%. All programs reported dedicated curricular hours to address cancer: genetics, prevention/screening, diagnosis, and general treatment and counseling regarding delivering “bad news.” The majority of programs provided 2 hours or less of content related to the evaluation and management of acute cancer treatment effects, oncologic emergencies, and symptoms of cancers/palliative care. Most common content areas without any dedicated time were management of patients with long-term sequelae of prior treatment or undergoing cancer surveillance and identification/ management of cancer survivors. The most commonly used instructional format is lecture, interaction with preceptors, and direct patient care. Other forms of learning such as case-based learning and team-based learning are less commonly used. Most programs report the most common cancer patient encounters occur during internal medicine/primary care rotations. Although typically available, few students participate in oncology elective rotations. Data regarding faculty perception of cancer education, teaching resources, and barriers to teaching were also collected. Conclusion: Cancer prevention and initial diagnosis are the primary foci of instruction by PA schools. Instruction is typically by classroom lecture and clinical encounters during primary care rotations. Given the challenges faced by PA programs to provide a generalist’s education for students, novel means of enhancing cancer education during PA school and continuing medical education following primary PA education will be essential to expand PAs’ competencies in cancer care.
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paper_title: Inheritance of most X-linked traits is not dominant or recessive, just X-linked.

paper_content:

The existence of X-linked disorders in humans has been recognized for many centuries, based on lessons in religious texts and observations of specific human families (e.g., color blindness or Daltonism). Our modern concepts of Mendelian (including X-linked) inheritance originated just after the turn of the last century. Early concepts of dominance and recessiveness were first used in conjunction with autosomal traits, and then applied to "sex"-linked traits to distinguish X-linked recessive and X-linked dominant inheritance. The former was defined as vertical transmission in which carrier women pass the disorder to affected sons, while the latter was defined as vertical transmission in which daughters of affected males are always affected, transmitting the disorder to offspring of both sexes. However, many X-linked disorders such as adrenoleukodystrophy, fragile X syndrome, and ornithine transcarbamylase deficiency do not fit these rules. We reviewed the literature on 32 X-linked disorders and recorded information on penetrance and expressivity in both sexes. As expected, penetrance and an index of severity of the phenotype (defined in our Methods) were both high in males, while the severity index was low in females. Contrary to standard presentations of X-linked inheritance, penetrance was highly variable in females. Our analysis classified penetrance as high in 28% of the disorders studied, intermediate in 31%, and low in 40%. The high proportion of X-linked disorders with intermediate penetrance is difficult to reconcile with standard definitions of X-linked recessive and dominant inheritance. They do not capture the extraordinarily variable expressivity of X-linked disorders or take into account the multiple mechanisms that can result in disease expression in females, which include cell autonomous expression, skewed X-inactivation, clonal expansion, and somatic mosaicism. We recommend that use of the terms X-linked recessive and dominant be discontinued, and that all such disorders be simply described as following "X-linked" inheritance.
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paper_title: Application of the Introductory Molecular and Cellular Biology Assessment to Health Professional Students

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Educators have predominantly used concept inventories to monitor undergraduate students’ learning, but there is opportunity for the application of these inventories to health professional students. We administered the Introductory Molecular and Cellular Biology Assessment (IMCA) to incoming medical and pharmacy students to test their understanding of important biology competencies. Health professional students held naive preconceptions on topics related to thermodynamics and chromosome dynamics during cell division. There was no relationship between performance on the assessment and number of math and science courses completed prior to enrolling in professional school. The students’ score on the IMCA correlated positively with scores from either the MCAT or the PCAT. In addition, female students with comparable undergraduate GPAs to the male students tended to perform less well on the concept inventory. There was a positive relationship between performance on the IMCA and performance in first semester professional school courses. Health professional educators should consider using concept inventories to help tailor and assess instruction of health professional students.
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paper_title: Cardiovascular pharmacogenomics: current status and future directions

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Drugs are widely used and highly effective in the treatment of heart disease. Nevertheless, in some instances, even drugs effective in a population display lack of efficacy or adverse drug reactions in individual patients, often in an apparently unpredictable fashion. This review summarizes the genomic factors now known to influence variability in responses to widely used cardiovascular drugs such as clopidogrel, warfarin, heparin and statins. Genomic approaches being used to discover new pathways in common cardiovascular diseases and thus potential new targets for drug development are described. Finally, the way in which this new information is likely to be used in an electronic medical record environment is discussed.
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paper_title: Genomics Education for Health Care Professionals in the 21st Century

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RECENT GENOMIC DISCOVERIES HAVE BROUGHT ABOUT far-reaching advances in understanding the molecular basis of human health and disease. The vision for the future of genomics research developed by the National Human Genome Research Institute suggests more discoveries are likely to occur over the next few decades. These insights have helped reveal remarkable and unexpected complexities of human biology; however, this scientific reality has slowed the immediate translation of genomic discoveries to health benefits. Nevertheless, the early implementation of genomic medicine has brought clinically important advances that rival any other period of discovery in the history of Western medicine. For example, in 1990 the genetic and molecular basis was understood for fewer than 2% of the estimated 7000 suspected mendelian conditions; in 2011, approximately 40% of mendelian conditions have a known molecular basis. This 20-fold increase in disease-gene discovery has had immediate benefits for myriad affected individuals and families who now have access to accurate diagnostic testing, and the horizon holds hope for novel treatments in many cases. Likewise, advanced genomic technologies are helping to unravel the multifaceted nature of cancer and common complex conditions, such as heart disease and diabetes. More than a thousand newly identified genetic variants have been shown to be associated with such conditions, and many of these variants point to previously unsuspected biological pathways. Although much work remains, these discoveries offer promising avenues for clinical applications informed by genomic discoveries. The appropriate use of such applications will require that clinicians be sufficiently versed in genomics to understand when it should be applied and to communicate the potential limitations and benefits to their patients. Calls for enhanced genomics education for health care professionals predate completion of the Human Genome Project. Despite this, recent evidence suggests that large segments of the physician community are not adequately trained to make appropriate use of genomic advances. This lack of training has not escaped the public’s attention: a national poll of 1000 US adults revealed that 90% lacked confidence in their clinician’s ability to understand and use genomic information. Past efforts to enhance the genomics literacy of health care professionals have often taken the form of a push of information from the genomics community to other professional groups. The underlying assumption of these efforts has been that spontaneous interest in additional genomics education would follow. The push approach has met with reasonable success in the nursing and physician assistant communities. For example, the nursing profession has internally developed genomics education competencies, which have now been broadly adopted across 50 organizations. Linking these competencies with program accreditation and individual certification has been a major driver for the incorporation of genomics into the training and continuing education of the nursing profession. However, the push approach to genomics education has not been particularly successful in physician communities. The reasons for this are complex, but can be distilled into 4 interrelated issues. First, physicians are relentlessly practical. Until recently, most genomic advances were relevant to a very small subset of clinicians; this is changing rapidly. Second, the initial fruits of genomic medicine, such as testing for hereditary cancer syndromes, arrived at a time when the health care ecosystem was under great stress. This virtually guaranteed that any new idea, unless simple and easily adopted, would face passive neglect (if not outright active resistance). Third, the clinical application of genomics does not have a tradition of adherence to the precepts of evidence-based medicine. The first forays of genomics into clinical medicine related to rare genetic diseases, for which it is often impossible to undertake large, prospective, placebocontrolled, blinded trials of diagnostics and therapeutics. Therefore, as new genomic technologies have emerged, the genomics community has often accepted them as beneficial based on little direct clinical evidence. The rapid pace of genomic discovery has compounded the problem, because clinical trials can take years to complete. Often a lack of robust evidence has impeded adoption of genomic ad-
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paper_title: Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles

paper_content:

PURPOSE ::: With the relentless expansion of genetics into every field of medicine, stronger preclinical and clinical medical student education in genetics is needed. The explosion of genetic information cannot be addressed by simply adding content hours. We proposed that students be provided a tool to access accurate clinical information on genetic conditions and, through this tool, build life-long learning habits to carry them through their medical careers. ::: ::: ::: METHODS ::: Surveys conducted at the Johns Hopkins University School of Medicine revealed that medical students in all years lacked confidence when approaching genetic conditions and lacked a reliable resource for accurate genetic information. In response, the school created a horizontal thread that stretches across the first-year curriculum and is devoted to teaching students how to use Online Mendelian Inheritance in Man (OMIM) (http://omim.org) and the databases to which it links as a starting point for approaching genetic conditions. ::: ::: ::: RESULTS ::: The thread improved the first-year students' confidence in clinical genetics concepts and encouraged use of OMIM as a primary source for genetic information. Most students showed confidence in OMIM as a learning tool and wanted to see the thread repeated in subsequent years. ::: ::: ::: CONCLUSION ::: Incorporating OMIM into the preclinical curriculum improved students' confidence in clinical genetics concepts.
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paper_title: Initial impact of the sequencing of the human genome

paper_content:

To mark the tenth anniversary of the publication reporting a draft sequence of the human genome by the Human Genome Project, this issue of Nature presents three major papers about human genomics. Eric Lander, present at the birth of the Human Genome Project, looks back at what has been achieved in genomics and speculates on future prospects. Elaine Mardis discusses the DNA sequencing technologies that have catalysed the rapid genomic advances over the past ten years. And Eric Green, Mark Guyer and others from the US National Human Genome Research Institute provide a vision for the future of genomic medicine. The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.
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paper_title: Enhancing exposure to genetics and genomics through an innovative medical school curriculum

paper_content:

PURPOSE ::: Physicians entering medical practice in the 21st century will require more than a basic understanding of human genetics because of rapid progress in the field of genetics and genomics. The current undergraduate medical curriculum at most institutions is not adequate to prepare medical students for these challenges. Enhancing exposure to genetics throughout the medical school curriculum should help prepare the next generation of physicians to use genetic and genomic information for optimal patient care. ::: ::: ::: METHODS ::: We have introduced a Genetics Track Curriculum to the undergraduate medical curriculum at Baylor College of Medicine. ::: ::: ::: RESULTS ::: This track runs in parallel to the existing 4-year curriculum and includes didactic sessions, small group discussions, longitudinal clinical experiences, clinical and laboratory rotations, community outreach, and scholarly projects related to genetics. It also provides the students a means to network and discuss topics and career paths in medical genetics. ::: ::: ::: CONCLUSION ::: We have developed a novel curriculum that enhances genomic education for medical students with the ultimate goal of enabling our graduates to deliver more effective and personalized medical care. We believe that the Genetics Track Curriculum at Baylor College of Medicine can serve as a prototype for other medical schools across the country and abroad.
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paper_title: Ethical Challenges in Teaching Genetics for Medical Students

paper_content:

Although inclusion of ethics as a study course in medical students’ curricula is a common practice, special approaches in teaching ethics in the context of genetics should be considered. In the realm of genomics, there are several ethically sensitive topics such as diagnosis of genetic diseases, in vitro fertilization, and identification of genetic susceptibility to common diseases. In addition, in communication with the general public, genetic terms should be used with caution. Demonstration of the phenotypes of affected individuals should be regarded as a particular aspect of teaching genetics. In a description of a patient’s phenotype, not only is it necessary to provide scientifically precise characteristics of a patient; voice timbre, facial expression, and body language should also be carefully controlled. Furthermore, in medicine, the theory–practice gap is a problematic aspect, and students often find it difficult to apply knowledge on ethical issues to real situations in clinics. For this purpose, clinical cases are presented during classes and their analysis requires a very respectful attitude on the part of both students and lecturers. For many genetic diseases, evaluation of minor anomalies such as a curved fifth finger, low situated ears, or missing of some teeth is required. Some minor anomalies are found in healthy individuals too, and interpretation of such features must therefore be considered carefully. This article describes our experiences in teaching genetics at Riga Stradins University, ethical problems faced while teaching genetics, and their solutions.
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paper_title: Successful Implementation of Genetic Education for Native Americans Workshops at National Conferences

paper_content:

Genetic Education for Native Americans (GENA) was a National Human Genome Research Institute (NHGRI)/Ethical, Legal, and Social Implications (ELSI)-funded educational intervention designed to provide a unique genetics education program for Native American college and university students. A curriculum was developed and implemented in workshops in geographically diverse settings throughout the United States, primarily in conjunction with regional and national scientific conferences that include substantial numbers of Native American attendees. The original curriculum includes 24 objectives and has been offered in two formats, as a 16-hr "comprehensive" program and in briefer workshops (referred to as "customized" hereafter) that are designed to include objectives for selected audiences. Both formats teach sufficient genetics to allow discussion and understanding of the ELSI and cultural issues related to genetics science. This article describes the evaluation findings from our implementation of both formats of the GENA curriculum.
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paper_title: Playback Theatre as a tool to enhance communication in medical education

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Playback Theatre (PT) is an improvisational form of theatre in which a group of actors “play back” real life stories told by audience members. In PT, a conductor elicits moments, feelings and stories from audience members, and conducts mini-interviews with those who volunteer a moment of their lives to be re-enacted or “played” for the audience. A musician plays music according to the theme of each story, and 4-5 actors listen to the interview and perform the story that has just been told. PT has been used in a large number of settings as a tool to share stories in an artistic manner. Despite its similarities to psychodrama, PT does not claim to be a form of therapy. We offered two PT performances to first year medical students at Baylor College of Medicine in Houston, Texas, to bring the students a safe and fun environment, conducive to sharing feelings and moments related to being a medical student. Through the moments and stories shared by students, we conclude that there is an enormous need in this population for opportunities to communicate the many emotions associated with medical school and with healthcare-related personal experiences, such as anxiety, pride, or anger. PT proved a powerful tool to help students communicate. Keywords: Playback Theatre; medical education; stress; improvisation; arts (Published: 23 December 2013) Citation: Med Educ Online 2013, 18 : 22622 - http://dx.doi.org/10.3402/meo.v18i0.22622
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paper_title: The FDA and Genomic Tests — Getting Regulation Right

paper_content:

The authors review the nature of the proposal by the FDA for the regulation of next-generation sequencing and laboratory-developed tests in clinical medicine and offer thoughts on what is needed to protect consumers and foster innovation.
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paper_title: Personal genome testing in medical education: student experiences with genotyping in the classroom

paper_content:

BackgroundDirect-to-consumer (DTC) personal genotyping services are beginning to be adoptedby educational institutions as pedagogical tools for learning about humangenetics. However, there is little known about student reactions to such testing.This study investigated student experiences and attitudes towards DTC personalgenome testing.MethodsIndividual interviews were conducted with students who chose to undergo personalgenotyping in the context of an elective genetics course. Ten medical and graduatestudents were interviewed before genotyping occurred, and at 2 weeks and 6 monthsafter receiving their genotype results. Qualitative analysis of interviewtranscripts assessed the expectations and experiences of students who underwentpersonal genotyping, how they interpreted and applied their results; how thetesting affected the quality of their learning during the course, and what weretheir perceived needs for support.ResultsStudents stated that personal genotyping enhanced their engagement with the coursecontent. Although students expressed skepticism over the clinical utility of sometest results, they expressed significant enthusiasm immediately after receivingtheir personal genetic analysis, and were particularly interested in results suchas drug response and carrier testing. However, few reported making behavioralchanges or following up on specific results through a healthcare provider.Students did not report utilizing genetic counseling, despite feeling stronglythat the 'general public' would need these services. In follow-up interviews,students exhibited poor recall on details of the consent and biobankingagreements, but expressed little regret over their decision to undergo genotyping.Students reported mining their raw genetic data, and conveyed a need for furtherconsultation support in their exploration of genetic variants.ConclusionsPersonal genotyping may improve students' self-reported motivation and engagementwith course material. However, consultative support that is different fromtraditional genetic counseling will be necessary to support students. Beforeincorporating personal genotyping into coursework, institutions should leadmulti-disciplinary discussion to anticipate issues and incorporate teachingmechanisms that engage the ethical, legal, and social implications of personalgenotyping, including addressing those found in this study, to go beyond what isoffered by commercial providers.
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paper_title: A prudent path forward for genomic engineering and germline gene modification

paper_content:

A framework for open discourse on the use of CRISPR-Cas9 technology to manipulate the human genome is urgently needed
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paper_title: Sample Genetic Policy Language for Research Conducted With Native Communities

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Backgraound. We have been repeatedly asked to clarify genetic issues that have cultural ramifications for Native communities. Method. In the following commentary, we explain selected genetic issues that may vary among tribal nations; nonetheless, scientists should allocate sufficient time to meet with the tribal leaders and/or members of the tribal institutional review board prior to designing a genetic study to learn how selected issues are perceived by that specific tribal nation. Re- sults. Tribal nations generally encourage and mandate community-based participatory research methodology. Conclusions. We have included in this commentary draft language for study protocols to support researchers and tribal nations when developing studies pertaining to genetic issues. J Cancer Educ. 2005; 20(Suppl.):52-57.
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paper_title: Making the Case for Space: Three Years of Empirical Research on Learning Environments

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 Students in our new, technology‐enhanced learning spaces exceeded final grade expectations relative to their ACT scores, suggesting strongly that features of the spaces contributed significantly to their learning.  First‐year and sophomore students as well as students from metropolitan areas rated our new learning spaces significantly higher than their upper‐division and rural counterparts in terms of engagement, enrichment, effectiveness, flexibility, fit and instructor use.  Different learning environments affect teaching‐learning activities even when instructors attempt to hold these activities constant.  In their choices of informal study spaces, students fall into routines early and are reluctant to deviate from them even if they are not meeting their study goals.  Assignment types greatly impact the study environments students select.
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paper_title: Native American health: traditional healing and culturally competent health care internet resources.

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Health disparities between Native Americans and the general population of the United States are a major health concern. Traditional healing and culturally competent health care offer much promise in raising the health status of Native Americans. Traditional healing, although uniquely practiced by each indigenous culture, is generally a system of medicine based on the inseparability of mind, body, and spirit. Culturally competent health care, care that is congruent with the culture and language of the patient, is a growing initiative in western medicine. This article outlines Internet sites and online resources relevant to the study and practice of traditional healing and culturally competent health care.
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paper_title: PBL 2.0: enhancing problem-based learning through increased student participation

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Purpose: The purpose of this study was to test a new problem-based learning (PBL) method to see if it reinvigorated the learning experience. Method: A new PBL format called PBL 2.0, which met for 90 min two times per week, was introduced in 2009 into an 11-week integrated neuroscience course. One hundred second-year medical students, divided into 10 groups of 10, who had completed their first year of medical school using a traditional PBL format, participated in PBL 2.0. Students were prohibited from using computers during the first session. Learning objectives were distributed at the end of the first day to the small groups, and students were assigned to pairs/trios responsible for leading an interactive discussion on specific learning objectives the following day. Student-led ‘lectures’ were prohibited. All students were responsible for learning all of the learning objectives so that they could participate in their discussions. Results: One hundred and six students were surveyed and 98 submitted answers (92% response). The majority of groups adhered to the new PBL method. Students invested more time preparing the learning objectives. Students indicated that the level of interaction among students increased. The majority of students preferred the new PBL format. Conclusions: PBL 2.0 was effective in increasing student interaction and promoting increased learning. Keywords: problem-based learning; learning strategies; medical education; problem solving; critical thinking; problem-based curriculum (Published: 11 June 2012) Citation: Med Educ Online 2012, 17 : 17375 - http://dx.doi.org/10.3402/meo.v17i0.17375
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paper_title: Use of Standardized Patients in, Undergraduate Medical Genetics Education

paper_content:

Background and Purpose: To study the effectiveness of a standardized patient (SP) program in increasing the competence of medical students in assessing genetic risks and communicating genetic information to patients. Methods: Third-year medical students at the Mount Sinai School of Medicine had two encounters from 2001 to 2003 with the same SP, who portrayed a woman at risk for hereditary breast cancer. Assessment instruments included student self-assessment of skills, SP assessment of student communication skills, an observer checklist, grading of the student-drawn pedigree, and a knowledge test. Students also completed an evaluation form after the debriefing session at the end of each of the SP sessions. Results: The SP program was completed by 136 students. The student self-evaluation of skills instrument revealed that students who completed the SP program felt more competent in their ability to draw a pedigree, assess genetic risks based on family history and pedigree information, and communicate gene...
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Title: Improving Medical Students' Knowledge of Genetic Disease: A Review of Current and Emerging Pedagogical Practices

Section 1: Introduction
Description 1: Introduce the importance of genetics in medical education and the necessity of improved pedagogical practices due to rapid advancements in genetics.

Section 2: Engagement in Authentic Research to Develop Practice-Based Learning Skills in Preclinical Students
Description 2: Discuss the value of engaging preclinical students in actual research work to prepare them for practical application of genetics in their medical careers.

Section 3: Applying a Molecular, Evidence-Based Approach to Integrate Genetics Across Medical Curricula
Description 3: Explore the necessity of starting genetics education with molecular biology principles and integrating these concepts throughout the medical curriculum.

Section 4: Techniques to Implement a Hands-On Evidence-Based Genetics Curriculum
Description 4: Describe various practical methods and activities like virtual labs and concept mapping that can be integrated into medical curricula to reinforce genetics education.

Section 5: Fundamental Concepts of Genetics to Emphasize in a Medical Curriculum
Description 5: Identify the key concepts in genetics that are essential for medical students and the most effective evidence-based methods for teaching these concepts.

Section 6: Enabling Medical Students to Apply Modern Genetics and Genomics Knowledge to Successful Medical Practice
Description 6: Discuss strategies for integrating genetics and genomics tools into medical school curricula to boost confidence and competence among future medical professionals.

Section 7: Communicating Genetics Information to Patients
Description 7: Highlight the importance of teaching medical students how to effectively communicate complex genetic information to patients in an accessible and compassionate manner.

Section 8: Addressing the Ethical, Legal, and Social Implications of Genetic Information
Description 8: Discuss the need to educate students on the ethical, legal, and social implications of genetic information to ensure responsible and compassionate patient care.

Section 9: Clinical Training for Specialized Careers in Genetics
Description 9: Outline the specialized clinical training necessary for medical geneticists and the importance of increasing the number of professionals in this field.

Section 10: Conclusion
Description 10: Summarize the current state of genetics education in medical programs and reinforce the importance of integrating genetics education across all stages of medical training for future professionals.