《医学遗传学》编写提纲

说明医学遗传学是医学教育中的一门基础医学课程。它研究人类疾病与遗传的关系,即研究人类遗传病的发生、传递规律、诊断、治病和预防的科学。近年来,由于细胞遗传学、分子细胞遗传和分子遗传学的进展,使医学遗传学有了新面貌。人体的发育、分化是细胞中的ＤＮＡ分子所...     

关于开辟“临床遗传学论坛”的通知

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知CSCD

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知北大核心CSCD

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知CSCD

医学的终极目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于开辟“临床遗传学论坛”的通知

医学的终级目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”、“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。     

关于医学遗传学实验课程的几点认识

医学遗传学是一门新兴的边缘学科,在三年级的医学生中开设此理论课程,就好比在细胞生物学、生理学、生物化学、遗传学和病理生理学等基础学科与临床各学科之间架起了一座纵横贯通的桥梁,通过它,医学生们才能在融汇贯通的基础上去领悟更新、更深的分子医学（ｍｏｌｅｃ...     

成人医学专科开设医学遗传学课程的研究

医学遗传学课程作为必修课，这对培养学生的遗传预防意识起了一定的作用。但对成人专科临床医学专业遗传学课程到底应给学生什么东西？作为临床医生在遗传预防和提高人口质量方面应具体承担什么任务？教材应如何改革？该门课程应如何与其他课程相衔接？为一步贯彻因材施教...     

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

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

Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents

PurposeApproximately 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.MethodsTwo 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.ResultsProgram 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.ConclusionGeneticists 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.     

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

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

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

PurposePhysicians 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.MethodsWe have introduced a Genetics Track Curriculum to the undergraduate medical curriculum at Baylor College of Medicine.ResultsThis 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.ConclusionWe 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.Genet Med 2012:14(1):163–167.     

Scope of coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine: A curriculum analysis

We appraised the scope of medical genetics and genomics concepts covered in the pre-clerkship programs of Canadian faculties of medicine through an analysis of course objectives. All course objectives linked to medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine were compiled. From this, the fraction of objectives dedicated to medical genetics and genomics was calculated. Course objectives were also categorized according to a curriculum and a competency classification. Of the 17 Canadian faculties of medicine, the complete set of course syllabi (5 faculties) or the listing of learning objectives (4 faculties) were obtained and reviewed. The fraction of learning objectives dedicated to medical genetics and genomics varied between 0.65% and 5.05%. From the objectives classification, “foundational knowledge” was most frequently covered (64% of the compiled objectives), while topics such as: “ethics and professionalism,” “communicate genetics information,” and “obtain specialist help” were covered by less than 5%. Coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine appears to be low. Genetics and genomics are playing a rapidly expanding role in healthcare and clinical practice and educational programs should consider this new reality.     

Origins of human genetics. A personal perspective

Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.Subject terms: Genetic counselling, Genetics     

Preimplantation genetics: A case for prospective action

Preimplantation genetics describes a newly-emerging field in medical genetics, the consequence of the implementation of clinical preimplantation diagnosis and the likely future development of germ-line gene therapy. Given the existing clinical and laboratory difficulties already demonstrated in preimplantation diagnosis and the sensitive ethical issues surrounding genetic manipulation of human embryos, there is a need for 1) critical and objective evaluation of developments in this field by human and medical geneticists and 2) development of guidelines for research and clinical practice in the years ahead. We propose a course of prospective action for preimplantation genetics implemented through the newly-formed American College of Medical Genetics in order to address the ethics, safety, accuracy, cost, and overall merit of preimplantation genetics. © 1994 Wiley-Liss, Inc.     

Medical Geneticists' duty to warn at-risk relatives for genetic disease

A patient who refuses to notify their relatives of potential at-risk status brings a genetics provider to face conflicting ethical principles and ill-defined legal precedent. Genetics professionals' views on the disclosure of patient information to at-risk relatives have remained largely unexamined. Prior analyses have been limited to identifying factors contributing to genetics providers' self-predicted responses in hypothetical scenarios. Our group was the first to examine the clinical experience of genetic counselors with this issue [Dugan et al., 2003]. We report here results from our follow-up survey of medical geneticists who are members of either the American Society of Human Genetics and/or American College of Medical Genetics in an effort to identify their experiences in warning at-risk relatives and the factors driving their decision-making processes. Over two-thirds of medical geneticists surveyed (69%, 143/206) believe they do bear responsibility to warn their patients' relatives when found to be at-risk for genetic disease. One-quarter (25%, 31/123) of medical geneticists who faced the dilemma of a patient refusing to notify their at-risk relatives seriously considered disclosure to those at-risk relatives without patient consent. Only four respondents proceeded to warn at-risk relatives of their status. Whereas genetic counselors cited emotional issues as playing a primary role in their decision not to warn, medical geneticists identified patient confidentiality, eventual case resolution by other means, and legal liability as the major factors leading to non-disclosure in 76% of actual scenarios. Responsibilities of medical geneticists, genetic counselors, and non-genetics healthcare professionals facing this issue will need to be more clearly defined to provide optimal medical care within the bounds of acceptable practice.     

The development and implementation of an in-service exam for medical genetics residency programs

PurposeIn-service exams are a commonly used educational tool in postgraduate medical education. Although most specialties utilize such an exam, medical genetics did not. It was decided in the spring of 2009 at the inaugural Medical Genetics Residency Program Directors (PDs) Group meeting to develop and implement such a test.MethodsUsing questions sent in from PDs, a 125-question exam was created, with 125 multiple-choice questions according to the format of the National Board of Medical Examiners. The exam covered genetics in the following areas: basic/molecular (~45 questions), cancer and adult (20), prenatal (20), biochemical (20), pediatric/dysmorphology (20). The exam was administered for the first time in February 2010, and again with modifications in 2011.ResultsIn total, 174 trainees from 35 programs completed the exam in 2010; in 2011 the number increased to 214, representing 39 US programs, and 4 Canadian programs. For both years, most participants were medical genetics residents (106 in 2010; 127 in 2011), but a substantial number of clinical laboratory fellows also participated (68 in 2010; 85 in 2011).ConclusionThe development and implementation of this test were an overall success, in that in two years we were able to secure almost 100% participation from medical genetics residency programs, and that we created an infrastructure to develop and implement this exam on a yearly basis. There is need for improvement, notably in the relatively low mean score and relatively narrow spread of scores. However, we believe that, with efforts under way to improve the quality of the questions, the in-service exam will become a fundamental tool in medical genetics residency education.Genet Med 2012:14(5):552–557     

Outline of a medical genetics curriculum for internal medicine residency training programs.

To keep pace with the rapid advances in medical genetics, internal medicine residency training programs need to train internists to develop new attitudes, knowledge bases, and skill sets. Currently, such programs have no medical genetics curriculum. Thus, to set a minimum standard for genetics education in the context of training in internal medicine, the Internal Medicine Residency Training Program Genetics Curriculum Committee was formed, with members representing professional organizations of medical geneticists, internists, genetic counselors, internal medicine and genetics residency program directors, and internal medicine residents. The committee's task was to develop a concise outline of a medical genetics curriculum for residents in internal medicine in accordance with requirements of the Residency Review Committee for Internal Medicine of the Accreditation Council for Graduate Medical Education. The curriculum outline was drafted and circulated for comment. Before publication, the final document was approved by those member organizations that had a policy of approving curricula. Key learning objectives of the curriculum include appreciation of the rapid advances in genetics, the need for lifelong learning, the need for referral, and the role of genetic counselors and medical geneticists, as well as developing the ability to construct and analyze a three-generation pedigree. A wide variety of teaching methods can be useful in these regards, including didactic lectures, multimedia CD- ROMs, and clinical experience. Teaching should be related to clinical experiences whenever possible. The curriculum developed by the committee and presented in this article will assist in teaching residents the attitudes, knowledge, and skills they will require.