美欧医学遗传学专科和相关专职体系的发展及其对医疗保健的影响北大核心CSCD

人类医学遗传学知识的积累以及对遗传性疾病的诊断、预防和治疗的需求催生了医学遗传学这一全新的医学专科和相关遗传咨询师及遗传技师的专职体系。本文首先介绍了美国医学遗传学专科对于高级临床遗传医师和遗传检测检验师的培训体系及中级遗传咨询师及初级遗传技师的培训方法,同时概述了这一规范的三级教育体系对培训基地、课程、学历和核心能力的要求以及各级专业人才的构成和数量,然后简要介绍了欧盟和加拿大的医学遗传学专科建设和发展现状,最后总结了美国医学遗传学会在遗传和基因组医学诊断治疗规范的制定和在遗传检测监管中的主导地位、对遗传性疾病临床服务和科研转化的促进作用、及对提高医疗卫生从业人员和公众遗传学知识的重要影响。美国医学遗传专科是通过系统转化基础科研和建立专业资质来发展新型医学专科的范例,它对中国遗传和基因组医学的战略性、前瞻性和创新性发展提供了一个参考模式。     

因特网循证医学信息资源的分布与检索

在简单回顾循证医学产生与发展历史的基础上,从电子期刊、网上循证医学资源中心、循证医学图书馆、循证医学元搜索引擎和临床实践指南等方面探讨了因特网循证医学资源的分布,提出了循证医学网络信息资源的检索方法与检索策略。     

医学专家们,您对国内临床实践指南知多少?

<正>中国临床指南(1)中国临床指南文库China Guideline Clearinghouse,CGC:http://cgc-chinaebm.org/由中国医师协会循证医学专业委员会和中华医学杂志社共同发起建设,旨在收录中国医学期刊近5年内发表的临床实践指南,为临床工作者、管理机构和社会大众提供查询临床指南的平台。中国临床指南文库可以输入检索词进行检索,或使用中国医师协会网站的高级检索、指南浏览、指南索引等功能。     

医学专家们,您对中国临床实践指南知多少?

<正>中国临床指南⑴中国临床指南文库:China Guideline Clearinghouse,CGC:http://cgc-chinaebm.org/由中国医师协会循证医学专业委员会和中华医学杂志社共同发起建设,旨在收录中国医学期刊近5年内发表的临床实践指南,为临床工作者、管理机构和社会大众提供查询临床指南的平台。中国临床指南文库可以输入检索词进行检索,或使用中国医师协会网站的高级检索、指南浏览、指南     

循证医学与医院图书馆信息服务

随着现代医学的发展和医学模式的转变，20世纪90年代诞生了以注重证据为基础的临床医学，即“循证医学”，循证医学要求临床医生应通过多年的临床实践熟悉掌握临床业务技能，提高对疾病的判断能力和积累治疗经验。同时还要求临床医生具备文献检索能力，从更广泛范围的临床研究结论中获取最新的、可靠的信息以指导自己的治疗决策。针对这种需求医院图书馆应在提高信息服务人员素质的同时拓宽信息服务的途径及范围，优化服务资源，建立循证医学特色数据库，改变服务模式，使信息服务更加综合化、专业化和数字化。     

医学专家们,您对中国临床实践指南知多少?

<正>中国临床指南(1)中国临床指南文库:China Guideline Clearinghouse,CGC:http://cgc-chinaebm.org/由中国医师协会循证医学专业委员会和中华医学杂志社共同发起建设,旨在收录中国医学期刊近5年内发表的临床实践指南,为临床工作者、管理机构和社会大众提供查询临床指南的平台。中国临床指南文库可以输入检索词进行检索,或使用中国医师协会网站的高级检索、指南浏览、指南索引等功能。     

医学专家们,您对中国临床实践指南知多少?

<正>中国临床指南(1)中国临床指南文库:China Guideline Clearinghouse.CGC:http://cgc-chinaebm.org/由中国医师协会循证医学专业委员会和中华医学杂志社共同发起建设,旨在收录中国医学期刊近5年内发表的临床实践指南,为临床工作者、     

2011年循证医学与临床实践指南制定、评价和解读方法学研讨会通知

由中国医师协会循证医学专业委员会主办,北京大学循证医学中心、亚太循证医学联盟（Asia Pacific EBM Network）协办的“循证医学与临床实践指南制定、评价和解读方法学研讨会”将于2011年9月1～3日在北京召开。     

浅议循证医学与医学教育的关系

循证医学(EBM)思想来源于临床实践,目前已广泛深入到各种临床实践和基础研究。循证医学思想不仅对医药、卫生的各个领域产生了重大影响,也对医学教育、教学改革产生了影响。分析循证医学与医学教育的关系对于促进医学教育改革和推动循证医学发展都具有重要的现实意义。笔者从循证医学的发展概况及其基本内涵对循证医学与医学教育的关系作简要分析。     

循证医学与医院图书馆网络环境下信息服务

随着现代医学的发展和医学模式的转变 ,2 0世纪 90年代诞生了以注重证据为基础的临床医学 ,即“循证医学”。循证医学要求从医人员以理论为基础加个人经验的医学模式向以科学证据为基础的模式转变。循证医学模式要求医生在临床工作中不断提出问题并通过严格的检索、挑选和评价文献来回答这些问题 ,加强知识更新以及阐明医院图书馆网络环境下信息服务的途径和措施 ,优化服务资源 ,建立循证医学特色数据库 ,拓宽服务范围 ,改变服务模式 ,信息服务更加综合化、专业化和数字化以及提高信息服务人员素质要求。     

Meeting the challenges facing clinical research: solutions proposed by leaders of medical specialty and clinical research societies.

The development of a robust national clinical research enterprise is needed to improve health care, but faces formidable challenges. To define the impediments and formulate solutions, the Institute of Medicine's Clinical Research Roundtable convened leaders from medical specialty and clinical research societies in 2003. Participants considered how to influence clinical research funding priorities, promote mechanisms to train physicians and other health care professionals to conduct clinical research, and how to encourage health care providers to follow evidence-based medical practice. Consensus emerged on multiple issues, including intersociety collaboration, the need for a core clinical research curriculum for training the new cadre of clinical researchers, joint advocacy for increased funding of clinical research and for the education of policymakers and the public on the benefits of clinical research. Specific recommendations were made on mechanisms for recruitment, training, and retention of clinical research trainees and mentors. Steps were outlined (1) to overcome career disincentives and develop appropriate reward systems for mentors and trainees, (2) to encourage use of web-based and continuing-medical-education-based mechanisms to bring practitioners up to date on issues in and results of clinical research, and (3) to create incentives for individuals, clinics, and hospitals to practice evidence-based medicine (EBM). Collectively, the response and proposed strategies can serve as a roadmap to improve clinical research funding and training, evidence-based medical practice, and health care quality.     

Locus-specific databases: from ethical principles to practice

Locus-specific databases (LSDBs) play an essential role in clinical care and research. They differ from traditional genetic databases in that they propose to place the mutations of "anonymized" patients directly on the World Wide Web. The proliferation of ethical guidelines and legal requirements affects the rapid and free transmission of clinical data, which is vital for both the daily management of patients and research into better diagnostics and treatment. This paper proposes a review of ethical principles endorsed by international instruments that are of particular relevance to LSDBs. It aims to translate them into 12 proposed practical guidelines that LSDB curators can use in collecting data for clinical research. Perhaps these guideposts will serve as a first step toward translating principles into practice.     

Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients

Objective: To better define the knowledge and attitudes of practicing physicians about genetics; specifically molecular genetics. Further, to examine differences between four practice specialties and to assess variables that affect both knowledge and attitudes. Design: A mail-in survey was sent to a random sample of non-geneticist physicians, with a second copy sent to non-responders. Questions included sociodemographic variables, sources of current knowledge and education in genetics, clinical experience with genetic disease, self-confidence in providing genetic counseling, attitudes towards referring patients to a genetic center, awareness of molecular genetic testing and attitudes towards its use in clinical practice and population screening. Setting. Responses were obtained from over 900 practicing physicians in the Canadian province of Ontario (population 10 million). Genetic services are provided through nine major and several outreach centers. Molecular diagnostic services are provided through six provincially funded laboratories. There are no direct costs to the patient for any genetic service. Participants: A random sample of family physicians, obstetricians, pediatricians and internists was surveyed from both private and hospital based practices. Results and conclusion: Responses varied by specialty, years from graduation, gender, and type of practice. Pediatricians and obstetricians were more knowledgeable about genetics, had more interaction with genetic services and were more supportive of their utility. A major proportion of physicians continue to rely upon undergraduate and medical school courses for knowledge, and the specialties showed different preferences for seeking information. A majority of physicians considered their knowledge of genetics to be adequate, but a minority were confident to provide genetic counseling for simple genetic scenarios. Relatively few had actually made use of DNA diagnostic services and there was relatively poor knowledge of what services were available.     

Lost in transition: challenges in the expanding field of adult genetics

It is increasingly clear that medical genetics has broad relevance in adult clinical medicine. More adult patients with genetic conditions are being recognized, genetic testing for adult-onset genetic conditions is expanding, and children with genetic conditions are now more likely to survive to adulthood. While the number of patients who could benefit from medical genetic services increases, adult care providers are less well educated about clinical genetics and are not sufficiently prepared to meet the growing needs of this population. Genetics professionals may also be ill-suited for this challenge, since geneticists and genetic counselors have traditionally had greater experience in pediatric and prenatal settings. Communication between primary care physicians who treat adults and the genetics community is currently suboptimal and the identification and subsequent referral of adult patients for genetic services need improvement. Finally, published guidelines that address how to deliver genetic services to adult patients are unavailable for many genetic conditions. In this article we address the challenges of transitioning genetics services from traditional, and largely pediatric-based models to paradigms that can best address the needs of adult patients with genetic conditions. Potential solutions and the practicality of implementation of a team-based approach to adult genetic medicine, including the application of genetic counseling, are also discussed.     

从历史的观点谈我国医学遗传学的出路

通过对医学遗传学的发展史进行回顾,可知医学遗传学是一门临床学科,临床遗传学是它的临床部分。它的飞速发展是由于基础学科与临床遗传工作的密切互动。不幸的是,在我国,临床遗传工作没有受到应有的重视。迄今,医学遗传学及其临床部分还不是一门医学专业。这种情况与发达国家相距甚远。目前应立即确认医学遗传学及其临床部分是一门医学专业,并在有条件的大医院内,积极推动临床遗传学服务工作。     

Evidence based medicine in practice: lessons from a Scottish clinical genetics project

OBJECTIVE—To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland.
DESIGN—Systematic review of published reports followed by consensus conferences to prepare clinical guidelines and integrated care pathways. Structured review of medical records before and after introduction of integrated care pathways to document changes in practice. Survey of staff views on procedures adopted.
SETTING—All four clinical genetics centres in Scotland.
RESULTS—Project resulted in reduced variation in practice across centres, improved data recording in medical records, and improved communication with other professional groups. A very poor evidence base for management of patients with the conditions studied was found.
CONCLUSIONS—A collaborative structure for undertaking clinical research would improve the evidence base for current practice. National discussion of the boundaries of responsibility of care for the long term management of patients with these disorders is required. The integrated care pathway approach shows promise as a means of facilitating the development of audit within clinical genetics services.


Keywords: clinical guidelines; audit; evidence based medicine; care pathways     

Democratizing genomics: Leveraging software to make genetics an integral part of routine care

Genetic testing can provide definitive molecular diagnoses and guide clinical management decisions from preconception through adulthood. Innovative solutions for scaling clinical genomics services are necessary if they are to transition from a niche specialty to a routine part of patient care. The expertise of specialists, like genetic counselors and medical geneticists, has traditionally been relied upon to facilitate testing and follow‐up, and while ideal, this approach is limited in its ability to integrate genetics into primary care. As individuals, payors, and providers increasingly realize the value of genetics in mainstream medicine, several implementation challenges need to be overcome. These include electronic health record integration, patient and provider education, tools to stay abreast of guidelines, and simplification of the test ordering process. Currently, no single platform offers a holistic view of genetic testing that streamlines the entire process across specialties that begins with identifying at‐risk patients in mainstream care settings, providing pretest education, facilitating consent and test ordering, and following up as a “genetic companion” for ongoing management. We describe our vision for using software that includes clinical‐grade chatbots and decision support tools, with direct access to genetic counselors and pharmacists within a modular, integrated, end‐to‐end testing journey.     

Inherited eye diseases in Turkey: Current approaches and future directions

The aim of this review is to reveal Turkey's current status of medical practice in inherited eye diseases and the necessary steps to improve healthcare services and research activities in this area. Since consanguinity rate is high, disease burden is estimated to be high in Turkey. Universal health insurance system, easily accessible medical specialists, increasing genetic test, and counseling opportunities are the key advantages of Turkey's healthcare system. However, specialized clinics for inherited eye diseases, low‐vision rehabilitation services, training of ophthalmologists about the recent developments in ocular genetics, and multidisciplinary translational research are the main headlines needed to be focused for better health services and successful research in Turkey.     

Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery

PurposeThe Institute of Medicine recommended the utilization of metrics to improve quality in health care, although they have rarely been used in genetics. This study developed and tested a set of metrics for a quality assessment tool for genetic servicesMethodsA systematic review of literature, guidelines, and consensus statements identified candidate measures for a possible assessment tool. An expert panel conducted a modified Delphi technique to rank the metrics. Ratings were computed to generate a score for each metric, creating a set of metrics for consensus discussions, pilot testing, and feasibility testing in eight Midwestern states.ResultsThe panel reduced 61 candidate metrics to 21 for pilot testing in two states, which further limited and refined the set to 16 metrics. These 16 were categorized into five domains: service capacity, access to care, data systems, performance reporting, and workforce. Further feasibility testing in one Regional Genetics Collaborative identified the tool’s usefulness and barriers to implementation.ConclusionsThese quality metrics for both clinical and public health genetics across the lifespan may help medical professionals and policymakers evaluate quality and cost-effectiveness of genetic services on a statewide basis and stimulate outcome-oriented, health services research in medical genetics and genomics.     

Developing primary care review criteria from evidence-based guidelines: coronary heart disease as a model.

BACKGROUND: National Health Service (NHS) initiatives such as Clinical Governance, National Service Frameworks and the National Institute of Clinical Excellence (NICE) clinical guidelines programme create demand for tools to enable performance review by healthcare professionals. Ideally such tools should enable clinical teams to assess quality of care and highlight areas of good practice or where improvement is needed. They should also be able to be used to demonstrate progress towards goals and promote quality, while not unnecessarily increasing demand on limited resources or weakening professional control. AIM: To formulate and evaluate a method for developing, from clinical guidelines, evidence-based review criteria that are proritised, useful and relevant to general practices assessing quality of care for the primary care management of coronary heart disease (CHD). DESIGN OF STUDY: A two-stage study comprising, first, a review of available evidence-based guidelines for CHD and, second, the definition and prioritization of associated review criteria from the most highly rated guidelines. SETTING: Primary healthcare teams in England. METHODS: Using structured methods, evidence-based clinical guidelines for CHD were identified and appraised to ensure their suitability as the basis for developing review criteria. Recommendations common to a number of guidelines were priortszid by a panel of general practitioners to develop review criteria suitable for use in primary care. RESULTS: A standardised method has been developed for constructing evidence-based review criteria from clinical guidelines. A limited, prioritized set of review criteria was developed for the primary care management of CHD. This was distributed around the NHS through the Royal College of General Practitioners for use by primary care teams across the United Kingdom. CONCLUSION: Developing useful, evidence-based review criteria is not a straightforward process, partly because of a lack of consistency and clarity in guidelines currently available. A method was developed which accommodated these limitations and which can be applied to the development and evaluation of review criteria from guidelines for other conditions.