二代基因测序数据管理和大数据平台在精准医学中的应用

精准医学集合了多种数据,包括组学、临床、环境和行为等,是对疾病进行个性化治疗、预防和管理的科学。随着基因测序费用的大幅下降,人们对肿瘤等疾病的认识从传统病理到分子水平的飞跃等,相关科学的发展和普及推动了精准医学的诞生和发展,将更加深远地影响着人类的健康。本文介绍了精准医学的概念、目的及应用,介绍了二代DNA测序技术在精准医学中的应用,认为基因组学数据、样本管理、数据质量控制标准以及数据管理平台等是实现精准医学的基础,智能化精准医疗将是来的发展方向。进行展望的同时,也认为基因组学海量数据的规模特点、各种健康应用在推动数据管理平台的发展的同时,也对其演进提出了挑战。     

2022年精准医学发展态势

精准医学的形成是科技自身发展的客观必然,也是公众对健康需求的推动,体现了医学科学发展趋势,也代表了临床实践发展的方向。经过几年的快速发展,精准医学研究理念和范式已广泛推广,精准医学体系逐渐成熟走向应用。该文在系统梳理2022年精准医学领域的发展布局与举措,前瞻领域发展新趋势、研究新进展、产业新突破的基础上,展望了领域未来发展前景。当前,精准医学的科学价值与健康维护作用进一步凸显,各国系统布局、长期规划、持续加码支持精准医学发展;大型人群队列平台建设广泛开展、疾病研究与疾病精准防诊治方案开始成熟,诊断方案与治疗药物的开发思路及审批标准也开始发生转变,精准医学发展进入新阶段。未来,随高质量大型队列的建设、生命组学技术的发展,以及相关政策体系的完善,精准医学将呈现巨大发展前景。     

基于信息化平台的临床科室精准管理探索

精准医学时代,临床科室的“精准管理”是应用高度结构化、自动化、精准化的信息管理平台进行科室的全面监管和预警,能够通过精准预测,精准监督,精准定位来提高预测准确性和预测能力,制定合理有效的计划目标,规范医疗诊疗行为,改进医疗服务流程,提高科研效率质量以及有针对性地进行人才培养和个性化教学管理,在医院的科室管理中具有较好的临床应用性及推广价值。     

新时期医学科研档案管理的特点和问题

随着医学科学研究的迅速发展,医学科研档案管理实践中暴露出了一系列新的问题和矛盾,本文从医学科研档案的特点和现代医学研究发展的要求出发,对医学科研档案管理体制、管理模式、管理技术、全员档案意识、技术平台建设以及档案的开发利用等方面进行了深入的探讨。目的是增强档案意识,提高科研档案管理水平,更好地为医学科研活动服务。     

新时期医学科研档案管理的特点和问题

随着医学科学研究的迅速发展,医学科研档案管理实践中暴露出了一系列新的问题和矛盾,本文从医学科研档案的特点和现代医学研究发展的要求出发,对医学科研档案管理体制、管理模式、管理技术、全员档案意识、技术平台建设以及档案的开发利用等方面进行了深入的探讨。目的是增强档案意识,提高科研档案管理水平,更好地为医学科研活动服务。     

医学模式的转变与生物学的发展

医学模式是指一定历史时期内医学发展的基本观点、概念框架、思维方式、发展规范的总和。它反映人们用什么观点和方法研究、处理健康与疾病问题 ,决定着人们对人的生命、生理、预防、治疗等问题的基本观点 ,指导人们的医疗实践活动。医学模式是由各个时期的医学发展水平、医学研究的主要方法和思维方式决定的 ,是与各个时期自然科学的总体状况和哲学思想紧密联系的 ,尤其是生物学的发展状况。生物学是研究生命现象的本质 ,探讨生物发生和发展规律、生物之间以及生物与环境之间相互关系的科学。人是生物的一种 ,也是生物学的研究对象。现代医…     

对精准医疗的系统生物学思考

精准医疗是指针对每个病人的遗传特征量体裁衣式地制定医学治疗方案,这是以全基因组测序为基础的,通过分层将个体归入疾病的不同亚组,而后有的放矢地采取预防性或治疗性干预措施。表观遗传学对个体的影响、生物信息学人才的培养、表型资料的作用、生物样本库建设以及医学数据的有效利用等,都是精准医疗研究的发展过程中亟待解决的问题。需要充分重视并运用系统生物学及系统医学的理论和方法,通过整合分析多个维度与多个层次的生命组学的动态变化,从而整体地、精确地认识疾病,提高精准医疗研究的效率,为医学事业和人类健康做出更大贡献。     

医学微生物学实验课教学浅谈

医学微生物学是一门实践性极强的课程。通过实验课的学习 ,学生一方面可检查验证并加深对理论知识的掌握。另一方面 ,实验课还可培养学生的动手能力及科研思维能力。每个实验都有其背景资料、实验原理、操作要点、结果观察及分析讨论等内容 ,使学生了解本学科研究的基本方法和手段。但是长期以来 ,受重理论、轻实践 ,重知识的传授 (或学习 )轻能力的培养的观念影响。包括医学微生物学在内的大多数实验课未能独立设课 ,处于从属于理论课的地位。这在很大程度上影响了人才培养目标。本文从教学过程的各个环节谈谈我们的一些浅见。1　实验前讲…     

以问题为导向的混合式医学细胞生物学实验课探索与实践

医学细胞生物学是医学院校本科生必修的专业基础课,该课程的实验环节对提高学生的实践能力和培养学生创新思维有着举足轻重的作用。为培养复合型医学创新人才,该研究从转变实验课传统教学理念入手,以科学问题为导向,在培养科研创新思维及激发学生自主实践操作方面进行教学设计,采用翻转课堂、案例式等教学方法,并综合运用网络化教学平台和国家精品课程等线上资源,融入思政教育内容,最终建立“科学问题、前置式学习、贯穿式跟踪评价”相结合的实验教学新模式。通过对新教学模式的探索和实践,旨在培养科研思维活跃、实践能力强,且适应新时代发展需要的新医科人才。     

精准医疗与结核病

精准医疗概念的提出开启了一个医学新时代,且在世界范围内引起了一场科技竞争。精准医疗的实质包括精准诊断和精准治疗,其具体内容,结合各国实际情况各不相同。对中国而言,慢性传染病特别是结核病造成了严重疾病负担,应作为重点研究对象,实际上该领域中各种形式的精准医疗已然展开。精准医疗作为一种新的理念,贯穿于结核病的研究和治疗中,势必对人类结束结核病的肆虐和消除结核病作出重大贡献。     

医院科研管理与创新对转化医学实施的推动作用

转化医学是近年来国际医学界推崇的一个重要医学理念,正日益成为生命科学和医学研究关注的热点。转化医学已不仅强 调临床医学与基础医学的结合,而且涉及多个学科之间的融会贯通。因此,医院科研管理的支持和重视程度转化医学实施的主要 动力,而科研项目的创新性、可行性是决定转化医学研究立项的关键。我院自2010 年成立转化医学研究中心以来,已将多项成果 成功转化并应用于临床实践,为生命科学研究领域中人类健康计划的发展提供了借鉴。本文结合我院实际,分析科研管理对转化 医学成果实施的促进作用,为医疗机构的科研管理人员提供参考。     

A Not-So-Gentle Refutation of the Defence of Homeopathy

In a recent paper, Levy, Gadd, Kerridge, and Komesaroff attempt to defend the ethicality of homeopathy by attacking the utilitarian ethical framework as a basis for medical ethics and by introducing a distinction between evidence-based medicine and modern science. This paper demonstrates that their argumentation is not only insufficient to achieve that goal but also incorrect. Utilitarianism is not required to show that homeopathic practice is unethical; indeed, any normative basis of medical ethics will make it unethical, as a defence of homeopathic practice requires the rejection of modern natural sciences, which are an integral part of medical ethics systems. This paper also points out that evidence-based medicine lies at the very core of modern science. Particular arguments made by Levy et al. within the principlist medical ethics normative system are also shown to be wrong.     

Space Medicine—A Review of Current Concepts

Space medicine deals with the branch of research involved with the adaptation of humans to the unique environment of space. More than 100 people have traveled in space. The day will come when some human beings will spend all their time in space. Medical problems encountered in space, such as motion sickness, negative nitrogen and calcium balance, anemia and radiation exposure, are issues that already affect medical practice outside aerospace medicine.     

现代生物医学科技前沿与中西医结合交叉

本文讨论了中医现代化和中西医结合的有关问题,指出中医现代化工作可分为三个方面：第一方面,应当培养大批临床上过硬的中医人才,在临床上有所突破,以此为基础进行理论研究;第二方面,将中医理论转换成现代语言;第三方面,中医与包括现代生物医学在内的多学科结合。阐述了现代生物医学科技前沿与中西医结合交叉而产生的新学科一光子中医学。指出光子中医学将为中西医结合提供理论和技术平台,成为多学科研究中医的代表性学科,并将成为中医现代化的一个重要方向,为人类卫生事业作出重大贡献。     

Medical Education and Research: The Foundations of Quality Health Care

In May 1964 the Royal Commission on Health Services declared that “health research is essential to health progress”. However, since that time the means of providing adequate health care have received far less attention than have methods of payment for physicians'' services. Because medical education and research is the source from which all other health benefits flow, urgent attention must be paid to the adequate support of teacher-scientists, as set forth in the Woods, Gordon (Gundy) report. It is the numbers and quality of these men and women, more than any other factor, that will determine the shape of medical science and, hence, medical practice in Canada in the future. Expensive as it is, Canadian medicine and Canadian medical scientists must have generous support if medical care in this country is to be of high quality.     

A critique of race-based and genomic medicine

Now that a composite human genome has been sequenced (HGP), research has accelerated to discover precise genetic bases of several chronic health issues, particularly in the realms of cancer and cardiovascular disease. It is anticipated that in the future it will be possible and cost effective to regularly sequence individual genomes, and thereby produce a DNA profile that potentially can be used to assess the health risks for each person with respect to certain genetically predisposed conditions. Coupled with that enormous diagnostic power, it will then depend upon equally rapid research efforts to develop personalized courses of treatment, including that of pharmaceutical therapy. Initial treatment attempts have been made to match drug efficacy and safety to individuals of assigned or self-identified groups according to their genetic ancestry or presumed race. A prime example is that of BiDil, which was the first drug approved by the US FDA for the explicit treatment of heart patients of African American ancestry. This race-based approach to medicine has been met with justifiable criticism, notably on ethical grounds that have long plagued historical applications and misuses of human race classification, and also on questionable science. This paper will assess race-based medical research and practice in light of a more thorough understanding of human genetic variability. Additional concerns will be expressed with regard to the rapidly developing area of pharmacogenomics, promoted to be the future of personalized medicine. Genomic epidemiology will be discussed with several examples of on-going research that hopefully will provide a solid scientific grounding for personalized medicine to build upon.     

Competencies in premedical and medical education: the AAMC-HHMI report

One hundred years ago, Flexner emphasized the importance of science in medicine and medical education. Over the subsequent years, science education in the premedical and medical curricula has changed little, in spite of the vast changes in the biomedical sciences. The National Research Council, in their report Bio 2010, noted that the premedical curriculum caused many students to lose interest in medicine and in the biological sciences in general. Many medical students and physicians have come to view the premedical curriculum as of limited relevance to medicine and designed more as a screening mechanism for medical school admission. To address this, the Association of American Medical Colleges and the Howard Hughes Medical Institute formed a committee to evaluate the premedical and medical school science curricula. The committee made a number of recommendations that are summarized in this essay. Most important were that competencies replace course requirements and that the physical sciences and mathematics be better integrated with the biological sciences and medicine. The goal is that all physicians possess a strong scientific knowledge base and come to appreciate the importance of this to the practice of medicine. While science education needs to evolve, Flexner's vision is as relevant today as it was 100 years ago.     

Hempelian and Kuhnian approaches in the philosophy of medicine: the Semmelweis case

Semmelweis's investigations of puerperal fever are some of the most interesting in the history of medicine. This paper considers analysis of the Semmelweis case. It argues that this analysis is inadequate and needs to be supplemented by some Kuhnian ideas. Kuhn's notion of paradigm needs to be modified to apply to medicine in order to take account of the classification schemes involved in medical theorising. However with a suitable modification it provides an explanation of Semmelweis's failure which is argued to be superior to some of the external reasons often given. Despite this success in applying Kuhn's ideas to medicine, it is argued that these ideas must be further modified to take account of the fact that medicine is not a natural science but primarily a practice designed to prevent and cure diseases.     

The Oslerian Tradition and Changing Medical Education: A Reappraisal

Although only 21 of Sir William Osler''s 45 years in academic medicine were spent in US medical schools (1884 to 1905), he played a major role in shaping modern medical education in this country. The integration of scholarship with patient care, together with the science and art of medicine, was central to Osler''s teaching and writing throughout his career. A classic generalist and a charismatic clinical teacher, he taught by example and was as concerned with the ideals of medicine as with its science and knowledge.Many changes have reshaped the content, process and concerns of American medical education since Osler''s time. Subspecialization and balkanization of medical education and practice have become dominant. Many of the important issues in medicine today do not fit neatly into the domain of any of the established specialties or medical organizations. There is now an urgent need to promote generalist attitudes in medicine, and the Oslerian tradition has much to offer in approaching today''s problems in medical education and practice.