Genetic testing and its implications: human genetics researchers grapple with ethical issues

To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.     

Direct-to-consumer genetic testing in Slovenia: availability,ethical dilemmas and legislation

Introduction

Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues.

Materials and methods

Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing.

Results

Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia.

Conclusions

Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.Key words: Direct-to-consumer genetic testing, DTC, ethics in genetics, legislation     

The effects of a genetic information leaflet on public attitudes towards genetic testing

Genetics opinion surveys often include information to ensure that respondents have sufficient understanding to give informed responses. The information is assumed to be neutral but may skew responses. We assessed the impact of a seemingly "neutral" information leaflet on attitudes towards genetic testing among 1,024 survey respondents, half of whom received the leaflet. The leaflet group reported higher levels of subjective understanding of genetic testing (68 percent vs. 53 percent), were mre interested in genetic testing (81 percent vs. 77 percent), and held more positive attitudes towards genetics than people who did not receive the leaflet. Information leaflets may have the intended effect of increasing understanding, but may also unintentionally influence reported views of genetics. In the light of the weight given to public consultation in today's governance and regulation of human genetics, increased awareness of how even seemingly neutral information can influence public attitudes is recommended.     

我国基因检测伦理监管政策法规研究 ——基于精准医学的视角

精准医学在数据安全与共享、隐私保护、临床应用和服务的操作程序及监督规范、遗传咨询这四方面提出了伦理监管挑战。本研究以基因检测为例,运用政策文本分析方法,分析我国基因检测伦理监管的政策法规现状与精准医学伦理监管内在要求之间的差距。基于政策文本分析结果,本研究提出为应对精准医学所带来的伦理挑战,我国的基因检测伦理监管应首先在现有政策法规基础上进行适当扩展及修正,并在这一过程中注重基因检测伦理监管政策法规的适应性、灵活性、敏感性。此外,本研究还建议我国应加强对相关从业人员的精准医学伦理培训。     

Theft in a wireless world

I explore philosophically the phenomenon of home wireless networks as used to share broadband Internet connections. Because such networks are frequently unsecured, third parties can use them to access the Internet. Here I consider carefully whether this kind of behaviour should be properly called theft. I begin with a brief non-technical introduction to 802.11 wireless networks. Subsequently, I present a four part argument – appealing to the unsecured nature of the networks discussed, entrenched software and hardware behaviours, trespass law, and the openness of ‹public park’ spectrum – suggesting that this kind of behaviour is permissible and should not be construed as theft. Substantively, I conclude that, despite the quite compelling considerations that these arguments bring to bear, this behaviour is theft. Additionally, I draw attention to significant flaws in the design and implementation of wireless technology (specifically in the out-of-the-box configuration for wireless access points and in the wireless connectivity of early versions of Windows XP) that facilitate the intentional and unintentional theft of Internet bandwidth. I suggest some simple mechanisms that could be incorporated into the technology which would serve to remove the ethical ambiguity in its usage by third parties, including adding the ability for a network owner to explicitly mark her network as not for public use,␣and changes to default hardware and software behaviours. I conclude by encouraging increased use of value-sensitive design practices in the development of future wireless technologies.     

How the Role of Computing is Driving New Genetics' Public Policy

In this paper we will examine some ethical aspects of the role that computers and computing increasingly play in new genetics. Our claim is that there is no new genetics without computer science. Computer science is important for the new genetics on two levels: (1) from a theoretical perspective, and (2) from the point of view of geneticists practice. With respect to (1), the new genetics is fully impregnate with concepts that are basic for computer science. Regarding (2), recent developments in the Human Genome Project (HGP) have shown that computers shape the practices of molecular genetics; an important example is the Shotgun Method's contribution to accelerating the mapping of the human genome. A new challenge to the HGP is provided by the Open Source Philosophy (I computer science), which is another way computer technologies now influence the shaping of public policy debates involving genomics.     

The drugs don't work: expectations and the shaping of pharmacogenetics

This article examines one particular set of technologies arising from developments in human genetics, those aimed at improving the targeting, design and use of conventional small molecule drugs-pharmacogenetics. Much of the debate about the applications and consequences of pharmacogenetics has been highly speculative, since little or no working technology is yet on the market. This article provides a novel analysis of the development of pharmacogenetics, and the social and ethical issues it raises, based on the sociology of technological expectations. In particular, it outlines how two alternative visions for the development of the technology are being articulated and embedded in a range of heterogeneous discourses, artefacts, actor strategies and practices, including: competing scientific research agendas, experimental technologies, emerging industrial structures and new ethical discourses. Expectations of how pharmacogenetics might emerge in each of these arenas are actively shaping the trajectory of this nascent technology and its potential socio-economic consequences.     

Flourishing Ethics

This essay describes a new ethical theory that has begun to coalesce from the works of several scholars in the international computer ethics community. I call the new theory ‚Flourishing Ethics’ because of its Aristotelian roots, though it also includes ideas suggestive of Taoism and Buddhism. In spite of its roots in ancient ethical theories, Flourishing Ethics is informed and grounded by recent scientific insights into the nature of living things, human nature and the fundamental nature of the universe – ideas from today’s information theory, astrophysics and genetics. Flourishing Ethics can be divided conveniently into two parts. The first part, which I call ‚Human-Centered FE,’ is focused exclusively upon human beings – their actions, values and characters. The second part, which I call ‚General FE,’ applies to every physical entity in the universe, including humans. Rather than replacing traditional ‚great ethical theories,’ Flourishing Ethics is likely to deepen and broaden our understanding of them.     

Different differences: the use of 'genetic ancestry' versus race in biomedical human genetic research

This article presents findings from our ethnographic research on biomedical scientists' studies of human genetic variation and common complex disease. We examine the socio-material work involved in genome-wide association studies (GWAS) and discuss whether, how, and when notions of race and ethnicity are or are not used. We analyze how researchers produce simultaneously different kinds of populations and population differences. Although many geneticists use race in their analyses, we find some who have invented a statistical genetics method and associated software that they use specifically to avoid using categories of race in their genetic analysis. Their method allows them to operationalize their concept of 'genetic ancestry' without resorting to notions of race and ethnicity. We focus on the construction and implementation of the software's algorithms, and discuss the consequences and implications of the software technology for debates and policies around the use of race in genetics research. We also demonstrate that the production and use of their method involves a dynamic and fluid assemblage of actors in various disciplines responding to disciplinary and sociopolitical contexts and concerns. This assemblage also includes particular discourses on human history and geography as they become entangled with research on genetic markers and disease.We introduce the concept of'genome geography' to analyze how some researchers studying human genetic variation'locate' stretches of DNA in different places and times. The concept of genetic ancestry and the practice of genome geography rely on old discourses, but they also incorporate new technologies, infrastructures, and political and scientific commitments. Some of these new technologies provide opportunities to change some of our institutional and cultural forms and frames around notions of difference and similarity. Nevertheless, we also highlight the slipperiness of genome geography and the tenacity of race and race concepts.     

人胚胎的伦理地位

人胚胎的伦理地位问题争议很大。人胚胎具有将来发育为人的目的性,是人类世代交替的一个必要环节。依据生存目的论人胚胎在很大程度上具有人的伦理地位、尊严和权利。依据效果论,伦理观念应随着科技形势而变化,人类良好的生存发展是胚胎伦理选择的根本。胚胎伦理的两个方面应当统一起来,采取均衡的科研政策。     

发展认知神经科学：理解和促进人类心理发展的新兴学科

理解和促进人类心理发展是科学研究的重要使命。近10余年来,发展心理学与神经科学、遗传学、分子生物学日益交叉融合,衍生了新兴的发展认知神经科学,为理解人类心智的起源、发展变化规律、神经生理和社会心理机制提供了崭新的视角,并为有效促进人类心智的发展带来了前所未有的可能。研究者主要在大脑结构、功能发育与心理行为发展、遗传与环境对个体心理行为发展的交互影响、心理行为发展个体差异的神经机制等方面取得了重要进展。由于发展认知神经科学研究具有重要的科学价值与现实意义,我国应积极主动地把握新学科的发展机遇,结合国家人口素质提升的重大战略需求,从国家科技的宏观布局、以问题为导向的大型联合攻关项目的开展以及理论体系与人才培养体系等多个层面,大力促进发展认知神经科学的发展,使我国这一领域在国际上占据前沿位置,并为满足国家人口战略的重大需求提供坚实的科学与技术基础。     

异种移植技术中的几个问题

简单地说,异种移植是将器官、组织或细胞从一个物种的机体内取出,植入另一物种机体内的技术。异种移植一方面能为得不到同种供体器官的病人带来生的希望,另一方面又存在着给整个人类带来跨物种感染和毁灭性疫病流行的潜在风险。本文对这一近年来充满争议、比较危险的基因工程应用技术的科学上的不确定因素,以及所引发的伦理问题进行分析,尝试着为今后在我国开展异种移植伦理问题的研究做一些初步的问题清理工作。     

Architectures of genetic medicine: comparing genetic testing for breast cancer in the USA and the UK

This paper compares the development of genetic testing for breast cancer (BRCA testing) in the USA and the UK. It argues that national political cultures played an important role in how these genetic testing technologies were shaped, and that the shapes of these technologies had important implications for the users of these systems. In order to demonstrate the roles of national social and political elements in the development of new genetic testing technologies, I introduce the concept of a technology's architecture, which is made up of components and the specific ways in which these components are assembled to fulfill particular functions. In the USA, four very different BRCA testing systems initially emerged. However, one biotechnology company, Myriad Genetics, eventually used its legal and economic position to become the sole provider of testing. It offered BRCA testing the way many other laboratory tests were provided in the USA, available to anyone through any physician. The shape of this testing service had important implications for its participants, defining the client as a consumer who could demand access to any of Myriad's laboratory services, but could not choose among testing systems. In the UK, the government-run National Health Service provided testing through regional genetics clinics, using family history information to assess risk and triage care. Clients in the UK were defined as citizens and patients, who had the right to equal access to the testing system but could not demand any specific services.     

体外人胚胎研究“14天规则”亟待调整：基于科学、伦理、政策的综合视角分析

长期以来,国际科学界在体外人胚胎研究领域所遵循的“14天规则”,将人胚胎体外研究时间限制在受精后的14天内,这是该研究领域最重要的伦理规则。随着胚胎培养技术的发展,这一伦理规则受到前所未有的挑战。2021年,国际干细胞研究学会（ISSCR）在《干细胞研究和临床转化指南》中建议有条件地放宽这一限制,科学界重启关于“14天规则”的讨论。文章以“14天规则”为切入点,系统梳理人胚胎研究伦理规制的历史背景和现实挑战,围绕人胚胎的道德地位、尊严和法律地位等关键伦理问题进行分析,全面分析各界利益相关者的观点和态度,从而结合实际做出评估,明确提出审慎、适当延长“14天规则”的政策建议和具体措施。     

“科学危机”与科学共同体的伦理使命

随着现代化的推进,科学在造福人类的同时,亦给人类带来了种种困境和危机。现代科学的异化所造成的,已经不仅仅是科学自身的危机,而是包括自然、人和社会的全局性危机。科学共同体作为科学发展的主体,其伦理使命在于：以合理的道德诉求规约现代科学的发展,促进科学精神与伦理精神的融合、人——自然——社会的整体和谐以及人类自由的实现,从而超越“科学危机”,实现科学与社会的良性互动。     

“互联网+”环境下民主党派信息平台建设研究

[目的/意义]在"互联网+"环境下，对民主党派信息平台进行科学合理的构建，对新时期我国民主党派发挥参政党作用具有重要的现实意义。[方法/过程]从民主党派参政党特点出发，通过对民主党派信息平台建设的迫切性、存在不足及平台需求性分析，对民主党派信息平台进行了功能模块设计，提出了基于"云平台"的三层总体架构。[结果/结论]优化了民主党派信息平台结构，拓宽了参政议政、民主监督、政治协商的渠道，为民主党派治理能力现代化提供了科学依据。     

共同富裕示范区科创高地建设 关键共性科技伦理风险研判及治理——基于文献综述与案例分析

探讨影响浙江省共同富裕示范区建设的相关主要科技活动的潜在伦理风险。以“互联网+”、生命健康和新材料科学领域代表技术为研究对象,基于Web of Science、PubMed、Scopus、中国知网、万方、维普等数据库筛选出143篇相关中英文文献,梳理、分析和预判有关信息资源公平、生物资源公平、公共安全等问题,揭示其中所隐含的人体安全、隐私保护、受试者尊重等伦理风险;基于此,以浙江省数字一体化建设为例,阐析浙江省政府作为元治理者行使三阶治理职能,为多元主体共治提供基础治理平台、促进多元主体参与一二阶治理的实践措施,如建立自纠自查伦理生态、伦理治理信息化平台等,为研判新兴科技共性伦理风险、探索科技伦理治理新模式提供参考。     

Genomic Research and Data-Mining Technology: Implications for Personal Privacy and Informed Consent

This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology (ICT) and population genomics research. I begin by briefly examining the ethical, legal, and social implications (ELSI) program requirements that were established to guide researchers working on the Human Genome Project (HGP). Next I consider a case illustration involving deCODE Genetics, a privately owned genetic company in Iceland, which raises some ethical concerns that are not clearly addressed in the current ELSI guidelines. The deCODE case also illustrates some ways in which an ICT technique known as data mining has both aided and posed special challenges for researchers working in the field of population genomics. On the one hand, data-mining tools have greatly assisted researchers in mapping the human genome and in identifying certain "disease genes" common in specific populations (which, in turn, has accelerated the process of finding cures for diseases tha affect those populations). On the other hand, this technology has significantly threatened the privacy of research subjects participating in population genomics studies, who may, unwittingly, contribute to the construction of new groups (based on arbitrary and non-obvious patterns and statistical correlations) that put those subjects at risk for discrimination and stigmatization. In the final section of this paper I examine some ways in which the use of data mining in the context of population genomics research poses a critical challenge for the principle of informed consent, which traditionally has played a central role in protecting the privacy interests of research subjects participating in epidemiological studies.     

生物大数据下人体基因信息的保护境遇及应对———以生物样本库为切入点

随着生命科学与信息科学不断地交叠发展，推动了生物大数据时代的到来。生物大数据正在深刻影响着生物医学，俨然已成为增速较快的大数据类型之一，并助推“精准医学”的普及和应用。但是，生物信息数据固然无法脱离生物样本库这一基础性设施而独立存在。并且存储人体基因信息的生物样本库却极具特殊性，源于人体基因信息揭示出了一个人最为敏感、最深层次的个人信息，与个人的生命特征息息相关。因而如果不能对人体基因信息进行周严的保护，必然会引发人的主体性地位的撼动。所以，须从个体、群体、国家三重视角审视当下人体基因信息的不合理披露所带来的风险与危害，并对此采取有效的应对方案，以实现生物样本库的良性运转，增进我国民众的福祉。