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This study investigates changes in the social valuation of the human genome over the more than 30 years since the establishment of the Human Genome Project. It offers a descriptive sociological analysis of the three waves of this valuation, mainly by considering three key UNESCO declarations and a relevant report. These waves represent a shifting balance between collectivism and individualism, starting with a broadly constructed valuation of the human genome as common human heritage and moving toward a valuation of dynamic applications within various social and medical contexts (e.g., personalized genomic medicine and genome editing). We seek to broaden the analytical perspective by examining how the declarations' ethical foci are framed within the context of rapidly evolving genetic technologies and their social applications. We conclude by discussing continuity and change in value balancing vis-à-vis changing genomic technologies., (© 2024. The Author(s).)

Following the completion of the Human Genome Project (HGP) in 2003, advances in DNA sequencing technologies further popularized the field of genomics and brought its social ramifications to the fore. Scholars across disciplines recently voiced serious concerns about the re-emergence of genomic research that might be used to justify racism. In this piece, I trace the history of attempts to biologize the concept of race and its diffused presence in today's genomic research. I then include a brief analysis inspired by concepts from the field of Science and Technology Studies (STS) to suggest selected ways to produce better scientific knowledge. The text highlights historic landmarks of interest to science practitioners curious about the ways science of the past co-shapes science of the present. I then argue that science has never been isolated from the socio-political climate it is produced in; instead, it has been morphed by its surroundings and historically used as a potent tool to justify systemic oppression., (Copyright ©2020, Yale Journal of Biology and Medicine.)

While the major scientific discoveries that would extend the length and health of human lives are not yet here, the research that could create them is already underway. As prospects for a world in which extended and improved lives inches closer into reality, the discourse about what to consider as we move forward grows richer, with corporate executives, ideologues, scientists, theologians, ethicists, investigative journalists, and philosophers taking part in imagining and anticipating the rich array of humanity's possible futures. Drawing from in-depth interviews with key stakeholders (n = 22), we offer empirical insights into key values and beliefs animating the "longevity movement," including what constitutes an ideal human state, the imperative to intervene, and the role of individual liberty and concerns for equality. Emerging from these interviews are common concerns about reducing suffering, preserving diversity in visions of successful aging and how best to promote access to a future that may not remain hypothetical for long., (Copyright © 2019 Elsevier Inc. All rights reserved.)

LeRoy Walters was at the center of public debate about emerging biological technologies, even as "biotechnology" began to take root. He chaired advisory panels on human gene therapy, the human genome project, and patenting DNA for the congressional Office of Technology Assessment. He chaired the subcommittee on Human Gene Therapy for NIH's Recombinant DNA Advisory Committee. He was also a regular advisor to Congress, the executive branch, and academics concerned about policy governing emerging biotechnologies. In large part due to Prof. Walters, the Kennedy Institute of Ethics was one of the primary sources of talent in bioethics, including staff who populated policy and science agencies dealing with reproductive and genetic technologies, such as NIH and OTA. His legacy lies not only in his writings, but in those people, documents, and discussions that guided biotechnology policy in the United States for three decades.

May 21, 2018, marks the tenth anniversary of the signing into law of the Genetic Information Nondiscrimination Act. The Congressional deliberations for GINA were long and difficult. The original bill was introduced in 1995, and for many years, it did not look as if the bill would ever emerge from committee. Several of its provisions raised concerns for insurers, employers, and other stakeholders. After thirteen years, the controversial provisions were either deleted, revised, or clarified. At this ten-year mark, it is appropriate to take stock of GINA. In light of GINA's glacial legislative history, it is reasonable to start thinking about the necessity, wisdom, and feasibility of amending GINA or enacting new legislation to address unresolved or emerging issues of genetic discrimination and trends in genetics, genomics, precision medicine, and related technologies., (© 2018 The Hastings Center.)

Objectives　To clarify the structure, applicability, and objectives of the current Japanese legislation for private information protection and research ethics and to examine the clauses of the related laws/regulations for academic research purposes.Methods　The research design is a descriptive study based on a systematic literature review. Using the "e-Gov" database, the laws/regulations relating to private information protection and research ethics that apply to medical research involving human subjects and human genome/gene analysis research were included in the research. The Drugs Law (Law No. 145 of 1960) and related GCP/GPSP regulations and laws/regulations on administrative organizations, management, and procedures were excluded. Furthermore, the guidelines and Q&A relating to these laws/regulations and all 47 prefectural regulations on private information protection have been selected from the websites of the related ministries, government organizations, and prefectures.Results　Our study demonstrated that the current legal system on private information protection consists of three layers and that the applicability of the laws/regulations in this area varies according to the type of research organization. Additionally, the applicability of the laws/regulations on research ethics is different depending on the research area. While the Private Information Protection Law (PIPL) for the private sector contains two objectives, PIPL for administrative organizations and PIPL for independent administrative organizations both include three objectives. For academic research purposes, PIPL for the private sector sets out a holistic exemption clause, whereas the other two PIPLs stipulate three specific exemption clauses. Furthermore, our research revealed that the clauses of the prefectural regulations demonstrated many variances.Conclusion　This study suggests that the current Japanese legal system relating to private information protection could be defined as a "mixed model," wherein the laws/regulations concerned are not necessarily consistent. The protection of medical information is solely regulated by a few specific laws with a narrow scope of application; the ethical guidelines are not directly based on any laws; and identifying applicable laws/regulations, depending on the category of research organization, is complicated, especially in the case of collaborative research involving researchers from various organizations. Therefore, in the larger framework of legislation, it is indispensable to reconsider the protection of private medical information and its effective use, including the ethics of this process because of the sensitive and useful nature of private medical information.

We review emerging strategies to protect the privacy of research participants in international epigenome research: open consent, genome donation, registered access, automated procedures, and privacy-enhancing technologies., (Copyright © 2016 Elsevier Inc. All rights reserved.)

I joined The Hastings Center this past summer, after graduating from Duke University, where I researched advancements in neuroscience and genomics and their import for law, ethics, and policy. This research required, to an extent, faith in the idea that researchers can identify pathways by which genes combine with epigenetic and environmental factors to affect neuronal activity and influence behaviors. Throughout my first months here, I have puzzled over broad critiques of "genomic hype" in recent literature, which clash with the optimistic rhetoric found in the Human Genome Project and the Precision Medicine Initiative., (© 2016 The Hastings Center.)

Purpose: This review identifies the prominent topics in the literature pertaining to the ethical, legal, and social issues (ELSI) raised by research investigating personalized genomic medicine (PGM)., Methods: The abstracts of 953 articles extracted from scholarly databases and published during a 5-year period (2008-2012) were reviewed. A total of 299 articles met our research criteria and were organized thematically to assess the representation of ELSI issues for stakeholders, health specialties, journals, and empirical studies., Results: ELSI analyses were published in both scientific and ethics journals. Investigational research comprised 45% of the literature reviewed (135 articles) and the remaining 55% (164 articles) comprised normative analyses. Traditional ELSI concerns dominated the discourse including discussions about disclosure of research results. In fact, there was a dramatic increase in the number of articles focused on the disclosure of research results and incidental findings to research participants. Few papers focused on particular disorders, the use of racial categories in research, international communities, or special populations (e.g., adolescents, elderly patients, or ethnic groups)., Conclusion: Considering that strategies in personalized medicine increasingly target individuals' unique health conditions, environments, and ancestries, further analysis is needed on how ELSI scholarship can better serve the increasingly global, interdisciplinary, and diverse PGM research community., (© 2016 John Wiley & Sons Ltd.)

An individual's health, genetic, or environmental-exposure data, placed in an online repository, creates a valuable shared resource that can accelerate biomedical research and even open opportunities for crowd-sourcing discoveries by members of the public. But these data become "immortalized" in ways that may create lasting risk as well as benefit. Once shared on the Internet, the data are difficult or impossible to redact, and identities may be revealed by a process called data linkage, in which online data sets are matched to each other. Reidentification (re-ID), the process of associating an individual's name with data that were considered deidentified, poses risks such as insurance or employment discrimination, social stigma, and breach of the promises often made in informed-consent documents. At the same time, re-ID poses risks to researchers and indeed to the future of science, should re-ID end up undermining the trust and participation of potential research participants. The ethical challenges of online data sharing are heightened as so-called big data becomes an increasingly important research tool and driver of new research structures. Big data is shifting research to include large numbers of researchers and institutions as well as large numbers of participants providing diverse types of data, so the participants' consent relationship is no longer with a person or even a research institution. In addition, consent is further transformed because big data analysis often begins with descriptive inquiry and generation of a hypothesis, and the research questions cannot be clearly defined at the outset and may be unforeseeable over the long term. In this article, we consider how expanded data sharing poses new challenges, illustrated by genomics and the transition to new models of consent. We draw on the experiences of participants in an open data platform-the Personal Genome Project-to allow study participants to contribute their voices to inform ethical consent practices and protocol reviews for big-data research., (© 2015 The Hastings Center.)

Public health policy works best when grounded in firm public health standards of evidence and widely shared social values. In this article, we argue for incorporating a specific method of ethical deliberation--deliberative public bioethics--into public health. We describe how deliberative public bioethics is a method of engagement that can be helpful in public health. Although medical, research, and public health ethics can be considered some of what bioethics addresses, deliberative public bioethics offers both a how and where. Using the Human Genome Project Ethical, Legal, and Social Implications program as an example of effective incorporation of deliberative processes to integrate ethics into public health policy, we examine how deliberative public bioethics can integrate both public health and bioethics perspectives into three areas of public health practice: research, education, and health policy. We then offer recommendations for future collaborations that integrate deliberative methods into public health policy and practice.

The completion of the first draft of the Human Genome Map in 2000 was widely heralded as the promise and future of genetics-based medicines and therapies - so much so that pundits began referring to the new century as 'The Century of Genetics'. Moreover, definitive assertions about the overwhelming similarities of all humans' DNA (99.9 per cent) by the leaders of the Human Genome Project were trumpeted as the end of racial thinking about racial taxonomies of human genetic differences. But the first decade of the new century brought unwelcomed surprises. First, gene therapies turned out to be far more complicated than any had anticipated - and instead the pharmaceutical industry turned to a focus on drugs that might be 'related' to population differences based upon genetic markers. While the language of 'personalized medicine' dominated this frame, research on racially and ethnically designated populations differential responsiveness to drugs dominated the empirical work in the field. Ancestry testing and 'admixture research' would play an important role in a new kind of molecular reification of racial categories. Moreover, the capacity of the super-computer to map differences reverberated into personal identification that would affect both the criminal justice system and forensic science, and generate new levels of concern about personal privacy. Social scientists in general, and sociologists in particular, have been caught short by these developments - relying mainly on assertions that racial categories are socially constructed, regionally and historically contingent, and politically arbitrary. While these assertions are true, the imprimatur of scientific legitimacy has shifted the burden, since now 'admixture research' can claim that its results get at the 'reality' of human differentiation, not the admittedly flawed social constructions of racial categories. Yet what was missing from this framing of the problem: 'admixture research' is itself based upon socially constructed categories of race., (© London School of Economics and Political Science 2015.)

While bioethics as a field has concerned itself with methodological issues since the early years, there has been no systematic examination of how ethics is incorporated into research on the Ethical, Legal and Social Implications (ELSI) of the Human Genome Project. Yet ELSI research may bear a particular burden of investigating and substantiating its methods given public funding, an explicitly cross-disciplinary approach, and the perceived significance of adequate responsiveness to advances in genomics. We undertook a qualitative content analysis of a sample of ELSI publications appearing between 2003 and 2008 with the aim of better understanding the methods, aims, and approaches to ethics that ELSI researchers employ. We found that the aims of ethics within ELSI are largely prescriptive and address multiple groups. We also found that the bioethics methods used in the ELSI literature are both diverse between publications and multiple within publications, but are usually not themselves discussed or employed as suggested by bioethics method proponents. Ethics in ELSI is also sometimes undistinguished from related inquiries (such as social, legal, or political investigations)., (© 2013 John Wiley & Sons Ltd.)

This article analyses some popular cultural representations of biotechnology, especially the artistic work of the Australian artist Patricia Piccinini to reflect on the role of law, technology and ethics in relation to bodily material. Her view that "with creation...comes an obligation to care for the result", so evident in her poignant pictures, is a sober reminder to us of our responsibilities in regulating new technologies.

The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects., (© 2012 Wiley Periodicals, Inc.)

The Human Genome Project has been completed thanks to a massive use of computer techniques, as well as the adoption of the open-source business and research model by the scientists involved. This model won over the proprietary model and allowed a quick propagation and feedback of research results among peers. In this paper, the author will analyse some ethical and legal issues emerging by the use of such computer model in the Human Genome property rights. The author will argue that the Open Source is the best business model, as it is able to balance business and human rights perspectives.

Issues in genetics and genomics have been centre stage in Bioethics for much of its history, and have given rise to both negative and positive imagined futures. Ten years after the completion of the Human Genome Project, it is a good time to assess developments. The promise of whole genome sequencing of individuals requires reflection on personalization, genetic determinism, and privacy., (© 2010 Blackwell Publishing Ltd.)

The Human Genome Project will change how health is defined and how disease is prevented, diagnosed, and treated. As the largest group of health care providers in contact with patients, nurses need to be competent in the science of genetics. Beyond this, nurses need to understand the complexities that arise in genomic health care. Ethical, legal, and social issues are integral to the delivery of genomic health care, and nurses must have an astute understanding of such complexities. What it means to know, to reason, and to act in this postgenomic age is explored.

In this paper I analyse the ethical implications of the two main competing methodologies in genomic research. I do not aim to provide another contribution from the mainstream legal and public policy perspective; rather I offer a novel approach in which I analyse and describe the patent-and-publish regime (the proprietary regime) led by biologist J. Craig Venter and the 'open-source' methodologies led by biotechnology Nobel laureate John Sulston. The 'open-source methodologies' arose in biotechnology as an alternative to the patent-and-publish regime in the wake of the explosion in computer technology. Indeed, the tremendous increase in computer technology has generated a corresponding increase in the pace of genomics research. I conclude this paper by arguing that while the patent-and-publish method is a transactional method based on the exchange of extrinsic goods (patents in exchange for research funds), the free and open-source methodology (FLOSS) is a transformational method based on a visionary ideal of science, which leads to prioritizing intrinsic goods in scientific research over extrinsic goods.

The goal of the Human Genome Diversity Project (HGDP) was to reconstruct the history of human evolution and the historical and geographical distribution of populations with the help of scientific research. Through this kind of research, the entire spectrum of genetic diversity to be found in the human species was to be explored with the hope of generating a better understanding of the history of humankind. An important part of this genome diversity research consists in taking blood and tissue samples from indigenous populations. For various reasons, it has not been possible to execute this project in the planned scope and form to date. Nevertheless, genomic diversity research addresses complex issues which prove to be highly relevant from the perspective of research ethics, transcultural medical ethics, and cultural philosophy. In the article at hand, we discuss these ethical issues as illustrated by the HGDP. This investigation focuses on the confrontation of culturally diverse images of humans and their cosmologies within the framework of genome diversity research and the ethical questions it raises. We argue that in addition to complex questions pertaining to research ethics such as informed consent and autonomy of probands, genome diversity research also has a cultural-philosophical, meta-ethical, and phenomenological dimension which must be taken into account in ethical discourses. Acknowledging this fact, we attempt to show the limits of current guidelines used in international genome diversity studies, following this up by a formulation of theses designed to facilitate an appropriate inquiry and ethical evaluation of intercultural dimensions of genome research.

Unlabelled: Advances in genetics and genomics have quickly led to clinical applications to human health which have far-reaching consequences at the individual and societal levels. These new technologies have allowed a better understanding of the genetic factors involved in a wide range of disorders. During the past decade, incredible progress has been made in the identification of genes involved in the normal process of hearing. The resulting clinical applications have presented consumers with new information and choices. Many of the same gene identification techniques are increasingly being applied to the investigation of complex disorders of speech and language. In parallel with gene identification, studies of the legal, ethical and psychosocial impacts of the clinical application of these advances and their influence on specific behaviors of individuals with communication disorders are paramount, but often lag behind. These studies will help to ensure that new technologies are introduced into clinical practice in a responsible manner., Learning Outcomes: As a result of this activity, the participant will be able to (1) explain the differences between Mendelian and complex forms of inheritance and why these differences complicate the ethical impact of genetic testing, (2) explain how publicly funded genome research through the Human Genome Project, the International HapMap Project and others have examined the ethical, legal and social implications of genome research, (3) list some of the ethical complexities of prenatal, newborn and predictive testing for various genetic disorders and (4) discuss the importance of evidence-based practice to the development of public policy for the introduction and clinical use of genetic tests.

Clinical practice guidelines derived from genetic research using population-based biobanks could dramatically change the nature of personal and public health medicine. Centralized population-based biobanks have been established or proposed in at least nine countries to date, and many lessons have been learned from these landmark developments. Scientific and governmental leaders in the United States are currently contemplating pending federal legislation regarding the establishment of centralized and networked biobanks. Public health practitioners and clinical care providers may be called on to serve pronounced planning roles at the state level. Possible responsibilities include: formulating legislation, gathering public comment, reviewing research proposals, and developing procedures for informed consent, participant withdrawal, and confidentiality protection. State health agencies may also need to create and/or administer banking facilities. Proper planning may ensure that individual rights are protected while research benefits are maximized.

Recent scientific discoveries have made it much easier to test prenatally for various genetic disabilities, such as Down syndrome. However, while many observers have heralded such "advances" for their effectiveness in detecting certain conditions, others have argued that they perpetuate discrimination by preventing the birth of children with disabilities. This article examines the ethical and social implications of the Human Genome Project for individuals with intellectual disabilities and their families. It details the critique of prenatal testing articulated by many disability rights activists as well as scholarly and professional responses to that critique. A review of the pertinent research literature includes perspectives of genetic professionals, ethicists, disability studies scholars, parents of children with disabilities, and disabled individuals themselves. Finally, the article explores how future research endeavors, policies, and practices may more effectively integrate and respect the positions of these various stakeholders., ((c) 2007 Wiley-Liss, Inc.)

Background: The completion of the Human Genome Project, and recent breakthroughs in identifying the genes both directly responsible for and contributing to the severity of specific diseases and disabilities in humans offer great potential for future health care., Aim: The aim of the paper is to inform the health information community of these developments in order to foster debate over their wide-reaching implications., Methods: The article outlines recent research in this area and explains how our growing understanding opens the way for improved diagnosis of disease, detection of possible predisposition to specific diseases, the interaction between genetics and environmental aspects such as diet, as well as enabling gene therapy and preventative actions. This new knowledge also opens the way for the use of pharmacogenetic information to enhance the efficacy of pharmaceuticals and to avoid toxic reactions., Results: These advances have significant social, legal and ethical implications. Most countries have limited legislative control over the use and protection of genetic information about individuals., Conclusion: There is a role for health information professionals to play in promoting wider public knowledge of genetic research and its implications, in fostering public debate on key issues, and in seeking clearer policies in the health sector concerning the use of genetic information about individuals.

As science and technology in genetics continue to expand, complex ethical questions arise that require difficult decisions for all concerned. Rather than having ready-made answers, there may be only more challenging questions for patients, families, and healthcare professionals. These complicated questions may have no straightforward, correct answers, thus creating an ethical quandary. This article discusses some selected ethical issues that occur when patients are considering undergoing genetic testing and counseling, including respecting autonomy and the patient's right to decide, establishing patient-healthcare provider trust, and disclosing private information to others. Several strategies are presented that nurses can use as they assist patients and their families who are facing these challenging ethical dilemmas.

Increasingly scientists and governmental policymakers find themselves leaving their laboratories and office cubicles to share information and decision making with the general public. Contributing in large part to the development of science communication via the mass media has been the Human Genome Project (HGP). Examining the development of the HGP in the United States beginning with the early 1970s helps to establish why and how the general public has become a major player in science policy in the United States during the past quarter century, especially in regard to the ethical, legal, and social implications of research on human genetics. Calling into question the technological imperative--the idea that all things scientific must be pursued without question--the general public came to realize that exerting control over research funding is the key to participating in the scientific process.

The human genome project has had an impact on both biological research and its political organization; this review focuses primarily on the scientific novelty that has emerged from the project but also touches on its political dimensions. The project has generated both anticipated and novel information; in the later category are the description of the unusual distribution of genes, the prevalence of non-protein-coding genes, and the extraordinary evolutionary conservation of some regions of the genome. The applications of the sequence data are just starting to be felt in basic, rather than therapeutic, biomedical research and in the vibrant human origins and variation debates. The political impact of the project is in the unprecedented extent to which directed funding programs have emerged as drivers of basic research and the organization of the multidisciplinary groups that are needed to utilize the human DNA sequence.