Beatrice Godard

Emerging technologies are increasingly used in an attempt to “enhance the human body and/or mind” beyond the contemporary standards that characterize human beings. Yet, such standards are deeply controversial and it is not an easy task to determine whether the application of a given technology to an individual and its outcome can be defined as a human enhancement or not. Despite much debate on its potential or actual ethical and social impacts, human enhancement is not subject to any consensual definition. This paper proposes a timely and much needed examination of the various definitions found in the literature. We classify these definitions into four main categories: the implicit approach, the therapy-enhancement distinction, the improvement of general human capacities and the increase of well-being. After commenting on these different approaches and their limitations, we propose a definition of human enhancement that focuses on individual perceptions. While acknowledging that a definition that mainly depends on personal and subjective individual perceptions raises many challenges, we suggest that a comprehensive approach to define human enhancement could constitute a useful premise to appropriately address the complexity of the ethical and social issues it generates

Background Next Generation Sequencing (NGS) is expected to help find the elusive, causative genetic defects associated with Bipolar Disorder (BD). This article identifies the importance of NGS and further analyses the social and ethical implications of this approach when used in research projects studying BD, as well as other psychiatric ailments, with a view to ensuring the protection of research participants. Methods We performed a systematic review of studies through PubMed, followed by a manual search through the titles and abstracts of original articles, including the reviews, commentaries and letters published in the last five years and dealing with the ethical and social issues raised by NGS technologies and genomics studies of mental disorders, especially BD. A total of 217 studies contributed to identify the themes discussed herein. Results The amount of information generated by NGS renders individuals suffering from BD particularly vulnerable, and increases the need for educational support throughout the consent process, and, subsequently, of genetic counselling, when communicating individual research results and incidental findings to them. Our results highlight the importance and difficulty of respecting participants’ autonomy while avoiding any therapeutic misconception. We also analysed the need for specific regulations on the use and communication of incidental findings, as well as the increasing influence of NGS in health care. Conclusions Shared efforts on the part of researchers and their institutions, Research Ethics Boards as well as participants’ representatives are needed to delineate a tailored consent process so as to better protect research participants. However, health care professionals involved in BD care and treatment need to first determine the scientific validity and clinical utility of NGS-generated findings, and thereafter their prevention and treatment significance.

Large-scale genetic databases are being developed in several countries around the world. However, these databases depend on public participation and acquiescence. In the past, information campaigns have been waged and little attention has been paid to dialogue. Nowadays, it is important to include the public in the development of scientific research and to encourage a free, open and useful dialogue among those involved. This paper is a review of community consultation strategies as part of four proposed large-scale genetic databases in Iceland, Estonia, United Kingdom and Quebec. The Iceland Health Sector Database and Estonian Genome Project have followed a “communication approach” in order to address public concerns, whereas, UK Biobank and Quebec CARTaGENE have chosen a “partnership approach” to involve the public in decision-making processes.

In order to ensure an adequate and ongoing protection of individuals participating in scientific research, the impacts of new biomedical technologies, such as Next Generation Sequencing , need to be assessed. In this light, a necessary reexamination of the ethical and legal structures framing research could lead to requisite changes in informed consent modalities. This would have implications for Institutional Review Boards , who bear the responsibility of guaranteeing that participants are verifiably informed, and in sufficient detail, to understand the reality of genetic research as it is practiced now. Current literature allowed the identification of key emergent themes related to the consent process when NGS was used in a research setting

The anticipation of ethical issues that may arise with the clinical use of genomic technologies is crucial to envision their future implementation in a manner sensitive to local contexts. Yet, populations in low- and middle-income countries are underrepresented in studies that aim to explore stakeholders’ perspectives on the use of such technologies. Within the framework of a research project entitled “Personalized medicine in the treatment of epilepsy”, we sought to increase inclusiveness by widening the reach of our survey, inviting neurologists from around the world to share their views and practices regarding the use of whole-genome sequencing in clinical neurology and its associated ethics. We discuss herein the compelling scientific and ethical reasons that led us to attempt to recruit neurologists worldwide, despite the lack, in many low- or middle-income countries, of access to genomic technologies. Recruitment procedures and their results are presented and discussed, as well as the barriers we faced. We conclude that inclusive recruitment remains a challenging, albeit necessary and legitimate, endeavour.

The use of Next Generation Sequencing such as Whole Genome Sequencing is a promising step towards a better understanding and treatment of neurological diseases. WGS can result into unexpected information, and information with uncertain clinical significance. In the context of a Genome Canada project on ‘Personalized Medicine in the Treatment of Epilepsy’, we intended to address these challenges surveying neurologists’ opinions about the type of results that should be returned, and their professional responsibility toward recontacting patients regarding new discovered mutations. Potential participants were contacted through professional organizations or direct invitations. A total of 204 neurologists were recruited. Fifty nine percent indicated that to be conveyed, WGS results should have a demonstrated clinical utility for diagnosis, prognosis or treatment. Yet, 41% deemed appropriate to return results without clinical utility, when they could impact patients’ reproductive decisions, or on patients’ request. Current use of targeted genetic testing and age of patients influenced respondents’ answers. Respondents stated that analysis of genomics data resulting from WGS should be limited to the genes likely to be relevant for the patient’s specific medical condition, so as to limit IFs. Respondents felt responsible to recontact patients and inform them about newly discovered mutations related to the medical condition that triggered the test for as long as they are following up on the patient. Finally, 53.5% of the respondents felt responsible to recontact and inform patients of clinically significant, newly discovered IFs. Our results show the importance of formulating professional guidelines sensitive to the various – and sometimes opposite – viewpoints that may prevail within a same community of practice, as well as flexible so as to be attuned to the characteristics of the neurological conditions that triggered a WGS.

BackgroundAs Canadian global health researchers who conducted a qualitative study with adults with and without disabilities in Uganda, we obtained ethics approval from four institutional research ethics boards (two in Canada and two in Uganda). In Canada, research ethics boards and researchers follow the research ethics norms of the Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (TCPS2), and the National Guidelines for Research Involving Humans as Research Participants of Uganda (NGRU) in Uganda. The preparation and implementation of this qualitative research raised specific ethical issues related to research participant privacy and the importance of availability and management of financial resources.Main bodyOur field experience highlights three main issues for reflection. First, we demonstrate that, in a global health research context, methodological and logistic adjustments were necessary throughout the research implementation process to ensure the protection of study participants’ privacy, especially that of people with disabilities, despite having followed the prescribed Canadian and Ugandan ethics norms. Data collection and management plans were adapted iteratively based on local realities. Second, securing financial support as a key aspect of financial management was critical to ensure privacy through disability-sensitive data collection strategies. Without adequate funding, the recruitment of research participants based on disability type, sex, and region or the hiring of local sign language interpreters would not have been possible. Third, although the TCPS2 and NGRU underscore the significance of participants’ privacy, none of these normative documents clearly express this issue in the context of global health research and disability, nor broadly discuss the ethical issue related to financial availability and management.ConclusionsConducting research in resource limited settings and with study participants with different needs calls for a nuanced and respectful implementation of research ethics in a global health context. We recommend a greater integration in both the TCPS2 and NGRU of global health research, disability, and responsible conduct of research. This integration should also be accompanied by adequate training which can further guide researchers, be they senior, junior, or students, and funding agencies.

A recent Organisation for Economic Co-Operation and Development survey demonstrated that an internationalization of genetic laboratory services currently emerged from the rarity of certain genetic abnormalities and from the small of laboratories performing specialized testing. When DNA samples cross national boundaries for genetic testing services to be performed in another country, the heterogeneity of national legal frameworks raises important questions regarding quality of genetic services available internationally.Some aspects of the genetic laboratories’ services are abundantly discussed by the literature, among which most prominent are quality control standards and patients rights. Firstly, a 2003 study identified key distinctions between the different legal frameworks for genetic services. While some countries impose exhaustive regulatory requirements, others favor guidelines for good practices. Moreover, proficiency assessment, clinical validity, retention of laboratory records and test reports are not dealt with uniformly.

Recent advances in our understanding of the human genome have raised high hopes for the creation of personalized medicine able to predict diseases well before they occur, or that will lead to individualized and therefore more effective treatments. This possibility of a more accurate science of the prevention and surveillance of disease also illuminates the field of public health, where the translation of genomic knowledge could provide tools enhancing the capacity of public health authorities to promote health and prevent diseases. But beyond scientific considerations, the use of genomics in public health research and interventions gives rise to several ethical and social issues of great importance. Considering the impact that PHG could have on the future of public health while still paying attention to the uncertainty surrounding the use of genomic databases for the benefit of populations, this article seeks to explore the promise of genomics in public health and the ethical issues that emerge from its application.