Thierry Hurlimann

Guidelines for Disclosing Genetic Information to Family Members: from Development to Use

This paper presents the existing legal frameworks, professional guidelines and other documents related to the conditions and extent of the disclosure of genetic information by physicians to at-risk family members. Although the duty of a physician regarding disclosure of genetic information to a patient’s relatives has only been addressed by few legal cases, courts have found such a duty under some circumstances. Generally, disclosure should not be permitted without the patient’s consent. Yet, due to the nature of genetic information, exceptions are foreseen, where treatment and prevention are available. This duty to warn a patient’s relative is also supported by some professional and policy organizations that have addressed the issue. Practice guidelines with a communication and intervention plan are emerging, providing physicians with tools that allow them to assist patients in their communication with relatives without jeopardizing their professional liability. Since guidelines aim to improve the appropriateness of medical practice and consequently to better serve the interests of patients, it is important to determine to what degree they document the ‘best practice’ standards. Such an analysis is an essential step to evaluate the different approaches permitting the disclosure of genetic information to family members.

An evaluation of pharmacists’ expectations towards pharmacogenomics

BACKGROUND Given their expertise in pharmacotherapy, pharmacists are well positioned to play a leading role in the implementation of pharmacogenomics in clinical practice. However, little is known about the opinions of pharmacists towards pharmacogenomics or their willingness to integrate this new field in their practice. METHODS We conducted a survey of 284 pharmacists practicing in the province of Québec (Canada) to describe the opinions, expectations and concerns of pharmacists toward pharmacogenomics. RESULTS Pharmacists were very hopeful regarding the potential role of pharmacogenomics. Moreover, more than 95% of responders would be willing to recommend pharmacogenomic testing. Nevertheless, only 7.7% of pharmacists currently felt comfortable advising patients based on pharmacogenomic test results. Accordingly, the majority of responders (96.6%) indicated that they would like to undertake continuing education related to pharmacogenomics. CONCLUSION Pharmacists are extremely hopeful towards pharmacogenomic testing. Furthermore, a vast majority is willing to integrate these tests as part of their clinical practice. Proper education will be required if the integration of pharmacogenomics in patient care is to be optimal.

Knowledge Dissemination Interventions: A Literature Review

This literature review seeks to examine knowledge dissemination interventions (KDIs) implemented in health research and gauge their effectiveness on three kinds of outcomes: (a) knowledge acquisition, (b) changes in attitudes, and (c) changes in practice. MEDLINE and Cumulative Index to Nursing and Allied Health Literature databases from 2006 to 2011 were searched. Nineteen articles were retrieved. Most of the KDIs that were evaluated had a positive impact on knowledge acquisition and changes in attitudes, but a limited one on practice. KDIs are diverse in terms of knowledge, actors, contexts, and dissemination methods. They cannot be readily applicable to other projects.

Inclusion and Exclusion in Nutrigenetics Clinical Research: Ethical and Scientific Challenges

Background/Aims: There are compelling reasons to ensure the participation of ethnic minorities and populations of all ages worldwide in nutrigenetics clinical research. If findings in such research are valid for some individuals, groups, or communities, and not for others, then ethical questions of justice – and not only issues of methodology and external validity – arise. This paper aims to examine inclusion in nutrigenetics clinical research and its scientific and ethical challenges. Methods: In total, 173 publications were identified through a systematic review of clinical studies in nutrigenetics published between 1998 and 2007. Data such as participants’ demographics as well as eligibility criteria were extracted. Results: There is no consistency in the way participants’ origins (ancestry, ethnicity, or race) and ages are described in publications. A vast majority of the studies identified was conducted in North America and Europe and focused on ‘white’ participants. Our results show that pregnant women (and fetuses), minors, and the elderly (≧75 years old) remain underrepresented. Conclusion: Representativeness in nutrigenetics research is a challenging ethical and scientific issue. Yet, if nutrigenetics is to benefit whole populations and be used in public and global health agendas, fair representation as well as clear descriptions of participants in publications are crucial.

Is Human Enhancement also a Personal Matter

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.

Nutrigenomics for Global Health: Ethical Challenges for Underserved Populations

Fonds de la recherche en sante du Quebec; Canadian Institutes of Health Research; Institut international de recherche en ethique biomedicale.

Are Research Papers Reporting Results from Nutrigenetics Clinical Research a Potential Source of Biohype

Nutrigenetics is a promising field, but the achievability of expected benefits is challenged by the methodological limitations that are associated with clinical research in that field. The mere existence of these limitations suggests that promises about potential outcomes may be premature. Thus, benefits claimed in scientific journal articles in which these limitations are not acknowledged might stimulate biohype. This article aims to examine whether nutrigenetics clinical research articles are a potential source of biohype. Of the 173 articles identified, 16 contained claims in which clinical applications were extrapolated from study results. The methodological limitations being incompletely acknowledged, these articles could potentially be a source of biohype.

Benefits associated with nutrigenomics research and their reporting in the scientific literature: researchers' perspectives.

Nutrigenomics and nutrigenetics (NGx) are fields of research that have raised significant expectations about their potential benefits. This article presents empirical data from an online survey seeking the opinions of NGx researchers (n = 126) regarding the achievability of the potential benefits of NGx, the time envisioned for their realization, the motives that may lead to their explicit mention in scientific peer-reviewed articles and the audience(s) targeted by NGx researchers when reporting their results in such articles. Results show that caution should be taken to avoid the risks associated with biohype and the premature dissemination of the potential benefits of NGx among various audiences.

The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing

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.

Disclosure of individual pharmacogenomic results in research projects: when and what kind of information to return to research participants

In the growing field of genomics, the utility of returning certain research results to participants has become a highly debated issue. Existing guidelines are not explicit as to the kind of genomic information that should be returned to research participants. Moreover, very few current recommendations and articles in the literature address the return of pharmacogenomic results. Although genetics and pharmacogenomics have many similarities, the circumstances in which disclosure could have a benefit for the participants are different. This review aims to describe the conditions in which disclosure of pharmacogenomic results is appropriate.