Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing.

Introduction: Researchers, clinicians and patients are turning to new innovations in research and clinical practice to further their knowledge in the genetic domain and improve diagnostics or treatment. However, with increased knowledge in genetics, societal issues may arise. Being conscious of these issues is crucial in order to implement standardized and efficient testing on a wider scale that is accessible to a greater number of individuals while simultaneously returning test results, including incidental findings, in a timely manner.

Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists.

To evaluate the current opinion, experience and educational preferences of pharmacists in Quebec concerning pharmacogenomics. A web-based survey containing 25 questions was sent to all Quebec pharmacists. Most pharmacists were willing to advise patients (81%) and physicians (84%) on treatment choices based on pharmacogenomic test results after proper training.

Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing.

Purpose: The use of Next Generation Sequencing technologies (NGS), such as Whole Genome Sequencing (WGS), is expected to improve the often complex and protracted course of treatment of patients with epilepsy by providing an earlier and more accurate diagnosis. As part of the "Personalized medicine in the treatment of epilepsy" project, which aimed to determine whether WGS could be used as a valuable "diagnostic tool" in pharmacoresistant epilepsies, we examined parents' expectations, hopes, and concerns upon receiving results related to their child's epilepsy, comorbidities, resistance to medication, and genetic information on unrelated conditions, and how these results could impact their and their child's life.

Methods: Parents of 32 children participating in the genetic study completed either paper or online questionnaires.

Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

Background: The use of Next Generation Sequencing such as Whole Genome Sequencing (WGS) is a promising step towards a better understanding and treatment of neurological diseases. WGS can result into unexpected information (incidental findings, IFs), 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.

Correction: Ethical issues in the development and implementation of nutrition-related public health policies and interventions: A scoping review.

[This corrects the article DOI: 10.1371/journal.pone.

Ethical issues in the development and implementation of nutrition-related public health policies and interventions: A scoping review.

Background: The limited integration of ethics in nutrition-related public health policies and interventions is one major concern for those who have the task of implementing them. Ethical challenges that are overlooked during the development of such interventions could raise serious ethical issues during their implementation and even after. As a result, these decision makers need technical support and ethical guidance for adaptation of interventions to local (cultural, social, economic, etc.

Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.

The use of Whole-Genome Sequencing (WGS) in clinical settings has brought up a number of controversial scientific and ethical issues. The application of WGS is of particular relevance in neurology, as many conditions are difficult to diagnose. We conducted a worldwide, web-based survey to explore neurologists' views on the benefits of, and concerns regarding, the clinical use of WGS, as well as the resources necessary to implement it.

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.

Ethical considerations in the implementation of nutrigenetics/nutrigenomics.

Awareness of ethical issues that may be raised by the implementation of nutrigenetic/nutrigenomic (NGx) testing and personalized nutrition, at an individual or a public health level, is crucial to ensure the latter's sound and effective implementation. NGx tests that are currently offered or developed have different natures and scopes. We provide an example of NGx testing on the MTHFR gene to illustrate the current challenges when it comes to grasp the meaning of the results of such testing.

Evaluation of a cartoon-based knowledge dissemination intervention on scientific and ethical challenges raised by nutrigenomics/nutrigenetics research.

Context: The push for knowledge translation on the part of health research funding agencies is significant in Canada, and many strategies have been adopted to promote the conversion of knowledge into action. In recent years, an increasing number of health researchers have been studying arts-based interventions to transform knowledge into action. This article reports on the results of an online questionnaire aimed at evaluating the effectiveness of a knowledge dissemination intervention (KDI) conveying findings from a study on the scientific and ethical challenges raised by nutrigenomics-nutrigenetics (NGx) research.

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.

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.

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.

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.