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. METHODS: Within the framework of a genomics research project, we invited 20 participants who suffer from refractory epilepsy to provide insight on their personal experiences with epilepsy, as well as their thoughts on receiving Whole Genome Sequencing (WGS) results and with whom they would feel comfortable sharing these results with. RESULTS: All participants had their own unique experience with epilepsy, such as how they handled their diagnosis, their struggles following the diagnosis, the healthcare services they received, how they shared their diagnosis with others, and how they managed stigmatization from others. Most participants would be eager to know their WGS results, whether the results be related to epilepsy (n = 19), response to pharmaceutical drugs including AEDs (n = 16), comorbidities (n = 19) and incidental findings (n = 15). CONCLUSION: Our findings reinforce the need to improve access to genetic testing for epilepsy patients in clinical settings. Furthermore, while acquiring more genetic knowledge (i.e. WGS) about epilepsy can provide answers for the affected population, it also requires the simultaneous involvement of several medical disciplines, with greater emphasis on genetic and psychological counseling.

Assessing the Quality of Direct-to-Consumer Teleconsultation Services in Canada.

The objective of this study was to describe and assess the quality of the direct-to-consumer medical teleconsultation landscape in three Canadian provinces. An environmental scan of primary care teleconsultation platforms was conducted in January 2022 to identify medical teleconsultation platforms in Quebec (Qc), Ontario, and British Columbia (BC). The quality of each teleconsultation platform was assessed using a modified version of the HONcode principles. Nineteen different direct-to-consumer medical teleconsultation platforms were identified across the three provinces. The quality of these teleconsultation platforms was very heterogeneous. The landscape of virtual primary care is changing rapidly in the Canadian ecosystem, and the transparency of current teleconsultation platforms could be improved.

How to navigate the application of ethics norms in global health research: reflections based on qualitative research conducted with people with disabilities in Uganda.

BACKGROUND: As 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 BODY: Our 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. CONCLUSIONS: Conducting 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.

[Ethical issues of Internet use by pregnant women during their medical care]. / Enjeux éthiques du recours à Internet par les femmes enceintes dans leur suivi de grossesse.

INTRODUCTION: Pregnant women are heavy users of Internet and this has an impact on their medical follow-up. The purpose of this study is to highlight the ethical issues related to the use of the Internet by women in their medical care.Methode: Through a systematic literature review conducted on PubMed/Medline, Web of Science, CINAHL and Embase between June and July 2019, 10 670 results were obtained, and 79 articles were included in the post-selection study. A thematic analysis was conducted on these articles. RESULTS: More than 90% of pregnant women use Internet, particularly to find medical information and social support, mainly on pregnancy and childbirth. This research allows them more equitable access to knowledge and develops their empowerment, which modifies the relationship between caregiver and patient, through the acquisition of greater autonomy for women and the development of experiential knowledge. This access offers a central and active role to pregnant women in their medical care. However, many authors also agree on the possible abuses of this use: misinformation, disproportionate information and the presence of judgment that undermine empowerment, but also digital divide and inequity in understanding information, stigmatization of women, and risks of privacy breaches on data acquired online. CONCLUSION: In order to provide pregnant women with the central and active place they seek, the authors recommend involving caregivers in the referral to reliable sites, encouraging them to develop online content, and educating pregnant women in the search for health information on Internet.

[Ethical issues of Internet use by pregnant women during their medical care] / Enjeux éthiques du recours à Internet par les femmes enceintes dans leur suivi de grossesse.

INTRODUCTION: Pregnant women are heavy users of Internet and this has an impact on their medical follow-up. The purpose of this study is to highlight the ethical issues related to the use of the Internet by women in their medical care.Methode: Through a systematic literature review conducted on PubMed/Medline, Web of Science, CINAHL and Embase between June and July 2019, 10 670 results were obtained, and 79 articles were included in the post-selection study. A thematic analysis was conducted on these articles. RESULTS: More than 90% of pregnant women use Internet, particularly to find medical information and social support, mainly on pregnancy and childbirth. This research allows them more equitable access to knowledge and develops their empowerment, which modifies the relationship between caregiver and patient, through the acquisition of greater autonomy for women and the development of experiential knowledge. This access offers a central and active role to pregnant women in their medical care. However, many authors also agree on the possible abuses of this use: misinformation, disproportionate information and the presence of judgment that undermine empowerment, but also digital divide and inequity in understanding information, stigmatization of women, and risks of privacy breaches on data acquired online. CONCLUSION: In order to provide pregnant women with the central and active place they seek, the authors recommend involving caregivers in the referral to reliable sites, encouraging them to develop online content, and educating pregnant women in the search for health information on Internet.

Developing the culture of ethics in population health intervention research in Canada.

Population health intervention research (PHIR) is a particular field of health research that aims to generate knowledge that contributes to the sustainable improvement of population health by enabling the implementation of cross-sectoral solutions adapted to social realities. Despite the ethical issues that necessarily raise its social agenda, the ethics of PHIR is still not very formalized. Unresolved ethical challenges may limit its focus on health equity. This contribution aims to highlight some of these issues and calls on researchers to develop a culture of ethics in PHIR. Three complementary ways are proposed: to build an ethical concept specific to this field, to promote a shared space for critical reflection on PHIR ethics, and to develop the ethical competence in PHIR for which a preliminary framework is proposed.

Enjeux éthiques du recours à Internet par les femmes enceintes dans leur suivi de grossesse.

INTRODUCTION: Pregnant women are heavy users of Internet and this has an impact on their medical follow-up. The purpose of this study is to highlight the ethical issues related to the use of the Internet by women in their medical care. METHODE: Through a systematic literature review conducted on PubMed/Medline, Web of Science, CINAHL and Embase between June and July 2019, 10 670 results were obtained, and 79 articles were included in the post-selection study. A thematic analysis was conducted on these articles. RESULTS: More than 90% of pregnant women use Internet, particularly to find medical information and social support, mainly on pregnancy and childbirth. This research allows them more equitable access to knowledge and develops their empowerment, which modifies the relationship between caregiver and patient, through the acquisition of greater autonomy for women and the development of experiential knowledge. This access offers a central and active role to pregnant women in their medical care. However, many authors also agree on the possible abuses of this use: misinformation, disproportionate information and the presence of judgment that undermine empowerment, but also digital divide and inequity in understanding information, stigmatization of women, and risks of privacy breaches on data acquired online. CONCLUSION: In order to provide pregnant women with the central and active place they seek, the authors recommend involving caregivers in the referral to reliable sites, encouraging them to develop online content, and educating pregnant women in the search for health information on Internet.

Framework for ethical international academic partnerships in family medicine: The Besrour Papers: a series on the state of family medicine in Canada and Brazil.

OBJECTIVE: To develop an ethical framework for collaboration in international academic partnerships in family medicine. COMPOSITION OF THE COMMITTEE: A subgroup of the Besrour Centre of the College of Family Physicians of Canada including family medicine and bioethics experts began to collaborate in 2014 to undertake the development of an ethical framework and tools for the establishment of ethically sound international academic partnerships. METHODS: Following 2 consultative workshops and a wider consultation process with the Besrour Centre global community, the authors developed an ethical framework and tools for approval by the Besrour Centre leadership in November 2017. REPORT: Partnerships are essential to family practice and to the field of international development. The flawed nature of many North-South research partnerships underlines the importance of and need for delineating core principles for ethically sound partnerships, of which 10 have been identified in this process: accountability, cost and efficiencies, excellence, equity, humility, justice, leadership, reciprocity, respect for self-determination, and transparency. Based on these principles, a decision-making framework was created to translate these values into actions and to promote a cohesive and transparent structure for discussions. Fostering fairness, transparency, and consistency in decision making reduces the potential for inequity in a partnership, leading to lasting relationships that endure beyond the scope of a partnership agreement.

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. A descriptive analysis of responses and comments was conducted regarding parents' experience with their child's epilepsy, as well as their views on WGS, and expectations and concerns surrounding such test results. RESULTS: Most respondents had trouble explaining the medical causes of their child's epilepsy (n = 27), and a majority (n = 26) feared that their child may be treated unjustly because of their epilepsy, although some acknowledged that their child had never actually been treated unjustly (n = 13). A majority of respondents had also experienced feelings of guilt due to their child's epilepsy (n = 23), and some expected WGS results to have an impact on those feelings. The anticipation of benefits for their child was the parents' primary reason to get involved in a genomic research project, closely followed by altruism. A majority expressed strong intentions to receive as many WGS results as possible, considering that any could be beneficial for them and their child, even when mutations were not found. Respondents were divided as to how and when to tell their child that they might have newly discovered predispositions to develop another disease. In proportion, more parents expressed concerns about sharing unexpected results with their family members compared with sharing results linked to epilepsy, comorbidities, and pharmacoresistance. CONCLUSION: Our results reinforce the importance of having clear guidelines to help parents manage their expectations and better navigate the complexities of receiving and sharing WGS results. Despite the small size of our sample, we believe that our results are meaningful to clinical practice.

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. METHODS: Potential participants were contacted through professional organizations or direct invitations. RESULTS: 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 (69%), 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 (75%) for as long as they are following up on the patient (55%). Finally, 53.5% of the respondents felt responsible to recontact and inform patients of clinically significant, newly discovered IFs. CONCLUSION: 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.

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.0186897.].

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.) contexts. AIM: The goal of this scoping review is to delineate and "map" the range of ethical issues in nutrition-related public health interventions, as well as the range of the various fields in which they may arise. METHODS: A scoping review of empirical research and conceptual literature was conducted following the framework of Arksey and O'Malley. Searches using PubMed with Medical Subject Headings (MeSH) categories and Advanced Search Builder as well as in the Global Health Library were performed. The final sample consists of 169 publications. RESULTS: The ethics of public health prevention or treatment of obesity and non-communicable diseases is the most explicitly and frequently discussed subject. In comparison, ethical issues raised by public health interventions in the fields of undernutrition, breastfeeding, vitamin/mineral supplementation and food fortification, food security, food sustainability and food safety are addressed in a lower proportion of the sample. The results illustrate the various natures, types, and scopes of existing public health nutrition-related interventions, and the various ethical issues that may be raised by these interventions, in addition to the numerous and different contexts in which they may be implemented. DISCUSSION: The ethical issues faced in the development and implementation of nutrition-related public health interventions are varied and cannot be equated with, nor generalized about, when dealing with specific activities in this field. More importantly, these ethical issues cannot be managed without a careful consideration for the complexity of contexts in which nutrition-related interventions are expected to be implemented. These interventions engage a variety of actors with diverse perspectives and interests. We discuss these challenges and also comment on the importance of considering ethical impacts in the monitoring and evaluation of such interventions. CONCLUSION: General ethical frameworks or recommendations-although useful-cannot be expected to provide policy makers, implementators and other public health personnel with sufficient practical ethical guidance as they cannot consider and anticipate the particularities of all specific nutrition-related public health interventions and the complexity of the contexts in which they are implemented. Further research is needed in order to develop more targeted ethical frameworks.

L'euthanasie de convenance des animaux de compagnie : portrait du dilemme au sein de la profession vétérinaire québécoise.

Convenience euthanasia in companion animals: Dilemma among veterinarians in Quebec. Many veterinarians working in the field of companion animal medicine have to deal with requests for convenience euthanasia in their practices. As it is the case in other medical fields, veterinarians are trained to treat their patients. It is thus easy to understand that veterinarians consider convenience euthanasia as one of the most difficult ethical dilemmas they have to deal with in their practice. Regulatory boundaries concerning the practice of euthanasia are limited to the method use to induce the death of the animal but do not give any indication as to what should be the proper circumstances surrounding the request. To date, there are few articles on this matter and the perspective of veterinarians on the subject was rarely addressed. This article reports results obtained following a study conducted upon Québec's veterinarians on the topic of convenience euthanasia. The data was obtained via an online survey created by the research team to evaluate the perspective of veterinarians on the topic, how they perceived consequences of convenience euthanasia and what were the solutions they would take into consideration in order to help the profession on resolving their dilemma. The data collected sheds light on the existing duality between double allegiance regarding the duties emerging from the relation with the patient (animal) and the client (pet owner) veterinarian are facing in their daily practice. On one hand veterinarians recognized that 'convenience euthanasia' is contrary to animal welfare. On the other hand they also recognized the pet owner's right to ask for 'convenience euthanasia' when he can no longer care for its pet.(Translated by Dr. Rathwell-Deault).

Expected consequences of convenience euthanasia perceived by veterinarians in Quebec.

In companion animal practice, convenience euthanasia (euthanasia of a physically and psychologically healthy animal) is recognized as one of the most difficult situations. There is little published on veterinary perceptions of the consequences of convenience euthanasia. A qualitative study on the subject based on interviews with 14 veterinarians was undertaken. The animal's interests in the dilemma of convenience euthanasia was taken into consideration, strictly from the point of view of the physical suffering and stress related to the procedure. The veterinarian's goal was to respect the animal's interests by controlling physical pain. Most often, veterinarians made their own interests and those of the owners a priority when considering the consequences of their decision to perform or refuse convenience euthanasia.

Conséquences attendues de l'euthanasie de commodité selon les perceptions des médecins vétérinaires au Québec. En pratique des animaux de compagnie, l'euthanasie de commodité (l'euthanasie d'un animal en bonne santé physique et psychologique) est reconnue comme l'une des situations les plus difficiles. Il y a eu peu de travaux publiés sur les perceptions vétérinaires des conséquences de l'euthanasie de commodité. Une étude qualitative sur le sujet basée sur des entrevues auprès de 14 médecins vétérinaires a été entreprise. Les intérêts de l'animal dans le dilemme de l'euthanasie de commodité ont été pris en considération, strictement du point de vue des souffrances physiques et du stress lié à l'intervention. Le but du médecin vétérinaire consistait à respecter les intérêts de l'animal en contrôlant la douleur physique. Le plus souvent, les médecins vétérinaires jugeaient leurs propres intérêts et ceux des propriétaires comme étant prioritaires lors de la considération des conséquences de leur décision de réaliser ou de refuser l'euthanasie de commodité.(Traduit par Isabelle Vallières).

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. Almost half of the 204 neurologists in the study treated mostly adult patients (48%), while the rest mainly children (37.3%), or both (14.7%). Epilepsy (73%) and headaches (57.8%) were the predominant conditions treated. Factor analysis brought out two profiles: neurologists who would offer WGS to their patients, and those who would not, or were not sure in which circumstances it should be offered. Neurologists considering the use of WGS as bringing more benefits than drawbacks currently used targeted genetic testing (P<0.05) or treated mainly children (P<0.05). WGS' benefits were directed towards the patients, while its risks were of a financial and legal nature. Furthermore, there was a correlation between respondents' current use of genetic tests and an anticipation of increased use in the future (P<0.001). However, over half of respondents did not feel sufficiently informed to use WGS in their practice (53.5%). Our results highlight gaps in education, organization, and funding to support the use of WGS in neurology, and draw attention to the need for resources that could strongly contribute to more straightforward diagnoses and possibly better treatment of neurological conditions.

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.

Conceptualization of convenience euthanasia as an ethical dilemma for veterinarians in Quebec.

Companion animal welfare in our society has become increasingly important, yet many healthy animals are euthanized in veterinary facilities. How is it possible to explain the simultaneous presence of these opposing views of obligation toward animals? The goal of this study was to describe convenience euthanasia of companion animals as experienced by veterinarians in order to understand their thought processes. A qualitative study was undertaken to analyze the results of interviews of 14 veterinarians. The study showed that veterinarians interviewed assessed convenience euthanasia based mainly on their subjective evaluation of the owner-animal bond. As most owner-animal bonds stem from an anthropocentric point of view, decisions on convenience euthanasia were taken mostly by considering the veterinarian's and the client/owner's interests.

Conceptualisation de l'euthanasie pour des raisons de commodité comme dilemme éthique pour les vétérinaires du Québec. Le respect du bien-être des animaux de compagnie dans notre société est devenu de plus en plus important. Fait paradoxal, beaucoup d'animaux en santé sont euthanasiés dans les établissements vétérinaires. Comment peut-on expliquer la présence concomitante de ces vues opposées à l'égard des obligations envers les animaux? Le but de cette étude consistait à décrire l'euthanasie des animaux de compagnie pour des raisons de commodité selon les expériences des vétérinaires afin de comprendre leurs processus de réflexion. Une étude qualitative a été entreprise afin d'analyser les résultats d'entrevues avec 14 médecins vétérinaires. L'étude a signalé que les vétérinaires interviewés évaluaient l'euthanasie pour des raisons de commodité surtout en se basant sur leur évaluation subjective du lien entre le propriétaire et l'animal. Comme la majorité des liens entre propriétaires et animaux découlent d'un point de vue anthropocentrique, les décisions pour l'euthanasie pour des raisons de commodité étaient prises surtout en considérant l'intérêt du médecin vétérinaire et du client/propriétaire.(Traduit par Isabelle Vallières).

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. In addition, NGx testing is developed within an evolving landscape of new genomic technologies and occurs at a time when public health policies mainly focus on preventive and predictive healthcare, with an emphasis on increased individual responsibility. The ethical issues raised by such a context and the genetic nature of NGx testing both should be carefully evaluated.

[Health care research within international normative frameworks and the literature : assessment, stakes and recommendations]. / Chapitre 8. La recherche en santé dans les cadres normatifs internationaux et la littérature : état des lieux, enjeux et recommandations.

Research in health occupies a central place in the elaboration of public policies and the interventions that aim to reduce inequality and make the right to health effective. However, research in health remains marked by inequalities which particularly affect developing countries. The objective of this critical recension of the international normative frameworks and the scientific literature is to present a summary of the assessment, underline the challenges and identify the main recommendations as well as the ethical principles that aim to reduce inequalities in the field of health research. The normative frameworks included in this recension have been adopted by the United Nations Organisation through its agencies specialised in the field of health and scientific research. Particular attention has also been given to the scientific literature concerned with the inequalities in health research. The results of this recension show us that inequalities in health research can be an impediment to the equitable distribution of healthcare services and to human development. With regard to this, these inequalities raise concerns about justice and equity for research institutions, researchers and communities in developing countries. The recommendations and ethical principles analysed here are therefore designed to reduce them and to promote access for developing countries to research and the consequent benefits. Finally, this recension emphasises the need to undertake research to understand the role of research practices in countries of the South in the emergence and persistence of these inequalities.