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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.
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Personas con Discapacidad , Salud Global , Canadá , Humanos , Investigación Cualitativa , UgandaRESUMEN
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.
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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.
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Internet/ética , Internet/estadística & datos numéricos , Mujeres Embarazadas/psicología , Información de Salud al Consumidor/normas , Femenino , Humanos , Conducta en la Búsqueda de Información , Educación del Paciente como Asunto , Embarazo , Relaciones Profesional-Paciente , Apoyo SocialRESUMEN
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.
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Internet/ética , Internet/estadística & datos numéricos , Mujeres Embarazadas/psicología , Información de Salud al Consumidor/normas , Femenino , Humanos , Conducta en la Búsqueda de Información , Educación del Paciente como Asunto , Embarazo , Relaciones Profesional-Paciente , Apoyo SocialRESUMEN
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 (nâ¯=â¯27), and a majority (nâ¯=â¯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 (nâ¯=â¯13). A majority of respondents had also experienced feelings of guilt due to their child's epilepsy (nâ¯=â¯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.
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Epilepsia/genética , Epilepsia/psicología , Motivación , Padres/psicología , Medicina de Precisión/psicología , Secuenciación Completa del Genoma , Adolescente , Adulto , Niño , Preescolar , Epilepsia/diagnóstico , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Motivación/fisiología , Medicina de Precisión/métodos , Encuestas y Cuestionarios , Secuenciación Completa del Genoma/métodosRESUMEN
Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members. Central to our approach is the family unit which serves as a reference to identify causal genotype-phenotype correlations. Screening a multitude of 10 overlapping phenotypes revealed disease associated and co-segregating variants in 12 families. These rare or novel protein altering mutations cluster predominantly in genes (NOTCH1, ARHGAP31, MAML1, SMARCA4, JARID2, JAG1) along the Notch signaling cascade. This is in line with a significant enrichment (Wilcoxon, p< 0.05) of variants with a higher pathogenicity in the Notch signaling pathway in patients compared to controls. The significant enrichment of novel protein truncating and missense mutations in NOTCH1 highlights the allelic and phenotypic heterogeneity in our pediatric cohort. We identified novel co-segregating pathogenic mutations in NOTCH1 associated with left and right-sided cardiac malformations in three independent families with a total of 15 affected individuals. In summary, our results suggest that a small but highly pathogenic fraction of family specific mutations along the Notch cascade are a common cause of LVOTO.
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Constricción Patológica/genética , Cardiopatías Congénitas/genética , Receptor Notch1/genética , Obstrucción del Flujo Ventricular Externo/genética , Válvula Aórtica/fisiopatología , Codón sin Sentido , Constricción Patológica/fisiopatología , Exoma/genética , Femenino , Estudios de Asociación Genética , Ligamiento Genético , Genoma Humano , Cardiopatías Congénitas/fisiopatología , Humanos , Masculino , Linaje , Receptores Notch/genética , Eliminación de Secuencia , Transducción de Señal/genética , Obstrucción del Flujo Ventricular Externo/fisiopatologíaRESUMEN
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.
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Toma de Decisiones/ética , Medicina Familiar y Comunitaria , Cooperación Internacional , Universidades , Brasil , Canadá , Salud Global , Humanos , Relaciones Interinstitucionales , Liderazgo , Responsabilidad SocialRESUMEN
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.
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Revelación/ética , Secuenciación de Nucleótidos de Alto Rendimiento/ética , Neurología/ética , Guías de Práctica Clínica como Asunto , Adulto , Canadá , Niño , Revelación/normas , Femenino , Genoma Humano , Humanos , Masculino , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/genética , Neurología/estadística & datos numéricos , Responsabilidad Social , Encuestas y CuestionariosRESUMEN
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.
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Actitud del Personal de Salud , Países en Desarrollo , Investigación Genética/ética , Genómica , Neurólogos , Análisis de Secuencia de ADN , Justicia Social , Discusiones Bioéticas , Tecnología Biomédica , Atención a la Salud , Epilepsia/genética , Ética en Investigación , Humanos , Medicina de Precisión/ética , Encuestas y CuestionariosRESUMEN
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).
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Bienestar del Animal , Eutanasia Animal , Veterinarios/psicología , Animales , Ética , Percepción , QuebecRESUMEN
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).
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Eutanasia Animal/ética , Mascotas , Veterinarios/ética , Veterinarios/psicología , Animales , Vínculo Humano-Animal , Humanos , QuebecRESUMEN
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).
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Bienestar del Animal , Ética Profesional , Eutanasia Animal/ética , Mascotas , Veterinarios/psicología , Animales , Femenino , Humanos , Masculino , QuebecRESUMEN
The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.
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Ética , Asesoramiento Genético , Consentimiento Informado , Análisis de Secuencia/métodos , HumanosRESUMEN
BACKGROUND: 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 (NGS), 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 (IRBs), 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. METHODS: We examined the subjects of secondary use, sharing of materials and data, and recontacting participants as outlined in the Canadian Informed Consent templates and the accompanying IRB instructions for the conduct of genetic research. The research ethics policy applied by the three Canadian research agencies (Tri-Council Policy Statement, 2nd Edition) was used to frame our content analysis. We also obtained IRB-approved consent forms for genetic research projects on brain and mental health disorders as an example of a setting where participants might present higher-than-average vulnerability. RESULTS: Eighty percent of documents addressed different modalities for the secondary use of material and/or data, although the message was not conveyed in a systematic way. Information on the sharing of genetic sequencing data in a manner completely independent of the material from which it originated was absent. Grounds for recontacting participants were limited, and mainly mentioned to obtain consent for secondary use. A feature of the IRB-approved consent documents for genetic studies on brain and mental health disorders using NGS technologies, offered a complete explanation on sharing material and data and the use of databases. CONCLUSIONS: The results of our work show that in Canada, many NGS research needs are already dealt with. Our analysis led us to propose the addition of well-defined categories for future use, adding options on the sharing of genetic data, and widening the grounds on which research participants could consent to be recontacted.
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Deber de Recontacto/ética , Investigación Genética/ética , Difusión de la Información/ética , Consentimiento Informado/ética , Sujetos de Investigación , Poblaciones Vulnerables , Encefalopatías/genética , Canadá , Formularios de Consentimiento/ética , Formularios de Consentimiento/normas , Comités de Ética en Investigación/ética , Comités de Ética en Investigación/normas , Comités de Ética en Investigación/tendencias , Ética en Investigación , Secuenciación de Nucleótidos de Alto Rendimiento/ética , Humanos , Trastornos Mentales/genéticaRESUMEN
The use of next generation sequencing (NGS) technologies in psychiatric genetics research and its potential to generate individual research results will likely have far reaching implications for predictive and diagnostic practices. The extent of this impact may not be easily understood by psychiatric research participants during the consent process. The traditional consent process for studies involving human subjects does not address critical issues specific to NGS research, such as the return of results. We examined which type of research findings should be communicated, how this information should be conveyed during the consent process and what guidance is required by researchers and IRBs to help psychiatric research participants understand the peculiarities, the limits and the impact of NGS. Strong standards are needed to ensure appropriate use of data generated by NGS, to meet participants' expectations and needs, and to clarify researchers' duties regarding the disclosure of data and their subsequent management. In the short term, researchers and IRBs need to be proactive in revising current consent processes that deal with the disclosure of research findings.
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Investigación Biomédica/métodos , Genómica/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Consentimiento Informado/psicología , Trastornos Mentales/genética , Sujetos de Investigación/psicología , Investigación Biomédica/ética , Comprensión , Predisposición Genética a la Enfermedad , Genómica/ética , Secuenciación de Nucleótidos de Alto Rendimiento/ética , Humanos , Hallazgos Incidentales , Consentimiento Informado/ética , Fenotipo , Valor Predictivo de las Pruebas , PronósticoRESUMEN
We assessed whether certain life events contributed to the communication about cancer risk within families who have undergone BRCA1/2 testing. We also explored what type of resources participants would have valued to help in supporting family communication about genetic information. Two hundred and forty-six individuals (218 women, 28 men) who received a BRCA1/2 genetic test result 3 to 10 years earlier (mean of 6.4 years) participated in a telephone interview. Participants were asked about the occurrence of a number of life events (cancer diagnosis, death, uptake of prophylactic surgery, and providing care to a family member with cancer) in their family since their BRCA1/2 test result disclosure and, for each occurrence, whether it fostered family communication about cancer risk. A total of 182 participants (74 %) reported that they or one of their relatives received a cancer diagnosis, 176 (72 %) reported that someone died in their family, and 73 (30 %) stated that they or one of their relatives undertook a prophylactic surgery. During this period, 109 participants (44 %) also provided care for a family member who had cancer. Among participants who reported these life events, family communication was fostered by these events in proportions varying from 50 % (death) to 69 % (cancer diagnosis). Our results indicate that life events may contribute to family communication about cancer risk. Further research is needed to determine whether these events provide a "window of opportunity" to reach family members, address their needs and concerns about cancer, update family cancer history, and introduce genetic counseling and risk assessment.
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Familia , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Acontecimientos que Cambian la Vida , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
This study examines the process of communicating BRCA1/2 genetic test results to family members, and the factors influencing disclosure. Twenty-nine semi-structured telephone interviews with BRCA1/2 tested individuals, 4 to 9 years post-notification, were conducted. Our results suggest that individual, familial, relational and socio-medical factors influence the decision to disclose/not disclose genetic test results to family members. These factors are at play in all three communication phases: the Decision-making phase, in which the individual ponders various factors before deciding to disclose test results to family members; the Disclosure phase, in which communication per se takes place; and the Reaction phase, which shapes the participant's subsequent disclosure/non-disclosure decisions. We propose a guiding framework to assist in identifying and evaluating significant factors that might shape the course and outcome of the transmission of genetic information to family members.
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Familia , Genes BRCA1 , Genes BRCA2 , Pruebas Genéticas , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
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.
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Refuerzo Biomédico/ética , Valores Sociales , Humanos , Percepción , Terminología como AsuntoRESUMEN
It is inmportant to emphasize three aspects concerning the construction and teaching of 'French bioethics: the maintenance and promotion ofa multidisciplinary approach; a greater autonomy in the management and development of training programs; positioning a power of attraction and development in French-speaking countries. Bioethics is defined as a field of interdisciplinary studies at the junction of the health sciences and the humanities and, more importantly, directly connected to the reality of the health community, research and public Policy. A greater autonomy in the management and development of training programs is also capital. The danger of being dominated by one discipline involved whether medicine, law, philosophy, theology is real and prevents from promoting methodological approaches that are both theoretical and empirical. Finally, compliance with local and national, but also disciplinary diversity is essential to the construction and teaching of French bioethics. As such, the University of Montreal has positioned itself as a leader in the French-speaking countries: at the junction of North America and European countries, Quebec has developed its own specificity in bioethics, which is a force of attraction for many countries of the French-speaking world. In this context, the Bioethics Programs at the University of Montreal rely heavily on knowledge transfer to other cultures. Moreover, the internationalization of training programs in French bioethics is a major issue in the current context of globalization and transmission of knowledge.