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Objective: The objective was to compare risk factors between familial and sporadic ovarian cancer by means of a case-control approach.Study Design: We conducted a case-control study among French Canadian women in Montreal during 1995-1996. One hundred seventy women 20 to 84 years old with histologically confirmed diagnoses of primary ovarian carcinomas or borderline tumors were interviewed concerning their reproductive, family, and medical histories. During the same period 170 randomly selected population control subjects, frequency-matched to the case patients according to age and ethnic group, were also interviewed. Unconditional logistic regression methods were used for data analysis.Results: The major factors influencing the risk of development of ovarian cancer were as follows: (1) family history of breast or ovarian cancer, (2) a late age at use of oral contraceptives (a protective effect), and (3) a late age at last childbirth (a protective effect for familial case patients only).Conclusion: These factors had equally great impacts in familial and sporadic cases, implying that the underlying mechanisms of carcinogenesis in sporadic and familial ovarian cancer may be similar and that hereditary ovarian cancer may be preventable. [ABSTRACT FROM AUTHOR]

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.

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., (© 2021. The Author(s).)

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.

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., (Copyright© the College of Family Physicians of Canada.)

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.

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.

Substantial investments were made in population based biobanks over the past decade. Ethnocultural community members are both sponsors and beneficiaries of biobanks. In addition, the success of biobank projects depends on community support and participation. Yet there are few empirical data on views, perceptions and interests of ethnocultural communities on biobanks. This silent gap in genomics, ethics and policy literatures has to be addressed. We conducted a qualitative research study with in-depth interviews of ethnocultural community leaders (e.g., members of the Canadian Parliament, school commissioners) on their perspectives concerning population specific genomics research and biobanks. An equal partnership model where public is not only informed, but also involved in decision-making processes was perceived as an essential democratic requisite. These empirical data on ethnocultural community leaders' views, interests and perceptions identify several key socio-cultural and ethical factors that can be decisive for effective and sustainable community involvement in biobanks.

Genetic information can be used to target interventions that improve health and prevent disease. Indeed, the results of population genomics research could be useful for public health and national pandemic plans. Yet, firm scientific evidence originating from such research and the indicators of the role of health determinants, gene-gene and gene-environment interaction remain to be assessed and validated before being integrated into pandemic plans or public health programmes. It is not clear what is the role of the State in research on the elucidation of the determinants of gene-gene and gene-environment interactions and how, when, and if such data can be accessed and used for such planning. Over a period of 3 years, we sought to address these questions by gathering data and literature relevant to research in public health genomics, preparing issues papers and, finally, consulting with stakeholders on a provisional 'points to consider' document at various times. Examining in turn the issues of privacy, State powers, stakeholder perceptions, and public participation, we propose in this article, for each of these themes, a series of recommendations aiming to provide guidance on the role of the State in the use of genomic information for public health research, prevention and planning., (Copyright 2010 S. Karger AG, Basel.)

Background and Objective: In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported., Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study., Results: 8 of the 15 distinct mutations found in 62 BRCA1/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in > or =2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores > or =18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score > or =18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population., Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores > or =18, represents an efficient test in terms of overall cost and sensitivity.

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.

Today it is common to conduct research in collaboration with colleagues from different disciplines and institutions. The INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility (INHERIT BRCAs), involves Canadian and international experts from diverse fields working with health service providers, patients and collaborators from the World Health Organization and other European networks. Evidence-based information and knowledge transfer drive our efforts to advance genomic research to understand the genetic basis of cancer susceptibility and treatment response. Several goals reveal the interdisciplinary team approach: (a) to estimate the prevalence and penetrance of BRCA1 and BRCA2 mutations and their deleterious impact upon different populations; (b) to pinpoint novel breast cancer susceptibility loci; (c) to assess the efficacy of clinical interventions; (d) to address changes in quality of life and health-related behaviour from the decision to undergo genetics testing and during follow-up; (e) to evaluate legal, social and ethical implications; and, finally; (f) to promote professional and public education by facilitating the transfer of research findings to clinical practice and informing policy makers. The lessons learned by the INHERIT research team and future challenges are presented.