Striving to build an exhaustive guidebook of the types and properties of human cells, the Human Cell Atlas’ (HCA) success relies on the sampling of diverse populations, developmental stages, and tissue types. Its open science philosophy preconizes the rapid, seamless sharing of data – as openly as possible. In light of the scope and ambition of such an international initiative, the HCA Ethics Working Group (EWG) has been working to build a solid foundation to address the complexities of data collection and sharing as part of Atlas development. Indeed, a particular challenge of the HCA is the diversity of sampling scenarios (e.g., living participants, deceased donors, pediatric populations, culturally diverse backgrounds, tissues from various developmental stages, etc.), and associated ethical and legal norms, which vary across countries contributing to the effort. Hence, to the extent possible, the EWG set out to provide harmonised, international and interoperable policies and tools, to guide its research community. This paper provides a high-level overview of the types of challenges and approaches proposed by the EWG.

Background Advances in technology and knowledge have facilitated both an increase in the number of patient variants reported and variants reclassified. While there is currently no duty to recontact for reclassified genetic variants, there may be a responsibility. The purpose of this clinical practice advisory document is to provide healthcare practitioners guidance for recontact of previously identified and classified variants, suggest methods for recontact, and principles to consider, taking account patient safety, feasibility, ethical considerations, health service capacity and resource constraints. The target audience are practitioners who order genetic testing, follow patients who have undergone genetic testing and those analysing and reporting genetic testing. Methods A multidisciplinary group of laboratory and ordering clinicians, patient representatives, ethics and legal researchers and a genetic counsellor from the Canadian Association of Genetic Counsellors reviewed the existing literature and guidelines on responsibility to recontact in a clinical context to make recommendations. Comments were collected from the Canadian College of Medical Geneticists (CCMG) Education, Ethics, and Public Policy, Clinical Practice and Laboratory Practice committees, and the membership at large. Results Following incorporation of feedback, and external review by the Canadian Association of Genetic Counsellors and patient groups, the document was approved by the CCMG Board of Directors. The CCMG is the Canadian organisation responsible for certifying laboratory and medical geneticists who provide medical genetics services, and for establishing professional and ethical standards for clinical genetics services in Canada. Conclusion The document describes the ethical and practical factors and suggests a shared responsibility between patients, ordering clinician and laboratory practitioners.

Importance Governments worldwide have become increasingly cognizant of the spread of genetic discrimination (negative treatment or harm on the basis of actual or presumed genetic characteristics). Despite efforts by a number of governments to establish regulations addressing this phenomenon, public concern about genetic discrimination persists. Objective To identify key elements of an optimal genetic nondiscrimination policy and inform policymakers as they seek to allay genetic nondiscrimination and related public anxieties. Evidence Review Sixty multidisciplinary experts from 20 jurisdictions worldwide were consulted to understand their views on effective genetic nondiscrimination policies. Following standard requirements of the Delphi method, 3 rounds of surveys over the course of 1.5 years were conducted. Round 1 focused on assessing participants’ understanding of the intricacies of existing genetic nondiscrimination policies, while rounds 2 and 3 invited participants to reflect on specific means of implementing a more effective regime. A total of 60 respondents participated in the first round, 53 participated in round 2, and 43 participated in round 3. Findings While responses varied across disciplines, there was consensus that binding regulations that reach across various sectors are most useful in preventing genetic discrimination. Overall, experts agreed that human rights–based approaches are well suited to preventing genetic discrimination. Experts also agreed that explicit prohibition of genetic discrimination within nondiscrimination policies can highlight the importance of genetic nondiscrimination as a fundamental right and ensure robust protection at a national level. While most participants believed the international harmonization of genetic nondiscrimination laws would facilitate data sharing worldwide, they also recognized that regulations must reflect the sociocultural differences that exist among regions. Conclusions and Relevance As the reach of genetic discrimination continues to evolve alongside developments in genomics, strategic policy responses that are harmonious at the international and state levels will be critical to address this phenomenon. In seeking to establish comprehensive frameworks, policymakers will need to be mindful of regional and local circumstances that influence the need for and efficacy of unique genetic nondiscrimination approaches across diverse contexts.

Abstract In Canada, the field of genetic counseling is rapidly evolving alongside the increasing integration of and demand for genetics in healthcare practice. In tandem, there is a growing body of literature advocating for the regulation of genetic counseling, as legal recognition can protect patients from potential risk of harm and provide counselors with support by legally defining their roles and duties. However, there is a need for empirical qualitative research regarding the risks and challenges associated with the current lack of regulation to help inform these discussions. This article presents findings from 23 interviews with genetic counselors and their professional healthcare colleagues in Quebec. Themes were identified via interdisciplinary social scientific and legal content analysis. Notably, all participants were in favor of regulation, for varied reasons. Participant responses highlighted legal, organizational, and structural risks and challenges associated with the lack of legal recognition. First, the lack of role clarity creates issues with genetic counselors' working relationships and public recognition. Second, the autonomy of practitioners varies significantly, raising risks of liability and clinical preparedness when counselors have high autonomy or perform controlled acts. Third, the lack of recognition ultimately exacerbates structural strains on delivery and access to care. Results indicate that legal recognition stands to foster safer and more efficient provision of genetics services by increasing public awareness, instituting title protection and accountability mechanisms, clarifying professional scope, and mitigating liability risks. To the best of our knowledge, this is the first qualitative study to bring practicing stakeholders from across genetics services to the discussion on the lack of regulation of genetic counseling. Findings support the continued pursuit of legal recognition in Quebec and can inform similar initiatives in other jurisdictions.

Many countries consider long-term implications for society , In the context of biomedical research involving human subjects, the review of research proposals by ethics committees in virtually every country has traditionally focused on informed consent and other protections for individuals participating in research ( 1 ). However, the substantial societal implications of modern biomedical research and the globalization of scientific inquiry make it important to understand whether research ethics review in each country addresses both individual and societal issues. Knowledge of the practices internationally can promote understanding and can suggest possible innovations for specific countries. Below, we explore three related issues: (i) whether biomedical research ethics review considers the societal and long-term implications of the research, (ii) whether bodies charged with performing research ethics reviews are appropriate to consider these issues, and (iii) the feasibility and likely support for embedding multidisciplinary researchers with scientists to study societal and long-term implications. We address current regulatory policies and offer comments about possible changes.

Abstract Advances in medical genetics have led to a significant increase in demand for genetic services and expertise across almost all medical specialties. Genetic counselors (GCs) in Canada play key roles in genetic services both within and outside of the Genetics Clinic, while not being regulated or legally recognized as healthcare professionals (HCPs) in most provinces. Understanding whether GCs outside of the “traditional” Genetics Clinic influence patient care, their level of professional autonomy and supervisory structure is, therefore, important. In this study, we explore the current landscape of GC practice outside of the Genetics Clinic by describing positions, determining the professional scope of practice, as defined by the Canadian Association of Genetic Counselors (CAGC) and Canadian Board of Genetic Counseling (CBGC) core competencies, and by elucidating associated ethico?legal implications. An online survey was developed and distributed to GCs working with patient?related data in Canada in positions outside of the Genetics Clinic through the CAGC ListServ and accessed between March 5 and April 9, 2021. Thirty GCs were included in the study, with 16/30 in public healthcare system positions. Most respondents held roles with direct (11/30) and indirect (14/30) impact on patient care and management, and the majority reported performing their primary roles with minimal supervision (56%) or complete independence (36%). Most roles (22/25) elicited by respondents were considered to be within the GC scope of practice, except for administrative tasks and special projects. GCs were the only genetics?trained professional(s) in 8/30 of respondents' workplaces. The results of the current study support the value of GCs translatable skillset in positions beyond the Genetics Clinic, and outline ethico?legal implications for GCs, regulated HCPs, patients, and health institutions in the absence of legal recognition, including medical?legal liability and title protection. This study provides evidence in support of regulation of GCs as HCPs.

Abstract More than 5 billion people in the world own a smartphone. More than half of these have been used to collect and process health-related data. As such, the existing volume of potentially exploitable health data is unprecedentedly large and growing rapidly. Mobile health applications (apps) on smartphones are some of the worst offenders and are increasingly being used for gathering and exchanging significant amounts of personal health data from the public. This data is often utilized for health research purposes and for algorithm training. While there are advantages to utilizing this data for expanding health knowledge, there are associated risks for the users of these apps, such as privacy concerns and the protection of their data. Consequently, gaining a deeper comprehension of how apps collect and crowdsource data is crucial. To explore how apps are crowdsourcing data and to identify potential ethical, legal, and social issues (ELSI), we conducted an examination of the Apple App Store and the Google Play Store in North America and Europe to identify apps that could potentially gather health data through crowdsourcing. Subsequently, we analyzed their privacy policies, terms of use, and other related documentation to gain insights into the utilization of users’ data and the possibility of repurposing it for research or algorithm training purposes. More specifically, we reviewed privacy policies to identify clauses pertaining to the following key categories: research, data sharing, privacy/confidentiality, commercialization, and return of findings. Based on the results of these app search, we developed an App Atlas that presents apps which crowdsource data for research or algorithm training. We identified 46 apps available in the European and Canadian markets that either openly crowdsource health data for research or algorithm training or retain the legal or technical capability to do so. This app search showed an overall lack of consistency and transparency in privacy policies that poses challenges to user comprehensibility, trust, and informed consent. A significant proportion of applications presented contradictions or exhibited considerable ambiguity. For instance, the vast majority of privacy policies in the App Atlas contain ambiguous or contradictory language regarding the sharing of users’ data with third parties. This raises a number of ethico-legal concerns which will require further academic and policy attention to ensure a balance between protecting individual interests and maximizing the scientific utility of crowdsourced data. This article represents a key first step in better understanding these concerns and bringing attention to this important issue.

The growing prominence of artificial intelligence (AI) in mobile health (mHealth) has given rise to a distinct subset of apps that provide users with diagnostic information using their inputted health status and symptom information—AI-powered symptom checker apps (AISympCheck). While these apps may potentially increase access to health care, they raise consequential ethical and legal questions. This paper will highlight notable concerns with AI usage in the health care system, further entrenchment of preexisting biases in the health care system and issues with professional accountability. To provide an in-depth analysis of the issues of bias and complications of professional obligations and liability, we focus on 2 mHealth apps as examples—Babylon and Ada. We selected these 2 apps as they were both widely distributed during the COVID-19 pandemic and make prominent claims about their use of AI for the purpose of assessing user symptoms. First, bias entrenchment often originates from the data used to train AI systems, causing the AI to replicate these inequalities through a “garbage in, garbage out” phenomenon. Users of these apps are also unlikely to be demographically representative of the larger population, leading to distorted results. Second, professional accountability poses a substantial challenge given the vast diversity and lack of regulation surrounding the reliability of AISympCheck apps. It is unclear whether these apps should be subject to safety reviews, who is responsible for app-mediated misdiagnosis, and whether these apps ought to be recommended by physicians. With the rapidly increasing number of apps, there remains little guidance available for health professionals. Professional bodies and advocacy organizations have a particularly important role to play in addressing these ethical and legal gaps. Implementing technical safeguards within these apps could mitigate bias, AIs could be trained with primarily neutral data, and apps could be subject to a system of regulation to allow users to make informed decisions. In our view, it is critical that these legal concerns are considered throughout the design and implementation of these potentially disruptive technologies. Entrenched bias and professional responsibility, while operating in different ways, are ultimately exacerbated by the unregulated nature of mHealth.

Background Acute myeloid leukemia (AML), a rapidly progressing cancer of the blood and bone marrow, is the most common and fatal type of adult leukemia. Therapeutic web portals have great potential to facilitate AML research advances and improve health outcomes by increasing the availability of data, the speed and reach of new knowledge, and the communication between researchers and clinicians in the field. However, there is a need for stakeholder research regarding their optimal features, utility, and implementation. Methods To better understand stakeholder perspectives regarding an ideal pan-Canadian web portal for AML research, semi-structured qualitative interviews were conducted with 17 clinicians, researchers, and clinician-researchers. Interview guides were inspired by De Laat’s “fictive scripting”, a method where experts are presented with scenarios about a future technology and asked questions about its implementation. Content analysis relied on an iterative process using themes extracted from both existing scientific literature and the data. Results Participants described potential benefits of an AML therapeutic portal including facilitating data-sharing, communication, and collaboration, and enhancing clinical trial matchmaking for patients, potentially based on their specific genomic profiles. There was enthusiasm about researcher, clinician, and clinician-researcher access, but some disagreement about the nature of potential patient access to the portal. Interviewees also discussed two key elements they believed to be vital to the uptake and thus success of a therapeutic AML web portal: credibility and user friendliness. Finally, sustainability, security and privacy concerns were also documented. Conclusions This research adds to existing calls for digital platforms for researchers and clinicians to supplement extant modes of communication to streamline research and its dissemination, advance precision medicine, and ultimately improve patient prognosis and care. Findings are applicable to therapeutic web portals more generally, particularly in genomic and translational medicine, and will be of interest to portal end-users, developers, researchers, and policymakers.

Background Artificial intelligence (AI)–based chatbots could help address some of the challenges patients face in acquiring information essential to their self-health management, including unreliable sources and overburdened health care professionals. Research to ensure the proper design, implementation, and uptake of chatbots is imperative. Inclusive digital health research and responsible AI integration into health care require active and sustained patient and stakeholder engagement, yet corresponding activities and guidance are limited for this purpose. Objective In response, this manuscript presents a master protocol for the development, testing, and implementation of a chatbot family in partnership with stakeholders. This protocol aims to help efficiently translate an initial chatbot intervention (MARVIN) to multiple health domains and populations. Methods The MARVIN chatbots study has an adaptive platform trial design consisting of multiple parallel individual chatbot substudies with four common objectives: (1) co-construct a tailored AI chatbot for a specific health care setting, (2) assess its usability with a small sample of participants, (3) measure implementation outcomes (usability, acceptability, appropriateness, adoption, and fidelity) within a large sample, and (4) evaluate the impact of patient and stakeholder partnerships on chatbot development. For objective 1, a needs assessment will be conducted within the setting, involving four 2-hour focus groups with 5 participants each. Then, a co-construction design committee will be formed with patient partners, health care professionals, and researchers who will participate in 6 workshops for chatbot development, testing, and improvement. For objective 2, a total of 30 participants will interact with the prototype for 3 weeks and assess its usability through a survey and 3 focus groups. Positive usability outcomes will lead to the initiation of objective 3, whereby the public will be able to access the chatbot for a 12-month real-world implementation study using web-based questionnaires to measure usability, acceptability, and appropriateness for 150 participants and meta-use data to inform adoption and fidelity. After each objective, for objective 4, focus groups will be conducted with the design committee to better understand their perspectives on the engagement process. Results From July 2022 to October 2023, this master protocol led to four substudies conducted at the McGill University Health Centre or the Centre hospitalier de l’Université de Montréal (both in Montreal, Quebec, Canada): (1) MARVIN for HIV (large-scale implementation expected in mid-2024), (2) MARVIN-Pharma for community pharmacists providing HIV care (usability study planned for mid-2024), (3) MARVINA for breast cancer, and (4) MARVIN-CHAMP for pediatric infectious conditions (both in preparation, with development to begin in early 2024). Conclusions This master protocol offers an approach to chatbot development in partnership with patients and health care professionals that includes a comprehensive assessment of implementation outcomes. It also contributes to best practice recommendations for patient and stakeholder engagement in digital health research. Trial Registration ClinicalTrials.gov NCT05789901; https://classic.clinicaltrials.gov/ct2/show/NCT05789901 International Registered Report Identifier (IRRID) PRR1-10.2196/54668

The role of genetic counselors is evolving in response to health-related direct-to-consumer genetic tests (DTC-GT). While there is consensus in the literature that pre- and post-DTC-GT genetic counseling would benefit consumers, genetic counselors have reservations about DTC-GTs, and there is a paucity of research on providing DTC-GT counseling. This pilot quantitative survey is the first study to examine Canadian genetic counselors’ views on DTC-GTs and how this disruptive biotechnology affects their role, and consumer informed consent and privacy. Canadian genetic counselors are cognizant of the harm to informed consent and privacy associated with DTC-GT, but are hesitant to engage directly, wary of misusing clinical time and resources. However, counselors are open to producing educational materials on DTC-GTs and collaborating with other stakeholders and the DTC-GT industry to support consumers. In this study, practical considerations for DTC-GT counseling sessions are discussed, including the unique needs of DTC-GT patients and the challenges posed by DTC-GTs to the genetic counseling duty to inform. This research benefits genetic counselors and physicians by examining how best to utilize genetic counselors’ skills in the DTC-GT context, to minimize burdens on the healthcare system and support DTC-GT consumers.

This document outlines Points to Consider (PtC) for the responsible sharing of human genomic and health data internationally by Health Technologies Industries (HTI). HTI can contribute unique resources, technologies, and expertise to translating genomic discoveries into improvements in human health. International data sharing can further accelerate research and innovation. It can strengthen statistical power and reproducibility, facilitate collaboration and creative re-use of real-world evidence, increase the representativeness of precision medicine databases, and power AI approaches (including machine learning, deep learning and predictive modeling) that support genomic interpretation and clinical decision-making. Yet, research, innovation, and data sharing to advance precision medicine also raise important ethical issues, which include risks to the welfare and privacy of sequenced individuals, their families, and communities. The legal and policy landscape relating to data sharing is rapidly evolving. Relevant norms apply in areas of data privacy and protection law; AI law, governance, and ethical principles; research ethics regulations; and data sharing policies. This PtC tailored for HTI builds on the GA4GH’s Framework for Responsible Sharing of Genomic and Health-related Data (2014, re-approved 2019) and subsequent policies. The Framework is founded on human rights, aiming in particular to activate the right of everyone to share in scientific advancement and its benefits. Relevant Core Elements include: Transparency; Accountability; Data Quality and Security; Privacy, Data Protection and Confidentiality; Risk-Benefit Analysis; and Recognition and Attribution. Implementation of this PtC requires careful attention to the particular context – including the relevant jurisdictions, applicable laws and policies, sectors, companies, data sharing activities, and types of health and genomic data. The PtC is accompanied by Explanatory Notes (Appendix A) and issue-driven Briefs (Appendix B) to set the international context.

Abstract Risk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and improved preventative modalities. These models are evolving and becoming more complex, increasingly integrating genetic screening data and polygenic risk scores as well as calculating risk for multiple types of a disease. However, unclear regulatory compliance requirements applicable to these models raise significant legal uncertainty and new questions about the regulation of medical devices. This paper aims to address these novel regulatory questions by presenting an initial assessment of the legal status likely applicable to risk prediction models in Canada, using the CanRisk tool for breast and ovarian cancer as an exemplar. Legal analysis is supplemented with qualitative perspectives from expert stakeholders regarding the accessibility and compliance challenges of the Canadian regulatory framework. While the paper focuses on the Canadian context, it also refers to European and U.S. regulations in this domain to contrast them. Legal analysis and stakeholder perspectives highlight the need to clarify and update the Canadian regulatory framework for Software as a Medical Device as it applies to risk prediction models. Findings demonstrate how normative guidance perceived as convoluted, contradictory or overly burdensome can discourage innovation, compliance, and ultimately, implementation. This contribution aims to initiate discussion about a more optimal legal framework for risk prediction models as they continue to evolve and are increasingly integrated into landscape for public health.

Abstract HostSeq was launched in April 2020 as a national initiative to integrate whole genome sequencing data from 10,000 Canadians infected with SARS-CoV-2 with clinical information related to their disease experience. The mandate of HostSeq is to support the Canadian and international research communities in their efforts to understand the risk factors for disease and associated health outcomes and support the development of interventions such as vaccines and therapeutics. HostSeq is a collaboration among 13 independent epidemiological studies of SARS-CoV-2 across five provinces in Canada. Aggregated data collected by HostSeq are made available to the public through two data portals: a phenotype portal showing summaries of major variables and their distributions, and a variant search portal enabling queries in a genomic region. Individual-level data is available to the global research community for health research through a Data Access Agreement and Data Access Compliance Office approval. Here we provide an overview of the collective project design along with summary level information for HostSeq. We highlight several statistical considerations for researchers using the HostSeq platform regarding data aggregation, sampling mechanism, covariate adjustment, and X chromosome analysis. In addition to serving as a rich data source, the diversity of study designs, sample sizes, and research objectives among the participating studies provides unique opportunities for the research community.

Objectives COVID-19 research has significantly contributed to pandemic response and the enhancement of public health capacity. COVID-19 data collected by provincial/territorial health authorities in Canada are valuable for research advancement yet not readily available to the public, including researchers. To inform developments in public health data-sharing in Canada, we explored Canadians’ opinions of public health authorities sharing deidentified individual-level COVID-19 data publicly. Design/setting/interventions/outcomes A national cross-sectional survey was administered in Canada in March 2022, assessing Canadians’ opinions on publicly sharing COVID-19 datatypes. Market research firm Léger was employed for recruitment and data collection. Participants Anyone greater than or equal to 18 years and currently living in Canada. Results 4981 participants completed the survey with a 92.3% response rate. 79.7% were supportive of provincial/territorial authorities publicly sharing deidentified COVID-19 data, while 20.3% were hesitant/averse/unsure. Datatypes most supported for being shared publicly were symptoms (83.0% in support), geographical region (82.6%) and COVID-19 vaccination status (81.7%). Datatypes with the most aversion were employment sector (27.4% averse), postal area (26.7%) and international travel history (19.7%). Generally supportive Canadians were characterised as being ?50 years, with higher education, and being vaccinated against COVID-19 at least once. Vaccination status was the most influential predictor of data-sharing opinion, with respondents who were ever vaccinated being 4.20 times more likely (95% CI 3.21 to 5.48, p=0.000) to be generally supportive of data-sharing than those unvaccinated. Conclusions These findings suggest that the Canadian public is generally favourable to deidentified data-sharing. Identifying factors that are likely to improve attitudes towards data-sharing are useful to stakeholders involved in data-sharing initiatives, such as public health agencies, in informing the development of public health communication and data-sharing policies. As Canada progresses through the COVID-19 pandemic, and with limited testing and reporting of COVID-19 data, it is essential to improve deidentified data-sharing given the public’s general support for these efforts.

The use of smartphones has greatly increased in the last decade and has revolutionized the way that health data are being collected and shared. Mobile applications leverage the ubiquity and technological sophistication of modern smartphones to record and process a variety of metrics relevant to human health, including behavioral measures, clinical data, and disease symptoms. Information processed by mobile applications may have significant utility for increasing biomedical knowledge, both through conventional research and emerging discovery paradigms such as citizen science. However, the ways in which smartphone-collected data may be used in nontraditional modes of biomedical discovery are not well understood, such as using data to train artificially intelligent algorithms and for product development purposes. This paper argues that the use of mobile health data for algorithm training and product development is (a) likely to become a prominent fixture in medicine, (b) likely to raise significant ethical and legal challenges, and (c) warrants immediate scrutiny by policymakers and scholars. We introduce the concept of “smartphone-crowdsourced medical data,” or SCMD, and set out a broad research agenda for addressing concerns associated with this new and potentially momentous practice. We conclude that SCMD for algorithm training raises a number of ethical and legal issues which require further scholarly attention to ensure that individual interests are protected and that emerging health information sources can be used in ways that maximally, and safely, promote medical innovation.

Genetic counseling is a fast-growing profession worldwide, with genetic counselors taking on increasingly comprehensive and autonomous roles in the healthcare sector. However, the absence of appropriate legal frameworks could potentially create risks of harm to the public. Legal recognition serves to protect the public from risk of harm by regulating the safe and competent practice of healthcare professionals. Genetic counseling is not legally recognized in most world jurisdictions. Examination of the legal status of genetic counseling in different jurisdictions and whether existing legal mechanisms are adequate to address potential risks of harm is therefore timely. This paper examines the different roles of genetic counselors in the Canadian province of Quebec and the state of Qatar, the authors’ respective jurisdictions. It considers the types of harms that may be created where appropriate legal mechanisms are lacking, considering the socio-political and legal differences between the two jurisdictions. Moreover, it examines the legal status of genetic counseling in Quebec and Qatar to determine whether these statuses appropriately address the identified risks of harm. The authors argue that existing legal frameworks are inadequate to address these risks and recommend that additional regulatory mechanisms be implemented to properly protect the public from risks of harm.

Les ressources en ligne offrent un moyen particulièrement efficace de partager la recherche en santé avec les scientifiques et le public. L’utilisation de portails web pour mettre les résultats et les informations sur les études à la disposition de divers publics pourrait accélérer l’application des résultats de la recherche et permettre aux patients de jouer un rôle plus actif dans leurs soins. Cependant, l’utilisation d’outils en ligne pour partager largement des informations sur la santé soulève plusieurs questions éthiques et réglementaires délicates. Des questions telles que l’équité, la protection de la vie privée et l’autonomisation des patients peuvent poser des problèmes aux organismes de réglementation, aux concepteurs de portails et aux chercheurs. En outre, il n’est pas certain que les portails web conçus pour faciliter l’accès aux résultats de la recherche et aux informations générales sur la santé soient réglementés en tant que dispositifs médicaux dans le cadre des régimes émergents qui contrôlent les logiciels à des fins médicales. Le présent document a pour but d’examiner de manière comparative si les portails thérapeutiques en ligne destinés au partage de la recherche en matière de santé sont susceptibles d’être réglementés au Canada, aux États-Unis, au Royaume-Uni et en France. Nous constatons que, bien que ces juridictions aient toutes pris des mesures récentes pour réglementer les logiciels en tant que dispositifs médicaux, les régimes applicables n’englobent généralement pas les portails en ligne destinés au partage de la recherche en matière de santé. Bien que les portails en ligne pour le partage de la recherche en santé ne soient probablement pas réglementés dans de nombreuses juridictions (si ce n’est la plupart), les agences ont néanmoins fait part de leurs préoccupations concernant plusieurs considérations éthiques importantes (telles que l’équité, la transparence et la sécurité), auxquelles les développeurs de portails et les chercheurs doivent être attentifs et répondre. Nous décrivons ici un ensemble de questions soulignées par les régulateurs – à savoir l’efficacité, l’équité, la transparence, la confidentialité, la communication, la responsabilisation, la formation, la sécurité et l’efficacité – et examinons comment guider au mieux la conception des portails en ligne dans un contexte d’incertitude réglementaire.

This paper summarizes the results of a 31-country qualitative study of expert perspectives on the regulation of international “direct-to-participant” (DTP) genomic research. We outline how the practice of directly recruiting participants for genomic studies online complicates ethics and regulatory considerations for the return of individual research results. As part of a larger project supported by the National Human Genome Research Institute, National Institutes of Health, we prepared and distributed to 31 global legal experts a questionnaire intended to ascertain opinions and perspectives on the way international DTP genomic research is likely to be regulated. We found significant disagreement across jurisdictions on the most favorable approach to managing such results, with some countries favoring return by default and others preferring to return only with the express consent of research participants. We conclude by outlining policy considerations that should guide researcher practices in this context. As international DTP genomic research evolves, jurists and ethicists should be attentive to the ways novel approaches to subject recruitment align with existing ethical and regulatory norms in research with human participants. This paper is a preliminary step toward documenting such alignment in the context of the return of individual research results.

COVID-19 was declared to be a pandemic in March 2020 by the World Health Organization. Timely sharing of viral genomic sequencing data accompanied by a minimal set of contextual data is essential for informing regional, national, and international public health responses. Such contextual data is also necessary for developing, and improving clinical therapies and vaccines, and enhancing the scientific community’s understanding of the SARS-CoV-2 virus. The Canadian COVID-19 Genomics Network (CanCOGeN) was launched in April 2020 to coordinate and upscale existing genomics-based COVID-19 research and surveillance efforts. CanCOGeN is performing large-scale sequencing of both the genomes of SARS-CoV-2 virus samples (VirusSeq) and affected Canadians (HostSeq). This paper addresses the privacy concerns associated with sharing the viral sequence data with a pre-defined set of contextual data describing the sample source and case attribute of the sequence data in the Canadian context. Currently, the viral genome sequences are shared by provincial public health laboratories and their healthcare and academic partners, with the Canadian National Microbiology Laboratory and with publicly accessible databases. However, data sharing delays and the provision of incomplete contextual data often occur because publicly releasing such data triggers privacy and data governance concerns. The CanCOGeN Ethics and Governance Expert Working Group thus has investigated several privacy issues cited by CanCOGeN data providers/stewards. This paper addresses these privacy concerns and offers insights primarily in the Canadian context, although similar privacy considerations also exist in other jurisdictions. We maintain that sharing viral sequencing data and its limited associated contextual data in the public domain generally does not pose insurmountable privacy challenges. However, privacy risks associated with reidentification should be actively monitored due to advancements in reidentification methods and the evolving pandemic landscape. We also argue that during a global health emergency such as COVID-19, privacy should not be used as a blanket measure to prevent such genomic data sharing due to the significant benefits it provides towards public health responses and ongoing research activities.

Single-site review means protection and efficiency

Genetic counseling is a fast-growing profession in Canada. Yet, despite its growth, genetic counseling lacks legal recognition in the majority of Canadian provinces. Legal recognition serves to regulate professions, including genetic counseling, that if not properly regulated, expose the public to the risk of harm. Under Canadian law, there are three models of legal recognition: 1) the constitution of a professional order, 2) inclusion in a professional order, and 3) delegation. This paper explores the practical implications of these different models of legal recognition for genetic counselors. It focuses on the balancing act between protecting the public and the resources required to seek legal recognition under the three different models. With a small number of genetic counselors (n = 484, with 89% found in 4 provinces) compared to other professions, the route toward professional regulation for genetic counselors can be challenging. Though legal recognition occurs at the provincial rather than federal level in Canada, we nonetheless advocate for pan-Canadian discussions that may benefit future pursuits of legal recognition.

Prepared for the Genome Canada Science and Industry Advisory Committee and Canadian Institutes of Health Research Science Council

Background: This study aims to identify a novel potential use for web portals in health care and health research: their adoption for the purposes of rapidly sharing health research findings with clinicians, scientists, and patients. In the era of precision medicine and learning health systems, the translation of research findings into targeted therapies depends on the availability of big data and emerging research results. Web portals may work to promote the availability of novel research, working in tandem with traditional scientific publications and conference proceedings. Objective: This study aims to assess the potential use of web portals, which facilitate the sharing of health research findings among researchers, clinicians, patients, and the public. It also summarizes the potential legal, ethical, and policy implications associated with such tools for public use and in the management of patient care for complex diseases. Methods: This study broadly adopts the methods for scoping literature reviews outlined by Arskey and O’Malley in 2005. Raised by the integration of web portals into patient care for complex diseases, we systematically searched 3 databases, PubMed, Scopus, and WestLaw Next, for sources describing web portals for sharing health research findings among clinicians, researchers, and patients and their associated legal, ethical, and policy challenges. Of the 719 candidate source citations, 22 were retained for the review. Results: We found varied and inconsistent treatment of web portals for sharing health research findings among clinicians, researchers, and patients. Although the literature supports the view that portals of this kind are potentially highly promising, they remain novel and are not yet widely adopted. We also found a wide range of discussions on the legal, ethical, and policy issues related to the use of web portals to share research data. Conclusions: We identified 5 important legal and ethical challenges: privacy and confidentiality, patient health literacy, equity, training, and decision-making. We contend that each of these has meaningful implications for the increased integration of web portals into clinical care.

The implementation of precision medicine and next-generation sequencing technologies in the field of oncology is a novel approach being more widely studied and used in cases of high-risk primary and recurrent malignancies. Leukemias are the second most common cause of cancer-related mortality in children and the sixth most in adults. Relapsed leukemia represents a major component of the population that may benefit from genomic sequencing. However, ethical and analytic challenges arise when considering sequencing of biologic samples obtained from patients with relapsed leukemia following allogeneic hematopoietic stem-cell transplantation. Blood from the recipient after transplantation would include donor-derived cells and thus, genomic sequencing of recipient blood will interrogate the donor germline in addition to the somatic genetic profile of the leukemia cells and the recipient germline. This is a situation for which the donor will not have typically provided consent and may be particularly problematic if actionable secondary or incidental findings related to the donor are uncovered. We present the challenges raised in this scenario and provide strategies to mitigate this risk.

In the Canadian Alliance for Healthy Hearts and Minds (CAHHM) cohort, participants underwent magnetic resonance imaging (MRI) of the brain, heart, and abdomen, that generated incidental findings (IFs). The approach to managing these unexpected results remain a complex issue. Our objectives were to describe the CAHHM policy for the management of IFs, to understand the impact of disclosing IFs to healthy research participants, and to reflect on the ethical obligations of researchers in future MRI studies.

Biomedical research based on the sharing and use of ever larger volumes of samples and data is increasingly becoming an essential component of scientific discovery. The success of biobanking and genomic research is dependent on the broad sharing of resources for use by investigators. However, important ethical challenges need to be addressed for the sample and data sharing to be successful. Despite low- and middle-income countries (LMICs) carrying a higher burden of disease, biomedical research conducted to date has mainly focused on high-income countries. In order for LMICs to benefit from the advances in such research, normative documents (such as laws and guidelines) play a significant role in allowing LMIC projects to partake and be represented in global biomedical research. The administration and management of the ethical aspects of biobanking, including informed consent, are key components in ensuring that samples and data can legally and ethically be used and shared. As part of its support to the LMIC biobanks, the International Agency for Research on Cancer (IARC) established a biobank and population cohort building network (BCNet) in 2013 with the aims of providing support (including education and training) and facilitating the development and improvement of biobanking infrastructure in LMICs. A comparative analysis of the laws and guidelines in BCNet countries was completed to highlight some of the ethical and legal issues related to biobanking in LMICs and to identify examples of effective systems of governance already in operation.

SARS-CoV-2 infection causing the novel coronavirus disease 2019 (COVID–19) has been responsible for more than 2.8 million deaths and nearly 125 million infections worldwide as of March 2021. In March 2020, the World Health Organization determined that the COVID–19 outbreak is a global pandemic. The urgency and magnitude of this pandemic demanded immediate action and coordination between local, regional, national, and international actors. In that mission, researchers require access to high-quality biological materials and data from SARS-CoV-2 infected and uninfected patients, covering the spectrum of disease manifestations. The “Biobanque québécoise de la COVID-19” (BQC19) is a pan–provincial initiative undertaken in Québec, Canada to enable the collection, storage and sharing of samples and data related to the COVID-19 crisis. As a disease-oriented biobank based on high-quality biosamples and clinical data of hospitalized and non-hospitalized SARS-CoV-2 PCR positive and negative individuals. The BQC19 follows a legal and ethical management framework approved by local health authorities. The biosamples include plasma, serum, peripheral blood mononuclear cells and DNA and RNA isolated from whole blood. In addition to the clinical variables, BQC19 will provide in-depth analytical data derived from the biosamples including whole genome and transcriptome sequencing, proteome and metabolome analyses, multiplex measurements of key circulating markers as well as anti-SARS-CoV-2 antibody responses. BQC19 will provide the scientific and medical communities access to data and samples to better understand, manage and ultimately limit, the impact of COVID-19. In this paper we present BQC19, describe the process according to which it is governed and organized, and address opportunities for future research collaborations. BQC19 aims to be a part of a global communal effort addressing the challenges of COVID–19.

INTRODUCTION: Childhood overweight and obesity (OWO) is a primary global health challenge. Childhood OWO prevention is now a public health priority in China. The Sino-Canadian Healthy Life Trajectories Initiative (SCHeLTI), one of four trials being undertaken by the international HeLTI consortium, aims to evaluate the effectiveness of a multifaceted, community-family-mother-child intervention on childhood OWO and non-communicable diseases risk. METHODS AND ANALYSIS: This is a multicentre, cluster-randomised, controlled trial conducted in Shanghai, China. The unit of randomisation is the service area of Maternal Child Health Units (N=36). We will recruit 4500 women/partners/families in maternity and district level hospitals. Participants in the intervention group will receive a multifaceted, integrated package of health promotion interventions beginning in preconception or in the first trimester of pregnancy, continuing into infancy and early childhood. The intervention, which is centred on a modified motivational interviewing approach, will target early-life maternal and child risk factors for adiposity. Through the development of a biological specimen bank, we will study potential mechanisms underlying the effects of the intervention. The primary outcome for the trial is childhood OWO (body mass index for age ?85th percentile) at 5 years of age, based on WHO sex-specific standards. The study has a power of 0.8 (?=0.05) to detect a 30% risk reduction in the proportion of children with OWO at 5 years of age, from 24.4% in the control group to 17% in the intervention group. Recruitment was launched on 30 August 2018 for the pilot study and 10 January 2019 for the formal study. ETHICS AND DISSEMINATION: The study has been approved by the Medical Research Ethics Committee of the International Peace Maternity and Child Health Hospital in Shanghai, China, and the Research Ethics Board of the Centre Intégré Universitaire de Santé et Services Sociaux de l'Estrie-CHUS in Sherbrooke, Canada. Data sharing policies are consistent with the governance policy of the HeLTI consortium and government legislation. TRIAL REGISTRATION NUMBER: ChiCTR1800017773. PROTOCOL VERSION: November 11, 2020 (Version #5).

Children with rare and common diseases now undergo whole genome sequencing (WGS) in clinical and research contexts. Parents sometimes request access to their child's raw genomic data, to pursue their own analyses or for onward sharing with health professionals and researchers. These requests raise legal, ethical, and practical issues for professionals and parents alike. The advent of widespread WGS in pediatrics occurs in a context where privacy and data protection law remains focused on giving individuals control-oriented rights with respect to their personal information. Acting in their child's stead and in their best interests, parents are generally the ones who will be exercising these informational rights on behalf of the child. In this paper, we map the contours of parental authority to access their child's raw genomic data. We consider three use cases: hospital-based researchers, healthcare professionals acting in a clinical-diagnostic capacity, and “pure” academic researchers at a public institution. Our research seeks to answer two principal questions: Do parents have a right of access to their child's raw WGS data? If so, what are the limits of this right? Primarily focused on the laws of Ontario, Canada's most populous province, with a secondary focus on Canada's three other most populous provinces (Quebec, British Columbia, and Alberta) and the European Union, our principal findings include (1) parents have a general right of access to information about their children, but that the access right is more capacious in the clinical context than in the research context; (2) the right of access extends to personal data in raw form; (3) a consideration of the best interests of the child may materially limit the legal rights of parents to access data about their child; (4) the ability to exercise rights of access are transferred from parents to children when they gain decision-making capacity in both the clinical and research contexts, but with more nuance in the former. With these findings in mind, we argue that professional guidelines, which are concerned with obligations to interpret and return results, may assist in furthering a child's best interests in the context of legal access rights. We conclude by crafting recommendations for healthcare professionals in the clinical and research contexts when faced with a parental request for a child's raw genomic data.

Genetics and genomics are playing increasingly important roles in the Canadian health car…

The last fifteen years have seen the emergence of Public Health Genomics (PHG), a multidisciplinary field related to the effective and responsible translation of genome-based knowledge and technologies to improve population health. While at the beginning the main concern of PHG was that genetic/genomic applications should be evaluated rigorously before entering into clinical and public health (PH) practice, now the main matter is around the fact that there are some genetic/genomic applications with proved efficacy and cost-effectiveness that should be implemented and become citizens’ rights. In any case, there is a critical need for a robust evaluation process, that takes into account also context-related dimensions (delivery models, economic evaluation and organizational aspects) to facilitate the implementation of these technologies. Systematic reviews of full economic evaluations of genetic/genomic applications are of paramount importance to identify all feasible health programs involving a defined use of a particular genetic/genomic application and to recognize which health programs can maximize the value of that genetic/genomic application. Cost-effectiveness analyses may be useful also in the early stages of the evaluation process to assess which characteristics of a genetic/genomic application need to be improved. Finally, the implementation of genetic/genomics applications requires specific training efforts for public health professional to increase their current level of competence. All these issues are addressed in this chapter, using the population health perspective and the point of view of PH.

Effective responses to the COVID-19 pandemic require novel solutions for research and responsible data sharing. Biobanking presents itself as a key priority in furthering our understanding of COVID-19. In this article, we propose a tripartite approach to consent to create resources for research relating to COVID-19. The approach aims to link three levels of participation: COVID-19 patients, respiratory/infectious disease patients, and longitudinal study participants. We explore the potential approaches that can be taken to consent processes with these three participant groups. We furthermore describe an access model for both single-site and multi-site data and sample storage. Through dealing with these topics at a high level, the model may be adapted to local legal and ethical requirements while still pursuing its ultimate goal: the creation of a research infrastructure that supports transparent, strong, and open science.

Introduction: Biospecimens and associated data are invaluable tools in Genomics and Personalized Health (GAPH) research and can aid in the discovery of disease etiology and the development of therapeutics. Objective: To examine the experiences of patients invited to a particular GAPH study, Spectrometry in TIA Rapid Assessment (SpecTRA), and to explore broader biospecimen and data sharing preferences among a larger group of patients who had opted into a Permission to Contact for research program. Methods: An electronic survey was e-mailed to 515 participants. The survey was completed by 38% of participants, an unspecified number of whom were also SpecTRA participants. Results: Of those respondents who recalled participating in SpecTRA, 96% strongly agreed, agreed, or were neutral when asked if they received enough information to make an informed decision. Seventy-two percent agreed and 20% were neutral when asked if their study questions were addressed. Ninety-six percent of all respondents felt that SpecTRA's aim to develop a proteomic test for stroke was a worthwhile investment for health care, 98% said they were willing to provide a sample and/or information to facilitate the project's goals, and 96% to health research in general. Fifty-three percent of all participants suggested they would be comfortable sharing health information collected during SpecTRA with for-profit organizations, 87% with nonprofit organizations, and 38% said it matters to them where in the world their sample/information would be sent. Conclusions: Our results suggest that while there is room for improvement in providing adequate information to enable participants' understanding of the purpose of GAPH studies such as SpecTRA, patients are supportive of GAPH in general. Results also suggest that willingness to participate would likely be impacted by factors such as the study's commercial and national affiliations. This study indicates that further work is required to guide improvements on how the GAPH research community describes studies to potential participants, and to enable participation options that incorporate variable participant preferences.

Canadian medical law orbits in a constellation of diverse legal influences spanning the course of the country’s legislative historical development. The provision of healthcare in Canada is characteristically decentralized, with 13 individual models of provincial and territorial healthcare policies that share overarching standards defined by federal statute. This chapter examines the laws of consent to medical treatment in Canada as well as related physician obligations, such as duties of disclosure and associated exceptions, medical liability and emerging challenges to informed consent. In this chapter, we present a comparative overview of the dominant legal scheme in both the common and civil law in Canada, approaching such review through the lens of developments in informatics as well as medical research and clinical practice. Our objective is to underscore how the laws of informed consent are shaped by the dynamic and ever-expanding medical field, and how this requires constant scrutiny guided by legal deference to scientific, medical, ethical, and administrative experts on technical matters.

In this paper, we outline the policy implications of mobile health research conducted at the international level. We describe the manner in which such research may have an international dimension and argue that it is not likely to be excluded from conventionally applicable international regulatory tools. We suggest that closer policy attention is needed for this rapidly proliferating approach to health research.

BackgroundResearch in the field of genomics and genetics has evolved in recent years and so has the demand of consumers who are increasingly interested in genomic prediction of diseases and various traits. The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada.MethodsAn ad hoc questionnaire was designed and administered online in 2017 to healthcare workers with good knowledge or experience in the provision of BReast CAncer genes 1 and 2 (BRCA1/2), Lynch syndrome, familial hypercholesterolemia, inherited thrombophilia genetic tests, engaged in policy planning or evaluation of genetic services. A quali-quantitative analysis of the survey results was performed.ResultsThirty professionals participated in the study. The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. Barriers to genetic services are the coverage of genetic tests by the publicly funded healthcare system, the availability of qualified personnel, and the number of genetic centers. Regulatory oversight concerning the provision of genetic services appears to be insufficient.ConclusionsIntegration between genetics and the overall healthcare system in Quebec is in an early phase. Current models of genetic services require good level of genetic knowledge by all medical specialists, collaboration among different healthcare personnel, and work redistribution. The proper implementation of genomics into healthcare can be achieved through education and training, proper regulatory oversight, genomic policies, and public awareness.

Over the past decade, smartphone technology has become increasingly sophisticated and ubiquitous. Modern smartphones, now owned by more than three quarters of Canadians and 94% of millennials, perform an array of functions that are potentially useful in the health care context, such as tracking fitness data, enabling health record sharing, and providing user-friendly platforms for disease management. Approximately half of smartphone users have downloaded at least one health app, and clinicians are increasingly using them in their practice. However, despite widespread use, there is little evidence that supports their safety and efficacy. Few apps have been independently evaluated and many lack basic patient protections such as privacy policies. In this context, the demand for the regulation of mobile health apps has increased. Against this backdrop, regulators, including Health Canada, have begun to propose regulating the use of smartphones in health care. In this viewpoint, we respond to Health Canada’s recent proposal to regulate smartphone use in Canada according to a risk-based model. We argue that although Health Canada’s recent proposed approach is promising, it may require complementary regulation and oversight.

Our understanding of the clinical significance of genomic data is rapidly evolving. The meaning of a patient’s test results can therefore change over time. Reanalysis of genomic data over time and patient recontact offer an opportunity to improve patient health. But are physicians legally responsible to do so? Professional associations worldwide are outlining best practices for genetic recontact. To inform Canadian guidelines and courts faced with this issue, we review Canadian case law to determine if there is a likely doctrinal basis for judicial recognition of a duty to recontact in genetics. Foreign guidelines or malpractice case law may not adequately reflect the peculiarities of Canada’s diverse legal and public health systems. A threshold consideration is the duration of the physician-patient relationship, seeing as physicians do not generally owe legal duties to former patients. This legal relationship endures according to the need for continued care as well as the subjective perspectives of both physician and patient. Satisfying these criteria in genetics can be difficult because of interpretative uncertainty or the absence of definitive intervention. Moreover, coordination of genetic analysis, communication, and follow-up care between healthcare professionals is complex, leading to problems of incomplete hand-off between laboratories, specialists, and primary care providers. The key challenge for plaintiffs will be to establish fault, that is, breach of a duty. Physicians in Canada traditionally have duties to diagnose, inform, follow-up and of confidentiality. We conclude that a legal duty of genetic recontact is only likely in specific circumstances where physicians acquire updated genetic information of clear health significance. This remains unlikely unless health systems or laboratories commit to systemic and adaptive reanalysis. This may change with the confluence of whole genome testing and advanced health information technologies (HIT). Whole genome sequences include millions of individual genetic variants and in turn, millions of opportunities for adaptive reinterpretation. HIT enables data sharing between laboratories, automated reanalysis of genomic test results, and new lines of communication with physicians and patients. Fundamentally, it is only health systems or institutions that can provide the infrastructure needed to adapt patient care in step with an evolving genetic knowledgebase.

In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease Collaboration for Autosomal Loci (RaDiCAL) studies the rarest diseases, where occasionally only a single proband is available to identify putative disease-causing genes. This article reviews how “RaDiCAL” addressed some of the challenges in generating informed consent documents for international participants and considers the emerging topic of the “right not to know” in study design.

Samples and data from population studies are stored for long periods of time, and can be accessed by national and international researchers to further their own studies and contribute to their understanding of the impact of a number of factors (e.g., environment, lifestyle) on common diseases and their progression. Part 2 of this Chapter discusses the nature of the researcher’s duty to inform, which is the result of an individualistic conception of autonomy. Parts 3 and 4 review this restrictive conception of autonomy, and concludes that it is rooted in a unilateral approach that is incongruous with the nature of biobank genomic research. Finally, Part 5 proposes that autonomy be complemented by the principle of reciprocity, which would not only create a fair and balanced relationship between researchers and participants, but would also recognize the public as a key contributor to genomic research.

Because children are presumed to have insufficient cognitive ability to consent to participate in research, pediatric research raises particular ethical and legal issues. For children who have not reached the age of consent stipulated by law or policy, parents (or legal guardians) must authorize their participation. This paper explores the issue of whether, to satisfy the ethical and legal norms of consent for research, participants in pediatric studies who attain the age of majority after their parents or guardians enrolled them in a study should be “recontacted” to obtain their consent to remain in the study. Using three different contexts (longitudinal studies, clinical trials, and newborn screening), we argue that distinctions should be made between the risks and benefits involved in recontacting for consent before determining the potential duties of researchers. An obligation to recontact should always be balanced with the feasibility and cost of such efforts in each particular research context and with consideration for the existence or lack of an ongoing relationship with the participant.

A Special Report in Collaboration with the Research Center for Islamic Legislation and Ethics

Autism spectrum disorder (ASD) is characterized by repetitive patterns of behaviour and impairments in social interactions and communication abilities. Although ASD is a heterogeneous disorder, it is a highly genetic condition for which genetic testing is routinely performed. Microarray analysis is currently the standard of care genetic test for ASD, however whole genome sequencing offers several key advantages and will likely replace microarrays as a frontline genetic test in the near future. The 2nd Consultation on Translation of Genomic Advances into Health Applications took place in the spring of 2014 to broadly explore the current and potential impacts of genomic advances in supporting personalized and family-centered care for autism and related developmental conditions. In anticipation of WGS becoming a standard of care test, we examine the policy landscape and highlight the lack of consistency among guidelines regarding what genomic information should be returned to patients and their families. We also discuss the need to create the infrastructure to share clinical WGS data with researchers in a systematic and ethically defensible manner.

The authors provide a comprehensive survey of international legislation and policies guiding the return of whole-genome-sequencing-based genetic testing results to patients or study participants, within the context of both clinical and research settings.

Edward S Dove, Ma’n H Zawati, 2014-2015 8-1 McGill Journal of Law and Health 79, 2015 CanLIIDocs 141

In an era of unrivalled sequencing, computation and networking capability, international sharing of genomic samples and data is becoming a modus operandi for modern medical research. Researchers are collaborating to establish large collections with global scale. Having never before set foot outside the cell, the molecules that shape us are being digitized and launched across the globe. Protecting individual privacy interests in this information is a central challenge of the genomic research era. This article reviews international privacy norms governing human genomic biobanks and databases. It will not directly consider biobanks established for other health-related purposes, such as screening or therapy. A genomic biobank is “a hybrid infrastructure,” an organized collection of human biological material combined with associated health information: physical measurements, outcome data in medical records, and epidemiological information, as well as genomic data derived from the samples.

Paediatric genomic research raises particularly challenging questions on whether and under what circumstances to return research results. In the paediatric context, decision-making is guided by the best interests of the child framework, as enshrined in the 1989 international Convention on the Rights of the Child. According to this Convention, rights and responsibilities are shared between children, parents, researchers, and the state. These "relational" obligations are further complicated in the context of genetic research.

Genomic researchers increasingly are faced with difficult decisions about whether, under what circumstances, and how to return research results and significant incidental findings to study participants. Many have argued that there is an ethical-maybe even a legal-obligation to disclose significant findings under some circumstances. At the international level, over the last decade there has begun to emerge a clear legal obligation to return significant findings discovered during the course of research. However, there is no explicit legal duty to disclose in the United States. This creates legal uncertainty that may lead to unmanaged variation in practice and poor quality care. This article discusses liability risks associated with the disclosure of significant research findings for investigators in the United States.

Purpose This article proposes recommendations for the use of whole-genome and whole-exome (WGS/WES) sequencing in clinical practice, endorsed by the board of directors of the Canadian College of Medical Geneticists. The publication of statements and recommendations by several international and national organisations on clinical WGS/WES has prompted a need for Canadianspecific guidance. Methods A multi-disciplinary group consisting of lawyers, ethicists, genetic researchers, and clinical geneticists was assembled to review existing guidelines on WGS/WES and identify provisions relevant to the Canadian context. Results Definitions were provided to orient the recommendations and to minimize confusion with other recommendations. Recommendations include the following: WGS/WES should be used in a judicious and cost-efficient manner; WGS/WES should be used to answer a clinical question; and physicians need to explain to adult patients the nature of the results that could arise, so as to allow them to make informed choices over whether to take the test and which results they wish to receive. Recommendations are also provided for WGS/WES in the pediatric context, and for when results implicate patients’ family members. Conclusion These recommendations are only a proposal to be developed into comprehensive Canadianbased guidelines. They aim to promote discussion about the reporting of WGS/WES results, and to encourage the ethical implementation of these new technologies in the clinical setting.

Section 12.2 of this chapter will discuss the duty to inform as enunciated in international normative documents that frame medical research. Although the duty to inform is often linked with the notion of consent, it should be noted that these two concepts are not synonymous, and should be considered as interrelated but ultimately separate. While consent is seen to crystallize the duty to inform, the latter encompasses a number of additional elements. These elements will be presented through a review of regional and national laws and regulations. In order to provide a concrete illustration of the principles examined in section 12.2, section 13.2 will examine how Canadian case law has dealt with the duty to inform in the context of research. Finally, section 12.4 will address the increasingly blurred lines between the clinical and research settings through a succinct overview of recent developments in genomic research. More precisely, this section will discuss emerging issues of liability that researchers face in the fulfillment of their duty to inform.

Genomics research is becoming increasingly globally connected and collaborative, contesting traditional ethical and legal boundaries between global and local research practice. As well, global data-driven genomics research holds great promise for health discoveries. Yet, paradoxically, current research ethics review systems around the world challenge potential improvements in human health from such research and thus undermine respect for research participants. Case reports illustrate that the current system is costly, fragmented, inefficient, inadequate, and inconsistent. There is an urgent need to improve the governance system of ethics review to enable secure and seamless genomic and clinical data sharing across jurisdictions.

Decision-making dynamics in pediatric research have their foundation in the principle of the ‘best interests of the child’. The introduction of new sequencing technologies and the concomitant debate surrounding the return of research results and incidental findings are, however, challenging the interpretation of this principle. A comparative analysis of international and national approaches to the issue (USA, Canada, France, Spain and the UK) reveals not only the emergence of context-specific pediatric policy in this regard, but one that is ‘personalized’ to the child – that is, what is clinically significant and actionable during childhood.

There are an increasing number of population studies collecting data and samples to illuminate gene-environment contributions to disease risk and health. The rising affordability of innovative technologies capable of generating large amounts of data helps achieve statistical power and has paved the way for new international research collaborations. Most data and sample collections can be grouped into longitudinal, disease-specific, or residual tissue biobanks, with accompanying ethical, legal, and social issues (ELSI). Issues pertaining to consent, confidentiality, and oversight cannot be examined using a one-size-fits-all approach—the particularities of each biobank must be taken into account. It remains to be seen whether current governance approaches will be adequate to handle the impact of next-generation sequencing technologies on communication with participants in population biobanking studies.

Managers of genomic biobanks constantly face ethical and legal challenges ranging from issues associated with the informed consent process to procedural concerns related to access by researchers. Yet, with the availability of next-generation sequencing technologies, one topic is emerging as the focus of ongoing debate: the return of individual research results and incidental findings to participants. This article examines this topic from an international perspective, where policies and guidelines discussing the matter in the context of genomic biobanks and genomic research are analyzed and commented. This approach aims to highlight the shortcomings of these international norms, mainly the danger arising from both the therapeutic misconception and the conflation of research results with incidental findings. This article suggests some elements to consider in order to complement available guidance at the international level.

Ma’n H Zawati, 2012 6-1 Revue de droit et santé de McGill 137, 2012 CanLIIDocs 24

In 2009, Time magazine named “biobanks” as one of the 10 ideas changing the world. These organized collections of human biological material and associated data have been identified as “vital research tools in the drive to uncover the consequences of human health and disease.” Since their inception, however, biobanks have faced ethical and legal challenges. Whether these pertain to informed consent, access by researchers, commercialization, confidentiality, or governance, biobanks must continue to address jurisdictional matters, operational difficulties, and normative frameworks that strive to stay abreast of current scientific innovation. Yet, with some biobanks now having completed their recruitment objectives and with research currently being performed on their data and samples, one topic has become the focus of ongoing debates: the return of research results to participants.