119 results

PUBLICATIONS

Journal Article
Ma Yuanchao, Achiche Sofiane, Pomey Marie-Pascale, Paquette Jesseca, Adjtoutah Nesrine, Vicente Serge, Engler Kim, MARVIN chatbots Patient Expert Committee, Laymouna Moustafa, Lessard David, Lemire Benoît, Asselah Jamil, Therrien Rachel, Osmanlliu Esli, Zawati Ma'n H, Joly Yann, Lebouché Bertrand. Adapting and Evaluating an AI-Based Chatbot Through Patient and Stakeholder Engagement to Provide Information for Different Health Conditions: Master Protocol for an Adaptive Platform Trial (the MARVIN Chatbots Study). JMIR Res Protoc. 2024;13:e54668. Available from: https://www.researchprotocols.org/2024/1/e54668

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

Journal Article
Haley Cassandra E., Zawati Ma’n H. Direct-to-Consumer Genetic Tests and Canadian Genetic Counselors: A Pilot Exploration of Professional Roles in Response to Novel Biotechnologies. Genes. 2024;15(2):156. Available from: https://www.mdpi.com/2073-4425/15/2/156

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.

Journal Article
Knoppers Bartha Maria, Chase Shane, Joly Yann, Zawati Ma’n, Thorogood Adrian. Responsible Processing and Sharing of Genomic Data: Bringing Health Technologies Industries to the Table. The American Journal of Bioethics. 2023;23(11):33-35. Available from: https://www.tandfonline.com/doi/full/10.1080/15265161.2023.2256254
Journal Article
Rothstein Mark A., Patrinos Dimitri, Brothers Kyle B., Clayton Ellen Wright, Joly Yann, Zawati Ma'n H., Andanda Pamela, Arawi Thalia, Castañeda Mireya, Chalmers Don, Chen Haidan, Ghaly Mohammed, Hatanaka Ryoko, Hendriks Aart C., Ho Calvin W.L., Kaye Jane, Krekora-Zaj?c Dorota, Lee Won Bok, Mattsson Titti, Nicolás Pilar, Nnamuchi Obiajulu, Rial-Sebbag Emmanuelle, Siegal Gil, Wathuta Jane M., Knoppers Bartha Maria. Concordance of International Regulation of Pediatric Health Research. The Journal of Pediatrics. 2023;260:113524. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022347623003724
Journal Article
Moreno Palmira Granados, Knoppers Terese, Zawati Ma’n H., Lang Michael, Knoppers Bartha M., Wolfson Michael, Nabi Hermann, Dorval Michel, Simard Jacques, Joly Yann. Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context. Hum Genet. 2023;142(7):981-994. Available from: https://link.springer.com/10.1007/s00439-023-02576-8

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.

Journal Article
Yoo S, Garg E, Elliott Lt, Hung Rj, Halevy Ar, Brooks Jd, Bull Sb, Gagnon F, Greenwood Cmt, Lawless Jf, Paterson Ad, Sun L, Zawati Mh, Lerner-Ellis J, Abraham Rjs, Birol I, Bourque G, Garant J-M, Gosselin C, Li J, Whitney J, Thiruvahindrapuram B, Herbrick J-A, Lorenti M, Reuter Ms, Adeoye Oo, Liu S, Allen U, Bernier Fp, Biggs Cm, Cheung Am, Cowan J, Herridge M, Maslove Dm, Modi Bp, Mooser V, Morris Sk, Ostrowski M, Parekh Rs, Pfeffer G, Suchowersky O, Taher J, Upton J, Warren Rl, Yeung Rsm, Aziz N, Turvey Se, Knoppers Bm, Lathrop M, Jones Sjm, Scherer Sw, Strug Lj. HostSeq: a Canadian whole genome sequencing and clinical data resource. BMC Genom Data. 2023;24(1):26. Available from: https://bmcgenet.biomedcentral.com/articles/10.1186/s12863-023-01128-3

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.

Journal Article
Yoo S, Garg E, Elliott Lt, Hung Rj, Halevy Ar, Brooks Jd, Bull Sb, Gagnon F, Greenwood Cmt, Lawless Jf, Paterson Ad, Sun L, Zawati Mh, Lerner-Ellis J, Abraham Rjs, Birol I, Bourque G, Garant J-M, Gosselin C, Li J, Whitney J, Thiruvahindrapuram B, Herbrick J-A, Lorenti M, Reuter Ms, Adeoye Oo, Liu S, Allen U, Bernier Fp, Biggs Cm, Cheung Am, Cowan J, Herridge M, Maslove Dm, Modi Bp, Mooser V, Morris Sk, Ostrowski M, Parekh Rs, Pfeffer G, Suchowersky O, Taher J, Upton J, Warren Rl, Yeung Rsm, Aziz N, Turvey Se, Knoppers Bm, Lathrop M, Jones Sjm, Scherer Sw, Strug Lj. HostSeq: a Canadian whole genome sequencing and clinical data resource. BMC Genom Data. 2023;24(1):26. Available from: https://bmcgenet.biomedcentral.com/articles/10.1186/s12863-023-01128-3

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.

Journal Article
Kallesoe Sarah A. Savic, Rabbani Tian, Gill Erin E., Brinkman Fiona, Griffiths Emma J., Zawati Ma'n, Liu Hanshi, Palmour Nicole, Joly Yann, Hsiao William W. L. Canadians’ opinions towards COVID-19 data-sharing: a national cross-sectional survey. BMJ Open. 2023;13(2):e066418. Available from: https://bmjopen.bmj.com/content/13/2/e066418

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.

Journal Article
Lang Michael, McKibbin Kyle, Shabani Mahsa, Borry Pascal, Gautrais Vincent, Verbeke Kamiel, Zawati Ma’n H. Crowdsourcing smartphone data for biomedical research: Ethical and legal questions. DIGITAL HEALTH. 2023;9:20552076231204428. Available from: http://journals.sagepub.com/doi/10.1177/20552076231204428

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.

Journal Article
Patrinos Dimitri, Ghaly Mohammed, Al-Shafai Mashael, Zawati Ma’n H. Legal approaches to risk of harm in genetic counseling: perspectives from Quebec and Qatar. Frontiers in Genetics. 2023;14 Available from: https://www.frontiersin.org/articles/10.3389/fgene.2023.1190421

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.

Journal Article
Lang Michael, Zawati Ma’n. Online Therapeutic Portals for Sharing Health Research: Comparative Guidance amid Regulatory Uncertainty. bioethics. 2023;6(2):66-75. Available from: https://www.erudit.org/fr/revues/bioethics/2023-v6-n2-bioethics08159/1101129ar/

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.

Book Section
Patrinos Dimitri, Lang Michael, Zawati Ma'n H. Data governance. In: Mccormick, Jennifer B.; Pathak, Jyotishman, editors. Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine. 1st edition. Academic Press; 2022. p. 203-214. Available from: https://doi.org/10.1016/B978-0-12-819803-2.00002-X
Journal Article
Longstaff Holly, Flamenbaum Jaime, Richer Etienne, Egar Jeanne, McMaster Christopher R., Zawati Ma’n H. Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy. CMAJ. 2022;194(44):E1500-E1508. Available from: http://www.cmaj.ca/lookup/doi/10.1503/cmaj.212063
Journal Article
Trost Brett, Thiruvahindrapuram Bhooma, Chan Ada J. S., Engchuan Worrawat, Higginbotham Edward J., Howe Jennifer L., Loureiro Livia O., Reuter Miriam S., Roshandel Delnaz, Whitney Joe, Zarrei Mehdi, Bookman Matthew, Somerville Cherith, Shaath Rulan, Abdi Mona, Aliyev Elbay, Patel Rohan V., Nalpathamkalam Thomas, Pellecchia Giovanna, Hamdan Omar, Kaur Gaganjot, Wang Zhuozhi, MacDonald Jeffrey R., Wei John, Sung Wilson W. L., Lamoureux Sylvia, Hoang Ny, Selvanayagam Thanuja, Deflaux Nicole, Geng Melissa, Ghaffari Siavash, Bates John, Young Edwin J., Ding Qiliang, Shum Carole, D'Abate Lia, Bradley Clarrisa A., Rutherford Annabel, Aguda Vernie, Apresto Beverly, Chen Nan, Desai Sachin, Du Xiaoyan, Fong Matthew L. Y., Pullenayegum Sanjeev, Samler Kozue, Wang Ting, Ho Karen, Paton Tara, Pereira Sergio L., Herbrick Jo-Anne, Wintle Richard F., Fuerth Jonathan, Noppornpitak Juti, Ward Heather, Magee Patrick, Baz Ayman Al, Kajendirarajah Usanthan, Kapadia Sharvari, Vlasblom Jim, Valluri Monica, Green Joseph, Seifer Vicki, Quirbach Morgan, Rennie Olivia, Kelley Elizabeth, Masjedi Nina, Lord Catherine, Szego Michael J., Zawati Ma'n H., Lang Michael, Strug Lisa J., Marshall Christian R., Costain Gregory, Calli Kristina, Iaboni Alana, Yusuf Afiqah, Ambrozewicz Patricia, Gallagher Louise, Amaral David G., Brian Jessica, Elsabbagh Mayada, Georgiades Stelios, Messinger Daniel S., Ozonoff Sally, Sebat Jonathan, Sjaarda Calvin, Smith Isabel M., Szatmari Peter, Zwaigenbaum Lonnie, Kushki Azadeh, Frazier Thomas W., Vorstman Jacob A. S., Fakhro Khalid A., Fernandez Bridget A., Lewis M. E. Suzanne, Weksberg Rosanna, Fiume Marc, Yuen Ryan K. C., Anagnostou Evdokia, Sondheimer Neal, Glazer David, Hartley Dean M., Scherer Stephen W. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022;185(23):4409-4427.e18. Available from: https://www.cell.com/cell/abstract/S0092-8674(22)01324-1
Journal Article
Lang Michael, Zawati Ma’n H. Returning individual research results in international direct-to-participant genomic research: results from a 31-country study. Eur J Hum Genet. 2022;30:1132–1137. Available from: https://www.nature.com/articles/s41431-022-01103-z

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.

Journal Article
Song Lingqiao, Liu Hanshi, Brinkman Fiona S. L, Gill Erin, Griffiths Emma J., Hsiao William W. L, Savi?-Kallesøe Sarah, Moreira Sandrine, Van Domselaar Gary, Zawati Ma’n H., Joly Yann. Addressing Privacy Concerns in Sharing Viral Sequences and Minimum Contextual Data in a Public Repository During the COVID-19 Pandemic. Front. Genet.. 2022;12:716541. Available from: https://www.frontiersin.org/articles/10.3389/fgene.2021.716541/full

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.

Journal Article
Rothstein Mark A., Zawati Ma’n H., Thorogood Adrian, Beauvais Michael J. S., Joly Yann, Brothers Kyle B., Lang Michael, Andanda Pamela, Ho Calvin, Isasi Rosario, Kaye Jane, Lee Won Bok, Nnamuchi Obiajulu, Saltzman Andrea, Knoppers Bartha Maria. Streamlining ethics review for international health research. Science. 2022;375(6583):825-826. Available from: https://www.science.org/doi/full/10.1126/science.abn0675

Single-site review means protection and efficiency

Journal Article
Lambert Deborah M., Patrinos Dimitri, Knoppers Bartha Maria, GenCOUNSEL Study, Zawati Ma’n H. Genetic counselors and legal recognition: A made?for?Canada approach. Journal of Genetic Counseling. 2022;31(1):49-58. Available from: https://onlinelibrary.wiley.com/doi/10.1002/jgc4.1468

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.

Journal Article
Longstaff Holly, Flamenbaum Jaime, Richer Etienne, Egar Jeanne, McMaster Christopher R, Zawati Ma'n H. Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy. CMAJ : Canadian Medical Association Journal. 2022;194(44):9. Available from: https://www.cmaj.ca/content/194/44/E1500
Book
Zawati M.H. Reciprocity in Population Biobanks. Elsevier; 2022. Available from: https://linkinghub.elsevier.com/retrieve/pii/C20200041629
Report
Joly Yann, Liu Hanshi, Zawati Ma'n H. CanCOGeN Pan-Canadian Experience in Data Sharing: Lessons Learned and Recommendations for the Road Ahead. Ottawa: Genome Canada; 2022. Available from: https://www.genomicsandpolicy.org/Ressources/2022_LessonsLearnedFinal.pdf
Journal Article
Al-Hussaini Maysa, Mansour Asem H., Arawi Thalia A., Zawati Ma'n H., Morreim Haavi. Editorial: Bioethics Amidst the COVID-19 Pandemic. Front. Med.. 2021;8:778146. Available from: https://www.frontiersin.org/articles/10.3389/fmed.2021.778146/full
Journal Article
Lang Michael, Lemieux Sébastien, Hébert Josée, Sauvageau Guy, Zawati Ma'n H. Legal and Ethical Considerations for the Design and Use of Web Portals for Researchers, Clinicians, and Patients: Scoping Literature Review. Journal of Medical Internet Research. 2021;23(11):e26450. Available from: https://www.jmir.org/2021/11/e26450

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.

Journal Article
Marwa Bilal, Krueger Joerg, Stephenson Elizabeth A., Davidson Scott, Allan David, Knoppers Bartha, Zawati Ma'n, Sullivan Patrick, Shlien Adam, Malkin David, Fernandez Conrad V., Villani Anita. Ethical and Analytic Challenges With Genomic Sequencing of Relapsed Hematologic Malignancies Following Allogeneic Hematopoietic Stem-Cell Transplantation. JCO Precision Oncology. 2021;(5):1339-1347. Available from: https://ascopubs.org/doi/10.1200/PO.20.00489

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.

Journal Article
Joly Yann, Huerne Katherine, Arych Mykhailo, Bombard Yvonne, De Paor Aisling, Dove Edward S., Granados Moreno Palmira, Ho Calvin W.L., Ho Chih-Hsing, Van Hoyweghen Ine, Kim Hannah, Lebret Audrey, Minssen Timo, Ó. Cathaoir Katharina, Prince Anya E.R., Nair Athira P.S., Otlowski Margaret, Pepper Michael S., Sladek Rob, Song Lingqiao, Voigt Torsten H., Zawati Ma’n H., Dalpe Gratien. The Genetic Discrimination Observatory: confronting novel issues in genetic discrimination. Trends in Genetics. 2021;37(11):951-954. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0168952521002286
Journal Article
Luu Judy M., Sergeant Anand K., Anand Sonia S., Desai Dipika, Schulze Karleen, Knoppers Bartha M., Zawati Ma’n H., Smith Eric E., Moody Alan R., Black Sandra E., Larose Eric, Marcotte Francois, Kleiderman Erika, Tardif Jean-Claude, Lee Douglas S., Friedrich Matthias G., Anand S., Friedrich M., Tu J., Awadalla P., Dummer T., Vena J., Broet P., Hicks J., Tardif J.-C., Teo K., Knoppers B.-M., Desai D., Nandakumar S., Thomas M., Zafar S., Schulze K., Dyal L., Casanova A., Bangdiwala S., Ramasundarahettige C., Ramakrishnana K., Ibrahim Q., Desai D., Truchon H., Tusevljak N., McDonald K., Noisel N., Chu J., Hicks J., Whelan H., Rangarajan S., Busseuil D., Leipsic J., Lear S., de Jong V., Noseworthy M., Teo K., Ramezani E., Konyer N., Poirier P., Bourlaud A.-S., Larose E., Bibeau K., Leipsic J., Lear S., de Jong V., Smith E., Frayne R., Charlton A., Sekhon R., Moody A., Thayalasuthan V., Kripalani A., Leung G., Noseworthy M., Anand S., de Souza R., Konyer N., Zafar S., Paraga G., Reid L., Dick A., Ahmad F., Kelton D., Shah H., Marcotte F., Poiffaut H., Friedrich M., Lebel J., Larose E., Bibeau K., Miller R., Parker L., Thompson D., Hicks J., Tardif J.-C., Poiffaut H., Tu J., Chan K., Moody A., Thayalasuthan V., Friedrich M., Smith E., McCreary C., Black S. E., Scott C., Batool S., Gao F., Moody A., Thayalasuthan V., Larose E., Bibeau K., Marcotte F., Henriques F., Rouleau Jean, Boyle Pierre, Wong Caroline, Smith Eldon, Reid Bob, Janssen Ian, Subar Amy, Touyz Rhian, the CAHHM Study Investigators. The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort. BMC Medical Ethics. 2021;22(1):145. Available from: https://doi.org/10.1186/s12910-021-00706-3

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.

Journal Article
Vodosin Pierre, Jorgensen Ann Katheryn, Mendy Maimuna, Kozlakidis Zisis, Caboux Elodie, Zawati Ma'n H. A Review of Regulatory Frameworks Governing Biobanking in the Low and Middle Income Member Countries of BCNet. Biopreservation and Biobanking. 2021;19(5):444-452. Available from: https://www.liebertpub.com/doi/full/10.1089/bio.2020.0101

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.

Journal Article
Tremblay Karine, Rousseau Simon, Zawati Ma’n H., Auld Daniel, Chassé Michaël, Coderre Daniel, Falcone Emilia Liana, Gauthier Nicolas, Grandvaux Nathalie, Gros-Louis François, Jabet Carole, Joly Yann, Kaufmann Daniel E., Laprise Catherine, Larochelle Catherine, Maltais François, Mes-Masson Anne-Marie, Montpetit Alexandre, Piché Alain, Richards J. Brent, Tse Sze Man, Turgeon Alexis F., Turecki Gustavo, Vinh Donald C., Wang Han Ting, Mooser Vincent, on behalf of BQC19. The Biobanque québécoise de la COVID-19 (BQC19)—A cohort to prospectively study the clinical and biological determinants of COVID-19 clinical trajectories. PLoS ONE. 2021;16(5):e0245031. Available from: https://dx.plos.org/10.1371/journal.pone.0245031

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.

Journal Article
Wu Yanting, Marc Isabelle, Bouchard Luigi, Ouyang Fengxiu, Luo Zhong-Cheng, Fan Jianxia, Dubois Lise, Mâsse Benoît, Zhang Jun, Leung Peter C. K., Liao Xiang Peng, Herba C. M., Booij Linda, Shen Jian, Lewin Antoine, Jiang Hong, Wang Liping, Xu Jian, Wu Weibin, Sun Wenguang, Wu Jiahao, Li Hong, Lei Chen, Kozyrskyj Anita, Semenic Sonia, Chaillet N., Fortier Isabel, Masse Louise, Zhan Janelle, Allard Catherine, Knoppers Bartha, Zawati Ma'n, Baillargeon Jean-Patrice, Velez Maria P., Zhang Hanqiu, Yu Yamei, Yu Wen, Ding Yan, Vaillancourt Caroline, Liu Han, Tetu Amelie, Fang Wenli, Zhang Rong, Zhao Xinzhi, Jin Yan, Liu Xin-Mei, Zhang Huijuan, Chen Zhirou, Yang Xi, Hao Yan-Hui, Abdelouahab Nadia, Fraser William, Huang He-Feng. Study protocol for the Sino-Canadian Healthy Life Trajectories Initiative (SCHeLTI): a multicentre, cluster-randomised, parallel-group, superiority trial of a multifaceted community-family-mother-child intervention to prevent childhood overweight and obesity. BMJ Open. 2021;11(4):e045192.

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).

Journal Article
Beauvais Michael J. S., Thorogood Adrian M., Szego Michael J., Sénécal Karine, Zawati Ma'n H., Knoppers Bartha Maria. Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility. Front. Genet.. 2021;12:535340. Available from: https://www.frontiersin.org/articles/10.3389/fgene.2021.535340/full

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.

Journal Article
Al-Hussaini Maysa, Mansour Asem H., Arawi Thalia A., Zawati Ma'n H., Morreim Haavi. Editorial: Bioethics Amidst the COVID-19 Pandemic. Frontiers in Medicine. 2021;8 Available from: https://www.frontiersin.org/articles/10.3389/fmed.2021.778146
Journal Article
Dimitri Patrinos, Roxanne Caron, Bartha Maria Knoppers, M'an H Zawati. Genetic Counsellors, Legal Recognition, and the Road Less Travelled. McGill Journal of Law and Health. 2020;14(1) Available from: https://mjlh.mcgill.ca/genetic-counsellors-legal-recognition-and-the-road-less-travelled/

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

Book Section
Pastorino Roberta, Lang Michael, Zawati Ma’n H., Calabrò Giovanna Elisa, Hoxhaj Ilda, Houwink Elisa J. F., Sassano Michele, Boccia Stefania. Ethico-legal and Policy Issues Surrounding Personalised Medicine. In: Boccia, Stefania; Ádány, Róza; Villari, Paolo; Cornel, Martina C.; De Vito, Corrado; Pastorino, Roberta, editors. Personalised Health Care: Fostering Precision Medicine Advancements for Gaining Population Health Impact. Cham: Springer International Publishing; 2020. p. 57-76. Available from: https://doi.org/10.1007/978-3-030-52399-2_4

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.

Journal Article
Zawati Ma'n, Lang Michael. What’s in the Box?: Uncertain Accountability of Machine Learning Applications in Healthcare. The American Journal of Bioethics. 2020;20(11):37-40. Available from: https://doi.org/10.1080/15265161.2020.1820105
Journal Article
Knoppers Bartha Maria, Beauvais Michael J S, Joly Yann, Zawati Ma'n H, Rousseau Simon, Chassé Michaël, Mooser Vincent. Modeling consent in the time of COVID-19. Journal of Law and the Biosciences. 2020;7(1):lsaa020. Available from: https://doi.org/10.1093/jlb/lsaa020

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.

Journal Article
Barnes Rebecca, Votova Kristine, Rahimzadeh Vasiliki, Osman Noura, Penn Andrew M., Zawati Ma'n H., Knoppers Bartha M. Biobanking for Genomic and Personalized Health Research: Participant Perceptions and Preferences. Biopreservation and Biobanking. 2020;18(3):204-212. Available from: https://www.liebertpub.com/doi/10.1089/bio.2019.0090

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.

Journal Article
Pinkesz Miriam, Marrocco Gabriel, Joly Yann, Zawati Ma’n H. Re-examining the Canadian law of informed consent to medical treatment in the age of informatics. Informed Consent and Health. 2020;:32-73. Available from: https://www.elgaronline.com/view/edcoll/9781788973410/9781788973410.00009.xml

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.

Journal Article
Lang Michael, Knoppers Bartha Maria, Zawati Ma’n H. International mHealth Research: Old Tools and New Challenges. J Law Med Ethics. 2020;48(1_suppl):178-186. Available from: https://doi.org/10.1177/1073110520917045

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.

Journal Article
Martinent E., Zawati M. Le virage numérique comme vecteur d’égalité (territoriale) en santé (I). Ethics Med Public Health. 2020;15:100593. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533635/
Journal Article
Unim Brigid, De Vito Corrado, Hagan Julie, Villari Paolo, Knoppers Bartha Maria, Zawati Ma’n. The Provision of Genetic Testing and Related Services in Quebec, Canada. Frontiers in Genetics. 2020;11:127. Available from: https://www.frontiersin.org/article/10.3389/fgene.2020.00127

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.

Journal Article
Zawati Ma'n H, Lang Michael. Mind the App: Considerations for the Future of Mobile Health in Canada. JMIR Mhealth Uhealth. 2019;7(11):e15301. Available from: https://mhealth.jmir.org/2019/11/e15301

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.

Journal Article
Knoppers Bartha Maria, Thorogood Adrian, Zawati Ma’n H. Letter: Relearning the 3 R’s? Reinterpretation, recontact, and return of genetic variants. Genet Med. 2019;21(10):2401-2402. Available from: https://www.nature.com/articles/s41436-019-0494-1
Book Section
Zawati Ma'n H. Chapitre 8: La responsabilité civile des conseillers en génétique. In: Bourassa-Forcier, Melanie; Savard, Anne-Marie, editors. Droit de la Sante. LexisNexis Canada; 2019. p. 337-393. Available from: https://www.researchgate.net/publication/335243823_Chapitre_8_La_responsabilite_civile_des_conseillers_en_genetique
Journal Article
Zawati Ma’n H., Knoppers Bartha Maria. Reciprocity and the Quest for Meaningful Disclosure. The American Journal of Bioethics. 2019;19(5):36-38. Available from: https://www.tandfonline.com/doi/full/10.1080/15265161.2019.1587547
Journal Article
Rothstein Mark A., Zawati Ma'n H., Knoppers Bartha Maria. Regulatory Landscape of International Direct-to-Participant (DTP) Genomic Research: Time to Untie the Gordian Knot?. J. Law. Med. Ethics. 2019;47(2):336-341. Available from: https://www.cambridge.org/core/product/identifier/S1073110500022300/type/journal_article
Journal Article
Zawati Ma'n H. Introduction to the Country Reports. J. Law. Med. Ethics. 2019;47(4):581-581. Available from: https://www.cambridge.org/core/product/identifier/S1073110500025924/type/journal_article
Journal Article
Zawati Ma'n H., Chalmers Don, Dallari Sueli G., de Neiva Borba Marina, Pinkesz Miriam, Joly Yann, Chen Haidan, Hartlev Mette, Leitsalu Liis, Soini Sirpa, Rial-Sebbag Emmanuelle, Hoppe Nils, Garani-Papadatos Tina, Vidalis Panagiotis, Srinivas Krishna Ravi, Siegal Gil, Negri Stefania, Hatanaka Ryoko, Al-Hussaini Maysa, Al-Tabba' Amal, Motta-Murgía Lourdes, Moran Laura Estela Torres, Hendriks Aart, Nnamuchi Obiajulu, Isasi Rosario, Krekora-Zajac Dorota, Sadoun Eman, Ho Calvin, Andanda Pamela, Lee Won Bok, Nicolás Pilar, Mattsson Titti, Talanova Vladislava, Dosch Alexandre, Sprumont Dominique, Fan Chien-Te, Hung Tzu-Hsun, Nnamuchi Obiajulu, Kaye Jane, Phillips Andelka, Gowans Heather, Shah Nisha, Hazel James W. Country Reports. J. Law. Med. Ethics. 2019;47(4):582-704. Available from: https://www.cambridge.org/core/product/identifier/S1073110500025936/type/journal_article
Journal Article
Boccia Stefania, Pastorino Roberta, Ricciardi Walter, Ádány Róza, Barnhoorn Floris, Boffetta Paolo, Cornel Martina C., De Vito Corrado, Gray Muir, Jani Anant, Lang Michael, Roldan Jim, Rosso Annalisa, Sánchez José Manuel, Van Dujin Cornelia M., Van El Carla G., Villari Paolo, Zawati Ma’n H. How to Integrate Personalized Medicine into Prevention? Recommendations from the Personalized Prevention of Chronic Diseases (PRECeDI) Consortium. Public Health Genomics. 2019;22(5-6):208-214. Available from: https://www.karger.com/Article/FullText/504652
Journal Article
Rothstein Mark A., Zawati Ma'n H., Beskow Laura M., Brelsford Kathleen M., Brothers Kyle B., Hammack-Aviran Catherine M., Hazel James W., Joly Yann, Lang Michael, Patrinos Dimitri, Saltzman Andrea, Knoppers Bartha Maria. Legal and Ethical Challenges of International Direct-to-Participant Genomic Research: Conclusions and Recommendations. J. Law. Med. Ethics. 2019;47(4):705-731. Available from: https://www.cambridge.org/core/product/identifier/S1073110500025948/type/journal_article
Journal Article
Bouthillier Daniel, Zawati Ma'n H, Joly Yann. Personalised Medicine–Introduction to the Technology. Lexis Nexis, LexisPSL practice note. 2019; Available from: https://www.lexisnexis.co.uk/legal/guidance/personalised-medicine-introduction-to-the-technology
Journal Article
Thorogood A., Bernier A., Zawati M., Knoppers B. A Legal Duty of Genetic Recontact in Canada. Health Law in Canada. 2019; Available from: https://www.semanticscholar.org/paper/A-Legal-Duty-of-Genetic-Recontact-in-Canada-Thorogood-Bernier/7085af0b4c07619f6f72e0ed3...

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.

Magazine Article
Zawati Ma'n H. Will an App a Day Keep the Doctor Away?. Brainstorm Magazine 1. 2019;:29-29. Available from: https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3438302
Journal Article
Dummer Trevor J.B., Awadalla Philip, Boileau Catherine, Craig Camille, Fortier Isabel, Goel Vivek, Hicks Jason M.T., Jacquemont Sébastien, Knoppers Bartha Maria, Le Nhu, McDonald Treena, McLaughlin John, Mes-Masson Anne-Marie, Nuyt Anne-Monique, Palmer Lyle J., Parker Louise, Purdue Mark, Robson Paula J., Spinelli John J., Thompson David, Vena Jennifer, Zawati Ma’n, with the CPTP Regional Cohort Consortium. The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention. CMAJ. 2018;190(23):E710-E717. Available from: http://www.cmaj.ca/lookup/doi/10.1503/cmaj.170292
Journal Article
Zawati Ma'n H., Tassé Anne Marie, Mendy Maimuna, Caboux Elodie, Lang Michael, on Behalf of Biobank and Cohort Building Network Members. Barriers and Opportunities in Consent and Access Procedures in Low- and Middle-Income Country Biobanks: Meeting Notes from the BCNet Training and General Assembly. Biopreservation and Biobanking. 2018;16(3):171-178. Available from: http://www.liebertpub.com/doi/10.1089/bio.2017.0081
Journal Article
Lang Michael, Zawati Ma’n H. The app will see you now: mobile health, diagnosis, and the practice of medicine in Quebec and Ontario. Journal of Law and the Biosciences. 2018;5(1):142-173. Available from: https://academic.oup.com/jlb/article/5/1/142/4936605
Journal Article
Zawati Ma'n H, Joly Yann, Knoppers B.M. L’autonomie basée sur l’individualisme libéral : les limites dans le contexte des biobanques populationnelles. Political Science. 2018; Available from: https://www.semanticscholar.org/paper/L%E2%80%99autonomie-bas%C3%A9e-sur-l%E2%80%99individualisme-lib%C3%A9ral-%3A-le-Zawati/...
Journal Article
Kleiderman Erika, Pack Amy, Borry Pascal, Zawati Ma’n. The author who wasn’t there? Fairness and attribution in publications following access to population biobanks. PLoS ONE. 2018;13(3):e0194997. Available from: https://dx.plos.org/10.1371/journal.pone.0194997
Report
Kirby E, Tasse A.M, Zawati M, Knoppers B.M. Data Access and Sharing by Researchers in Genomics. Montreal, Canada: 2018. Available from: https://www.researchgate.net/publication/324121950_DATA_ACCESS_AND_SHARING_BY_RESEARCHERS_IN_GENOMICS-POLICY_BRIEF
Report
Kirby E, Tasse A.M, Zawati M, Knoppers B.M. L’accès et le partage de l’information par les chercheurs en génomique. Montreal, Canada: 2018. Available from: https://www.genomequebec.com/DATA/PUBLICATION/35_fr~v~Lacces_et_le_partage_de_linformation_par_les_chercheurs_en_genomique_-_...
Journal Article
Moore Sarah, Tassé Anne-Marie, Thorogood Adrian, Winship Ingrid, Zawati Ma'n, Doerr Megan. Consent Processes for Mobile App Mediated Research: Systematic Review. JMIR Mhealth Uhealth. 2017;5(8):e126. Available from: http://mhealth.jmir.org/2017/8/e126/
Journal Article
Zawati Ma’n H., Lang Michael. Biobank donors and the concept of benefit: time for reciprocity. Journal of Law and the Biosciences. 2017;4(2):371-376. Available from: http://academic.oup.com/jlb/article/4/2/371/3897150/Biobank-donors-and-the-concept-of-benefit-time-for
Journal Article
Pupavac Mihaela, Zawati Ma'n H., Rosenblatt David S. A RaDiCAL gene hunt. Journal of Taibah University Medical Sciences. 2017;12(3):194-198. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1658361216301470

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.

Book Section
Zawati Ma’n H., Knoppers Bartha Maria. Population Biobanks and the Principle of Reciprocity. In: Hainaut, Pierre; Vaught, Jim; Zatloukal, Kurt; Pasterk, Markus, editors. Biobanking of Human Biospecimens: Principles and Practice. Springer International Publishing; 2017. p. 99-109. Available from: https://doi.org/10.1007/978-3-319-55120-3_6

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.

Journal Article
Knoppers Bartha Maria, Sénécal Karine, Boisjoli Joanne, Borry Pascal, Cornel Martina C., Fernandez Conrad V., Grewal Jasjote, Holm Ingrid A., Nelson Erin, Pinxten Wim, Shabani Mahsa, Tassé Anne Marie, Zawati Ma’n, Clayton Wright. Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. IRB. 2016;38(6):1-9. Available from: https://pubmed.ncbi.nlm.nih.gov/30088377/

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.

Journal Article
Knoppers Bartha Maria, Nguyen Minh Thu, Sénécal Karine, Tassé Anne Marie, Zawati Ma’n H. Next-Generation Sequencing and the Return of Results. Cold Spring Harb Perspect Med. 2016;6(10):a026724. Available from: http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/cshperspect.a026724
Journal Article
Salman Shahad, Vardatsikos George, Avard Denise, Palmour Nicole, Dewar Ken, Zawati Ma'n H. FMT Happens: Regulating Fecal Microbiota Therapy in Canada; What You Need to Know: Regulating FMT in Canada. World Medical & Health Policy. 2016;8(1):95-106. Available from: https://onlinelibrary.wiley.com/doi/10.1002/wmh3.174
Journal Article
Szego Michael J., Zawati Ma'n H. Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again. J Can Acad Child Adolesc Psychiatry. 2016;25(2):116-121. Available from: https://pubmed.ncbi.nlm.nih.gov/27274747/

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.

Book Section
Clayton Ellen Wright, Zawati Ma’n. Legal Aspects of Health Applications of Genomics. In: Dhavendra, Kumar; Chadwick, Ruth, editors. Genomics and Society. Elsevier; 2016. p. 119-133. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780124201958000069
Report
Ghaly M, Sadoun E, Alkuraya F, Fakhro K, Zawati M.H, Ismail S, Ben-Omran T. Genomics in the Gulf Region and Islamic Ethics. 2016. Available from: https://www.wish.org.qa/reports/genomics-in-the-gulf-region-and-islamic-ethics/

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

Journal Article
Knoppers Bartha Maria, Zawati Ma'n H., Sénécal Karine. Return of genetic testing results in the era of whole-genome sequencing. Nat Rev Genet. 2015;16(9):553-559. Available from: https://www.nature.com/articles/nrg3960

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.

Journal Article
Zawati Ma'n H, Junker Anne, Knoppers Bartha Maria, Rahimzadeh Vasiliki. Streamlining review of research involving humans: Canadian models: Table 1. J Med Genet. 2015;52(8):566-569. Available from: https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102640
Journal Article
Bertier Gabrielle, Zawati Ma'n H., Joly Yann. The Role of Whole Genome and Whole Exome Sequencing in Preventive Genomic Sequencing Programs. The American Journal of Bioethics. 2015;15(7):22-24. Available from: http://www.tandfonline.com/doi/full/10.1080/15265161.2015.1039732
Journal Article
Boycott Kym, Hartley Taila, Adam Shelin, Bernier Francois, Chong Karen, Fernandez Bridget A, Friedman Jan M, Geraghty Michael T, Hume Stacey, Knoppers Bartha M, Laberge Anne-Marie, Majewski Jacek, Mendoza-Londono Roberto, Meyn M Stephen, Michaud Jacques L, Nelson Tanya N, Richer Julie, Sadikovic Bekim, Skidmore David L, Stockley Tracy, Taylor Sherry, van Karnebeek Clara, Zawati Ma'n H, Lauzon Julie, Armour Christine M. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet. 2015;52(7):431-437. Available from: https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-103144
Journal Article
Zawati Ma'n H, Thorogood Adrian. The Physician Who Knew Too Much: A comment on Watters v White. Health Law Journal. 2015;21(1) Available from: https://www.researchgate.net/publication/280732685_The_Physician_Who_Knew_Too_Much_A_Comment_on_Watters_v_White
Journal Article
Zawati Ma'n, Cohen Eliza, Parry David, Avard Denise, Syncox David. Ethics education for clinician–researchers in genetics: The combined approach. Applied & Translational Genomics. 2015;4:16-20. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2212066114000453
Journal Article
Dove Edward S., Zawati Ma’n H. Amendments to the Civil Code of Québec’s Research Provisions: A Legislative Comment. McGill Journal of Law and Health. 2015;8(1):79. Available from: https://www.canlii.org/en/commentary/doc/2015CanLIIDocs141#!fragment//BQCwhgziBcwMYgK4DsDWszIQewE4BUBTADwBdoByCgSgBpltTCIBFRQ...

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

Journal Article
Thorogood Adrian, Zawati Ma'n H. International Guidelines for Privacy in Genomic Biobanking (or the Unexpected Virtue of Pluralism). J. Law. Med. Ethics. 2015;43(4):690-702. Available from: https://www.cambridge.org/core/product/identifier/S1073110500019070/type/journal_article

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.

Journal Article
Zawati Ma’n H., Parry David, Knoppers Bartha Maria. The best interests of the child and the return of results in genetic research: international comparative perspectives. BMC Medical Ethics. 2014;15(1):72. Available from: https://doi.org/10.1186/1472-6939-15-72

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.

Journal Article
Thorogood Adrian, Zawati Ma'n, Knoppers Bartha. Point-of-Care Genetic Tests for Infectious Disease: Legal Considerations. CPPM. 2014;12(1):43-50. Available from: http://www.eurekaselect.com/openurl/content.php?genre=article&issn=1875-6921&volume=12&issue=1&spage=43
Journal Article
Knoppers Bartha Maria, Zawati Ma'n H., Cohen Eliza. Special Issue — From Biobanks to the Clinic. Applied & Translational Genomics. 2014;3(2):21-22. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2212066114000040
Journal Article
McGuire Amy L., Knoppers Bartha Maria, Zawati Ma'n H., Clayton Ellen Wright. Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings. Genome Res. 2014;24(5):719-723. Available from: https://genome.cshlp.org/content/24/5/719.short

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.

Journal Article
Dove Edward S., Knoppers Bartha M., Zawati Ma'n H. Towards an ethics safe harbor for global biomedical research. Journal of Law and the Biosciences. 2014;1(1):3-51. Available from: http://academic.oup.com/jlb/article/1/1/3/803092/Towards-an-ethics-safe-harbor-for-global
Journal Article
Caulfield Timothy, Burningham Sarah, Joly Yann, Master Zubin, Shabani Mahsa, Borry Pascal, Becker Allan, Burgess Michael, Calder Kathryn, Critchley Christine, Edwards Kelly, Fullerton Stephanie M., Gottweis Herbert, Hyde-Lay Robyn, Illes Judy, Isasi Rosario, Kato Kazuto, Kaye Jane, Knoppers Bartha, Lynch John, McGuire Amy, Meslin Eric, Nicol Dianne, O'Doherty Kieran, Ogbogu Ubaka, Otlowski Margaret, Pullman Daryl, Ries Nola, Scott Chris, Sears Malcolm, Wallace Helen, Zawati Ma'n H. A review of the key issues associated with the commercialization of biobanks. J Law Biosci. 2014;1(1):94-110. Available from: https://www.google.com/search?q=A+review+of+the+key+issues+associated+with+the+commercialization+of+biobanks&rlz=1CAKDZI_enCA...
Conference Paper
Ma'n H. Zawati. Biobanques destinées à la recherche: introduction et défis majeurs. . 2014; Available from: http://rgdoi.net/10.13140/RG.2.1.1839.6000
Journal Article
Zawati Ma'n H, Parry David, Thorogood Adrian, Nguyen Minh Thu, Boycott Kym M, Rosenblatt David, Knoppers Bartha Maria. Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?. J Med Genet. 2014;51(1):68-70. Available from: https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-101934

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.

Book Section
Zawati Ma'n H. Éléments de la responsabilité civile du conseiller en génétique au Québec. In: Savard, Anne Marie; Forcier, Melanie Bourrassa, editors. Droit et politiques de la santé. LexisNexis Canada; 2014. p. 351. Available from: https://store.lexisnexis.ca/en/categories/shop-by-jurisdiction/quebec-11/droit-et-politiques-de-la-sante-2e-edition-skusku-ca...
Journal Article
Zawati Ma'n H. There Will Be Sharing: Population Biobanks, the Duty to Inform and the Limitations of the Individualistic Conception of Autonomy. Health L.J.. 2014;21:97-140. Available from: https://heinonline.org/HOL/P?h=hein.journals/hthlj21&i=105
Journal Article
Zawati Ma''n H., Knoppers Bartha, Thorogood Adrian. Population Biobanking and International Collaboration. Pathobiology. 2014;81(5-6):276-285. Available from: https://www.karger.com/Article/FullText/357527
Journal Article
Dove Edward S., Knoppers Bartha M., Zawati Ma’n H. An ethics safe harbor for international genomics research?. Genome Medicine. 2013;5(11):99. Available from: https://doi.org/10.1186/gm503

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.

Journal Article
Black L, Avard D, Zawati Mh, Knoppers Bm, Hébert J, Sauvageau G, on behalf of the Leucegene Project. Funding considerations for the disclosure of genetic incidental findings in biobank research. Clin Genet. 2013;84(5):397-406. Available from: https://onlinelibrary.wiley.com/doi/10.1111/cge.12190
Journal Article
Knoppers Bartha M., Dove Edward S., Zawati Ma'n H. Demystifying Biobanks. Hastings Center Report. 2013;43(5):4-5. Available from: https://onlinelibrary.wiley.com/doi/10.1002/hast.201
Journal Article
Knoppers Bartha Maria, Deschênes Mylène, Zawati Ma’n H, Tassé Anne Marie. Population studies: return of research results and incidental findings Policy Statement. Eur J Hum Genet. 2013;21(3):245-247. Available from: http://www.nature.com/articles/ejhg2012152
Journal Article
Knoppers Bartha Maria, Rioux Amélie, Zawati Ma’n H. Pediatric research ‘personalized’? International perspectives on the return of results. Personalized Medicine. 2013;10(1):89-95. Available from: https://www.futuremedicine.com/doi/10.2217/pme.12.110

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.

Journal Article
Sénécal Karine, Lévesque Emmanuelle, Fernandez Conrad, Tassé Anne-Marie, Ma'n H. Zawati, Bartha M. Knoppers, Avard Denise. RMGA Statement of Principles on the Return of Research Results and Incidental Findings. . 2013; Available from: http://rgdoi.net/10.13140/RG.2.1.3215.8567
Journal Article
Kirby Emily, Zawati Ma'n H, Knoppers Bartha Maria. Electronic Consent to Health Research in Canada. Canadian Bar Review. 2013;91(1-2):419-435. Available from: https://www.canlii.org/w/canlii/2013CanLIIDocs176.pdf
Report
Senecal Karine, Levesque Emmanuelle, Fernandez Conrad, Tasse Anne-Marie, Zawati Ma'n H., Knoppers Bartha, Avard Denise. Enonce de principes du RMGA sur la communication des rrsultats de recherche et des ddcouvertes fortuites (RMGA Statement of Principles on the Return of Research Results and Incidental Findings). RMGA; 2013. Available from: https://www.ssrn.com/abstract=2635179
Journal Article
Knoppers Bartha Maria, Zawati Ma'n H., Kirby Emily S. Sampling Populations of Humans Across the World: ELSI Issues. Annu. Rev. Genom. Hum. Genet.. 2012;13(1):395-413. Available from: https://www.annualreviews.org/doi/10.1146/annurev-genom-090711-163834

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.

Journal Article
Zawati Ma’n H., Knoppers Bartha Maria. International normative perspectives on the return of individual research results and incidental findings in genomic biobanks. Genet Med. 2012;14(4):484-489. Available from: https://www.nature.com/articles/gim201213

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.

Journal Article
Ma'n Zawati, Tassé Anne Marie. To Share or Not to Share? Secondary Use in Public Health Emergencies. . 2012; Available from: http://rgdoi.net/10.13140/RG.2.1.4067.8246
Journal Article
Zawati Ma''n H., Rioux Amelie. Les biobanques et le retour des résultats de recherche : quo vadis ?. Actions pour la santé et la recherché médicale en faveur des personnes vulnérables et des pays émergents - IVe Forum des jeunes chercheurs Les Études Hospitalières. 2012;:283-294. Available from: https://www.researchgate.net/publication/280732111_Les_biobanques_et_le_retour_des_resultats_de_recherche_quo_vadis
Journal Article
Zawati Ma’n H. Les conseillers en génétique et les professions médicales et infirmières au Québec : des frontières brouillées ?. Revue de droit et santé de McGill. 2012;6(1):137. Available from: https://www.canlii.org/fr/doctrine/doc/2012CanLIIDocs24#!fragment//BQCwhgziBcwMYgK4DsDWszIQewE4BUBTADwBdoByCgSgBpltTCIBFRQ3AT...

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

Book Section
Knoppers B.M., Zawati M.H. Biobanks. In: Chadwick, Ruth, editor. Encyclopedia of Applied Ethics. Elsevier; 2012. p. 246-250. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780123739322000223
Report
Zawati Ma'n H, Rioux A, Hetu M. Rapport Final - Le médecin face aux nouvelles technologies dans le domaine médical: nouvelles responsabilités?. Canadian Bioethics Society's Pre-conference Expert Forum; 2012. Available from: http://www.genomicsandpolicy.org/Ressources/RapportFinalSeptembre2012.pdf
Journal Article
Zawati Ma'n H, Van Ness Brian, Knoppers Bartha Maria. Incidental Findings in Genomic Research: A Review of International Norms. GenEdit. 2012;9(1) Available from: https://www.aims.ca/site/media/aims/Incidental%20Findings%20in%20Genomic%20Research.pdf
Journal Article
Ozdemir Vural, S. Rosenblatt David, Warnich Louise, Srivastava Sanjeeva, O. Tadmouri Ghazi, K. Aziz Ramy, Jaipal Reddy Panga, Manamperi Aresha, S. Dove Edward, Joly Yann, H. Zawati Ma'n, Hizel Candan, Yazan Yasemin, John Leela, Vaast Emmanuelle, S. Ptolemy Adam, A. Faraj Samer, Kolker Eugene, G.H. Cotton Richard. Editorial [Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA)]. CPPM. 2011;9(4):243-251. Available from: http://www.eurekaselect.com/openurl/content.php?genre=article&issn=1875-6921&volume=9&issue=4&spage=243
Journal Article
Ozdemir Vural, Pang Tikki, Knoppers Bartha M., Avard Denise, Faraj Samer A., Zawati Ma'n H., Kolker Eugene. Vaccines of the 21st Century and Vaccinomics: Data-Enabled Science Meets Global Health to Spark Collective Action for Vaccine Innovation. OMICS: A Journal of Integrative Biology. 2011;15(9):523-527. Available from: http://www.liebertpub.com/doi/10.1089/omi.2011.03ed
Journal Article
Joly Yann, Koutrikas Georgia, Ramos-Paque Emma, Zawati Ma'n, Gardy Jennifer, Hayden Michael R., Carleton Bruce C. Diagnostic Testing for Vaccinomics: Is the Regulatory Approval Framework Adequate? A Comparison of Canada, the United States, and Europe. OMICS: A Journal of Integrative Biology. 2011;15(9):597-605. Available from: http://www.liebertpub.com/doi/10.1089/omi.2010.0135
Journal Article
Zawati Ma'n H., Hendy Matthew, Joly Yann. Incidental Findings in Data-Intensive Postgenomics Science and Legal Liability of Clinician–Researchers: Ready for Vaccinomics?. OMICS: A Journal of Integrative Biology. 2011;15(9):615-624. Available from: http://www.liebertpub.com/doi/10.1089/omi.2010.0137
Journal Article
Zawati Ma’n H., Borry Pascal, Howard Heidi Carmen. Closure of population biobanks and direct-to-consumer genetic testing companies. Hum Genet. 2011;130(3):425-432. Available from: http://link.springer.com/10.1007/s00439-011-1019-4
Journal Article
Knoppers Bartha Maria, Harris Jennifer R., Tassé Anne Marie, Budin-Ljøsne Isabelle, Kaye Jane, Deschênes Mylène, Zawati Ma'n H. Towards a data sharing Code of Conduct for international genomic research. Genome Medicine. 2011;3(7):46. Available from: https://doi.org/10.1186/gm262

Data sharing is increasingly regarded as an ethical and scientific imperative that advances knowledge and thereby respects the contributions of the participants. Because of this and the ever-increasing amount of data access requests currently filed around the world, three groups have decided to develop data sharing principles specific to the context of collaborative international genomics research. These groups are: the international Public Population Project in Genomics (P3G), an international consortium of projects partaking in large-scale genetic epidemiological studies and biobanks; the European Network for Genetic and Genomic Epidemiology (ENGAGE), a research project aiming to translate data from large-scale epidemiological research initiatives into relevant clinical information; and the Centre for Health, Law and Emerging Technologies (HeLEX). We propose seven different principles and a preliminary international data sharing Code of Conduct for ongoing discussion.

Journal Article
Zawati Ma'n H, Van Ness Brian, Knoppers Bartha Maria. Les découvertes fortuites dans la recherche en génomique: une revue des normes internationales. GenEdit. 2011;9(1) Available from: https://www.researchgate.net/publication/280923364_Les_decouvertes_fortuites_dans_la_recherche_en_genomique_une_revue_des_nor...
Journal Article
Bartha M. Knoppers, Ma'n H. Zawati. De l'éthique et des avocats: les comités d'éthique dans le milieu hospitalier. . 2011; Available from: http://rgdoi.net/10.13140/RG.2.1.3633.6484
Journal Article
Zawati Ma'n H., Rioux Amélie. Biobanks and the Return of Research Results: Out with the Old and in with the New?. J. Law. Med. Ethics. 2011;39(4):614-620. Available from: https://www.cambridge.org/core/product/identifier/S1073110500016363/type/journal_article

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.

Book Section
Knoppers Bartha Maria, Zawati Ma'n H. Population Biobanks and Access. In: Canestrari, Stefano; Ferrando, G.; Mazzoni, Cosimo Marco; Rodotà, Stefano; Zatti, Paolo, editors. Il governo del corpo / a cura di Stefano Canestrari, Gilda Ferrando, Cosimo Marco Mazzoni, Stefano Rodotà, Paolo Zatti. Milano: Giuffrè editore; 2011. Available from: https://iris.unige.it/handle/11567/295638
Report
Zawati Ma'n H. Guidance for Biobanks: Models of Consent for Public Health. Public Health Agency of Canada; 2011.
Report
Ngueng Feze I, Joly Y, Zawati M, Knoppers B.M. Genomic Population Biobanks: Legal, Ethical and Social Aspects. Paris: UIA; 2011.
Report
Zawati Ma'n H. Key Ethical Considerations in the Development of Guidelines for the Biobanking of Human Biological Materials: A Discussion Paper. Public Health Agency of Canada; 2010. Available from: https://www.researchgate.net/publication/280923455_Key_Ethical_Considerations_in_the_Development_of_Guidelines_for_the_Bioban...
Book Section
Zawati Ma'n H. La pharmacogénomique et la responsabilité civile des médecins. In: Duguet, Anne-Marie; Filippi, Isabelle, editors. Droit de la santé publique dans un contexte translational: IVe forum des jeunes chercheurs. Bordeaux Centre: Les Etudes Hospitalieres; 2010. Available from: https://www.librairie-gallimard.com/livre/9782848741468-droit-de-la-sante-publique-dans-un-contexte-transnational-ive-forum-d...
Book Section
Knoppers BM, Zawati Ma'n H. Biobanks in the Literature. In: Elger, B; Capron, A, editors. Ethical Issues in Governing Biobanks: Global Perspectives. United Kingdom: Ashgate Publishing Ltd; 2008.