Yann Joly

• DCL
• Director at Centre of Genomics and Policy - McGill University

Psilocybin-assisted psychotherapy represents a promising addition to palliative care interventions, potentially improving quality of life by addressing existential distress. Despite its safety and effectiveness, this therapy remains limited in Canada, underscoring the need for improved access to ease suffering from life-threatening illnesses. Howev...

Many jurisdictions are considering a shift to risk-stratified breast cancer screening; however, evidence on the feasibility of implementing it on a population scale is needed. We conducted a prospective cohort study in the PERSPECTIVE I&I project to produce evidence on risk-stratified breast screening and recruited 3753 participants to undergo mult...

Background The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) incorporates the effects of common genetic variants, from polygenic risk scores, pathogenic variants in major breast cancer (BC) susceptibility genes, lifestyle/hormonal risk factors, mammographic density, and cancer family history to predict...

Introduction This qualitative research study aimed to better understand and help improve the Canadian context for health communication with intersex adults by centering the voices of those directly involved and impacted. Methods We conducted 22 semi-structured interviews with intersex individuals (14) and healthcare practitioners (HCPs, 8) from di...

Advances in the field of regenerative medicine have allowed for the rapid development of stem cell-based therapies in the hope of treating numerous debilitating diseases. Most of these therapies are not fully ready to be administered to patients, but hundreds of businesses around the world exploit the excitement around stem cells’ therapeutic poten...

The COVID-19 pandemic led to a large global effort to sequence SARS-CoV-2 genomes from patient samples to track viral evolution and inform the public health response. Millions of SARS-CoV-2 genome sequences have been deposited in global public repositories. The Canadian COVID-19 Genomics Network (CanCOGeN – VirusSeq), a consortium tasked with coord...

Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by “normalizing” genital surgeries without the child's con...

Importance Governments worldwide have become increasingly cognizant of the spread of genetic discrimination (negative treatment or harm on the basis of actual or presumed genetic characteristics). Despite efforts by a number of governments to establish regulations addressing this phenomenon, public concern about genetic discrimination persists. Ob...

Background Intersex describes a diversity of individuals with variations in sex characteristics (VSC), reflecting underlying differences in reproductive anatomy, hormones, and/or genes and chromosomes. With a shift towards socially-conscious clinical practices, genetic counsellors (GCs) are increasingly needing to provide comprehensive care to indi...

Participants in the long-running bioethical debate over human germline genetic modification (HGGM) tend to imagine future people abstractly and on the basis of conventionalized characteristics familiar from science fiction, such as intelligence, disease resistance and height. In order to distinguish these from scientifically meaningful terms like “...

The genomics community has long acknowledged the lack of diversity in datasets used for research, prompting various stakeholders to confront this issue. In response, the Global Alliance for Genomics and Health (GA4GH) formulated a policy framework that recognizes the multiplicity of perspectives on diversity and proposed a systemic approach for mor...

Many countries consider long-term implications for society

Genetic discrimination is an evolving phenomenon that impacts fundamental human rights such as dignity, justice and equity. Although, in the past, various definitions to better conceptualize genetic discrimination have been proposed, these have been unable to capture several key facets of the phenomenon. In this Perspective, we explore definitions...

Risk-stratified breast screening has been proposed as a strategy to overcome the limitations of age-based screening. A prospective cohort study was undertaken within the PERSPECTIVE I&I project, which will generate the first Canadian evidence on multifactorial breast cancer risk assessment in the population setting to inform the implementation of r...

The COVID-19 pandemic led to a large global effort to sequence SARS-CoV-2 genomes from patient samples to track viral evolution and inform public health response. Millions of SARS-CoV-2 genome sequences have been deposited in global public repositories. The Canadian COVID-19 Genomics Network (CanCOGeN - VirusSeq), a consortium tasked with coordinat...

The Forensic Databases Advisory Board (FDAB), an independent board that assists the International Society for Forensic Genetics (ISFG), has presented a First Report on ethical aspects of the following Forensic Genetic Frequency Databases (FGFD): EMPOP, STRidER and YHRD. The FDAB designed an ethical framework to evaluate the content of these FGFD, a...

Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn sig...

Motivation Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these consortia are stored in controlled-access databases...

Background Internationally, there is a growing interest in the potential benefits of psilocybin-assisted therapy to treat existential distress at the end of life. However, the social acceptability of this therapy is not yet well known. Aim This study assesses the social acceptability of the medical use of psilocybin to treat existential distress a...

Genetic testing's increased availability has raised concerns about “genetic discrimination” (GD), where individuals may face unfair treatment, particularly when purchasing personal insurance, because of their genetic characteristics. In 2017, Canada passed the Genetic Non-Discrimination Act (GNDA) to prevent GD. This manuscript reviews post-GNDA li...

The Global Alliance for Genomics and Health (GA4GH) is an international not-for-profit organization dedicated to the development of standards and policies to expand the use of genomic data within a human rights framework, improving health for everyone. The GA4GH benefits from the participation of more than 500 leading organizations in healthcare, p...

Epigenetic research has brought several important technological achievements, including identifying epigenetic clocks and signatures, and developing epigenetic editing. The potential military applications of such technologies we discuss are stratifying soldiers’ health, exposure to trauma using epigenetic testing, information about biological clock...

BACKGROUND Self-management interventions are emphasized as a way to optimize health outcomes and care, but they necessitate supporting patients to access timely and reliable health information, which remains a challenge. In the realm of digital health, artificial intelligence-based chatbots capable of conversing with users in natural language have...

The mistreatment and basic human rights violations that the intersex community has faced, involving the right to bodily integrity, the right to autonomy, and the right to self-determination have long been ignored by legislative bodies and governments. Only in 2015, Malta became the first country to pass a comprehensive law banning medi- cally unnec...

Background: Sex and gender are vitally important in the study of epigenetic mechanisms for various types of cancer. However, little has been done to assess the state of sex and gender-based analyses (SGBA) in this field. The aim was to undertake a critical evaluation of sex and gender representation, discussion, and data analysis within the cancer...

Motivation: Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these consortia are stored in controlled-access database...

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...

Given the controversy over the effectiveness of age-based breast cancer (BC) screening, offering risk-stratified screening to women may be a way to improve patient outcomes with detection of earlier-stage disease. While this approach seems promising, its integration requires the buy-in of many stakeholders. In this cross-sectional study, we surveye...

Objective: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to...

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...

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 da...

The availability of precision medicine tools and approaches has increased considerably over the past decades, propelled by rapid scientific advances in genomics and the popularity of direct-to-consumer genetic testing. Genetic specialists working within public healthcare systems are struggling to meet the growing demand for clinical genetic service...

The Data Privacy Assessment Tool for Health (D-PATH) is a proof-of-concept online tool designed to help users intending to share biomedical data identify applicable legal obligations and relevant best practices. D-PATH provides a series of simple questions to assess important aspects of the data sharing task, such as the user’s legal jurisdiction a...

Knowledge transfer among research disciplines can lead to substantial research progress. At first glance, astronaut health and rare diseases may be seen as having little common ground for such an exchange. However, deleterious health conditions linked to human space exploration may well be considered as a narrow sub-category of rare diseases. Here,...

Mitochondrial replacement therapy (MRT), also called nuclear genome transfer and mitochondrial donation, is a new technique that can be used to prevent the transmission of mitochondrial DNA diseases. Apart from the United Kingdom, the first country to approve MRT in 2015, Australia became the second country with a clear regulatory path for the clin...

During the COVID-19 pandemic, consortium efforts from public-health authorities and their partners in academia, industry, healthcare, research institutes, and sequencing centres have created a virtual flood of viral genomic sequence data. Genomic sequence data is information rich. However, the data needs to be interpreted with the use of contextual...

Over the past decade, bioethicists, legal scholars and social scientists have started to investigate the potential implications of epigenetic research and technologies on medicine and society. There is growing literature discussing the most promising opportunities, as well as arising ethical, legal and social issues (ELSI). This paper explores the...

Purpose Health care professionals are expected to take on an active role in the implementation of risk-based cancer prevention strategies. This study aimed to explore health care professionals’ (1) self-reported familiarity with the concept of polygenic risk score (PRS), (2) perceived level of knowledge regarding risk-stratified breast cancer (BC)...

Health professionals not specialized in genetics are expected to take an increasing role in genetic services delivery. This article aims to identify legal and ethical challenges related to a collaborative oncogenetics service model, where non-genetic health professionals provide genetic services to patients. Through a scoping literature review, we...

A comparative review of data sharing regulations and practices in Australia, France, the United States, and United Kingdom.

International biomedical research, in which projects span borders and engage participants from multiple countries, has increased substantially during the last several decades. Despite the proven value of large, geographically, and ethnically diverse studies, further advancements are being impeded by the burden of submitting separate, and often nume...

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...

Currently, most advances in site-specific epigenetic editing for human use are concentrated in basic research, yet, there is considerable interest to translate this technology beyond the bench. This review highlights recent developments with epigenetic editing technology in comparison with the canonical CRISPR-Cas genome editing, as well as the epi...

Anti-selection occurs when information asymmetry exists between insurers and applicants. When an applicant knows they are at high risk of loss, but the insurer does not, the applicant may try to use this knowledge differential to secure insurance at a lower premium that does not match risk.

Single-site review means protection and efficiency.

Epigenetics – the study of mechanisms that influence and modify gene expression – is providing unique insights into how an individual’s social and physical environment impact the body at a molecular level, particularly in populations that experience stigmatization and trauma. Researchers are employing epigenetic studies to illuminate how epigenetic...

Individuals with intersex variations fall outside the normative sex binary of male and female for various reasons. These individuals are highly stigmatized and discriminated against in the legal, medical and social spheres. In this paper, we analyze manifestations of such discrimination in the healthcare context and hypothesize that Patient Centred...

New technologies and rapidly evolving practices in genetics research raise challenging ethical issues that research ethics principles and theories developed in the previous century may not adequately address. Among the issues faced in this twenty-first century genetics era are those related to privacy and discrimination, personalized medicine, inte...

This paper presents an inter-disciplinary study of the risk for, and protections against, genetic discrimination in access to life insurance in Ukraine. It aims (i) to review questions related to genetic information, health status, and family history currently included in Ukrainian life insurance application forms; (ii) to analyze the Ukrainian leg...

This letter is the Human Genome Organisation’s summary reaction to the 2020 COVID-19 pandemic. It identifies key areas for genomics research, and areas in which genomic scientists can contribute to a global response to the pandemic. The letter has been reviewed and endorsed by the HUGO Committee on Ethics, Law and Society (CELS) and the HUGO Counci...

While much attention has gone towards ethical, legal, and social implications of direct-to-consumer genetic testing over the past decades, the rise of new forms of consumer omics has largely escaped scrutiny. In this paper, we analyze the product descriptions, promotional messages, terms of service, and privacy policies of five epigenetic and seven...

Genomic science is increasingly central to the provision of health care. Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers. Engagement and involvement of diverse stakeholders can support alignment of societal and scientific interests, unde...

We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach wherein data providers have the mandate and resources to share, but where data cannot move for legal or technical reasons. We rec...

We present the Canadian Distributed Infrastructure for Genomics (CanDIG) platform, which enables federated querying and analysis of human genomics and linked biomedical data. CanDIG leverages the standards and frameworks of the Global Alliance for Genomics and Health (GA4GH) and currently hosts data for five pan-Canadian projects. We describe CanDI...

Background In 2019, the Australian life insurance industry introduced a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting. The moratorium is industry self-regulated and applies only to policies below certain financial limits (eg, $500 000 of death cover). Methods We surveyed Australian health professi...

Genetic discrimination (GD) is the differential or unfair profiling of an individual based on genetic data. This article summarizes the actions of the Genetic Discrimination Observatory (GDO) in addressing GD, and recent developments in GD since late 2020. It shows GD can take many forms in today’s rapidly evolving society.

Genetic discrimination (GD) is the differential or unfair profiling of an individual on the basis of genetic data. This article summarizes the actions of the Genetic Discrimination Observatory (GDO) in addressing GD and recent developments in GD since late 2020. It shows how GD can take many forms in today’s rapidly evolving society.

The success of risk-stratified approaches in improving population-based breast cancer screening programs depends in no small part on women’s buy-in. Fear of genetic discrimination (GD) could be a potential barrier to genetic testing uptake as part of risk assessment. Thus, the objective of this study was twofold. First, to evaluate Canadian women’s...

Our article aims to provide a comprehensive portrayal of how seven Asian jurisdictions have sought to address the challenge of genetic discrimination (GD) by presenting an analysis of the relevant legislation, policies, and practices. Based on our findings, policy discussion and action on preventing or mitigating GD have been narrowly framed in ter...

Background Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure. Methods Sixty-one cancer patients (n = 29) and members of the public (n = 32) participated in eight focus groups in Mon...

Early detection of breast cancer through screening reduces breast cancer mortality. The benefits of screening must also be considered within the context of potential harms (e.g., false positives, overdiagnosis). Furthermore, while breast cancer risk is highly variable within the population, most screening programs use age to determine eligibility....

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the pro...

Background In 2019, the Australian life insurance industry introduced a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting. The moratorium is industry self-regulated and applies only to policies below certain financial limits (eg AUD$500,000 of life cover). Methods We surveyed Australian health professi...

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 im...

Participants in the human gene editing debate often consider examples from science fiction but have rarely engaged directly with the science fiction community as stakeholders. To understand how science fiction authors develop and spread their views on gene editing, we created an online questionnaire that was answered by 78 authors, including 71 who...

Mitochondrial replacement therapy (MRT) in Canada is considered a criminal offense according to article 5(1)(f) of the Assisted Human Reproduction Act (AHRA) (2004). The Act prohibits any practice that modifies the genome of “a human being or in vitro embryo such that the alteration is capable of being transmitted to descendants.” We carried out 32...

Recent advancements in genetic technologies have made genetic information increasingly sought out in a wide range of non‐therapeutic contexts, which has increased the risk that such information be used to discriminate against individuals. Frequently, it is genetic counselors who have to respond to questions about genetic discrimination (GD) from wo...

Rapid expansions of bioinformatics and computational biology have broadened the collection and use of -omics data including genomic, transcriptomic, methylomic and a myriad of other health data types, in the clinic and the laboratory. Both clinical and research uses of such data require co-analysis with large datasets, for which participant privacy...

Intersex individuals face human rights violations, discrimination, and stigmatization worldwide. Diagnosis in infants is uncommon, with between 1 in 2000 and 1 in 4500 infants born with ambiguous external genitalia sufficient to warrant genetic and endocrine studies. However, estimates of the actual proportion of the population falling under the br...

The unveiling of the world’s first gene-edited twins by biophysics researcher He Jiankui generated much discussion about Chinese legal and ethical frameworks for biotechnology. In response, the highest Chinese legislative body, the National People’s Congress, and the two responsible departments for biotechnology, the Ministry of Science and Technol...

Background: Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure. Methods: Sixty-one cancer patients (n=29) and members of the public (n=32) participated in eight focus groups in Montre...

Risk-stratified screening for breast cancer (BC) is increasingly considered as a promising approach. However, its implementation is challenging and needs to be acceptable to women. We examined Canadian women’s attitudes towards, comfort level about, and willingness to take part in BC risk-stratified screening. We conducted an online survey in women...

Anticipatory policy for gene editing requires assessing public opinion about this new technology. Although previous surveys have examined respondents’ views on the moral acceptability of various hypothetical uses of CRISPR, they have not considered whether these scenarios are perceived as plausible. Research in construal level theory indicates that...

Translational medicine continuously intends to find faster, less expensive, and more effective ways to translate basic research into clinical applications. Intellectual property can contribute to making this transition. This chapter provides an overview of the way in which intellectual property contributes to the medical translation process, includ...

Distinguished Professor Don Chalmers retired from the Law Faculty at the University of Tasmania on Friday 10 July 2020. This article is dedicated to Don, providing a brief account and acknowledgment of his fine contributions to legal research and education and law reform, particularly in the field of health and medical law, research ethics and poli...

Given the public interest in epigenetic science, this study aimed to better understand media representations of epigenetics in national newspaper coverage in various regions in North America, Europe, and Asia. Content analysis was used to study media messages about epigenetics, their policy focus, and the balance of the reporting. We identified sev...

Insurers and employers have become increasingly interested in the capacity of genetic information to predict future health outcomes. This trend has sparked fears that they may use this information to discriminate between individuals based on their genetic characteristics. Despite limited empirical evidence, concerns among some interest groups have...

Objective Palliative care providers may face questions from patients and relatives regarding the heritability of cancers. Implications of such discussions for providers have been little explored. This study aimed to gather palliative care providers’ views on their main needs, roles, and ethical concerns regarding cancer family history discussions....

Over the past four years, private online companies have begun selling epigenetic and microbiomic tests to the public. Most of these tests are marketed as tools to provide customers increased control over their health and wellness. Companies offer tests for a wide variety of conditions, including biological aging, gut microflora composition, skin ty...