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5.3 Human Genetic Research in Canada and Internationally
Ethical Practice for Human Genetic Research in Canada
While we will delve into the ethical, legal, and social aspects of genomics in a later unit, it is crucial to address the ethical considerations that arise when discussing genomic research. These include special considerations related to privacy and confidentiality of genomic data, complexities related to informed consent and the unspecified future use of specimens (broad consent), underrepresentation in genomic data, equity and access to genomic services, genetic discrimination, return of findings including incidental findings, cultural considerations, ethical oversight, emerging treatments that pose ethical concerns, and genetic testing in children. It is beyond the scope of this course to delve into all of these ethical issues. A brief review of select issues will be provided as well as information on where to seek guidance to resolve ethical concerns. These concerns are not specific to research in Canada. Globally, genomics research experiences the same ethical issues. However, this chapter will focus on policy that guides human genetics research in Canada.
The Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (TCPS2 – 2022) is the policy that governs research involving humans conducted by Canadian researchers under the three federal funding agencies: the Canadian Institutes of Health Research (CIHR), the Natural Sciences and Engineering Research Council of Canada (NSERC), and the Social Sciences and Humanities Research Council of Canada (SSHRC). As a condition of funding, researchers must adhere to this policy. It is based upon the Belmont Report and the Nuremberg Code. It should also be noted that TCPS2 (2022) uses the term “genetics.” For the purposes of this chapter, this should be considered synonymous with “genomics.”
There are learning modules that all Canadian researchers complete in order to conduct research in Canada and a certificate of completion can be downloaded.
Many of the chapters in the TCPS2 (2022) are specifically applicable to ethical issues arising from genomics research, such as consent, privacy and confidentiality, and storage and use of human biological materials. Additionally, chapter 13 is dedicated to human genetic research considerations.
This chapter focuses on the ethical conduct of human genetic research. It addresses the application of core principles, management of information revealed through genetic research, genetic counselling, and considerations for research involving families, communities, and groups. The chapter emphasizes the importance of privacy, consent, and the potential social impacts of genetic research.
Questions for reflection:
How can nurses ensure that patients fully understand the implications of consenting to genetic research, especially regarding privacy and potential future use of their genetic information?
What strategies can nurses employ to address the ethical challenges that arise when genetic research findings have implications for a patient’s family members or community?
As nurses enter a healthcare landscape increasingly reliant on data, how can they advocate for responsible and ethical use of data, especially concerning patient privacy and confidentiality in the context of precision health?
Diversity in Genomic Research (NHGRI, 2023)
The code embedded within the human genome is complex, and genomics research has only scratched the surface of determining everything there is to know about what makes us all different at the DNA level. Historically, the people who have provided their DNA for genomics research have been overwhelmingly of European ancestry, which creates gaps in knowledge about the genomes from people in the rest of the world. Scientists are now expanding their data collection to better understand how genomics can be used to improve the health and wellbeing of all people.
Based on work completed before and after the Human Genome Project, researchers found that the genome sequences of human populations have changed significantly over 250,000 years of our species’ expansion and migration across the Earth. Even with the high degree of similarity between any two human genomes, enough differences exist that it is not appropriate to use a single, or even a few, genomes to represent the world’s populations. This highlights that the original human genome reference sequence, produced by the Human Genome Project and based on just a handful of research participants, was just the starting point for human genomics.
To address this limitation, efforts are underway to create human reference genome sequences that better represent diverse populations. NHGRI funds the Human Pangenome Reference Program, which is generating a collection of reference genome sequences that better represent human diversity.
Figure 5.1 The percentage of ancestry populations included in large-scale genomic studies is overwhelmingly European(78%). 10% Asian, 1% Hispanic, 8.5% unreported, 2% African and 0.5% other minorities. Source: courtesy: National Human Genome Research Institute, Public Domain with Attribution
How does studying diverse human genomes improve health outcomes?
Every human has some baseline genetic risk of developing a given disease. Extensive research has been performed to both understand and learn how to respond to these risks. In some cases, the same variant consistently causes a disease (e.g., Huntington’s disease and cystic fibrosis), but this might not be the case for more complex diseases (e.g., coronary artery disease, obesity, cancer and Alzheimer’s disease).
By including populations that reflect the full diversity of human populations in genomic studies, researchers can identify genomic variants associated with various health outcomes at the individual and population levels. This way, researchers can better define a person’s risk of developing a specific disease and design a clinical management strategy that is tailored to the individual. In addition, they can pursue genomic medicine strategies that benefit specific populations.
Why has enhancing diversity in genomics research been a difficult task?
Increasing the representation of diverse participants in genomics research requires an investment of both resources and time to intentionally establish trusting and respectful long-term relationships between communities and researchers. To ensure that genomics research is both equitable and inclusive, it is crucial for the genomics research workforce to reflect a similar diversity as the communities that the research is intended to serve.
In the past, both inaccessible and insufficient communication left some research participants unclear about the benefits of their participation and how their data would be used after the studies concluded. To overcome this, researchers must seek to understand people’s reasons for not participating in genomic studies and to communicate with participants in a more accessible manner. This can take additional time, effort and resources, which may discourage some researchers from including these important, diverse populations in their studies. However, such exclusion can lead to notable gaps in scientific understanding and potentially reenforce existing disparities in genomics research.
Tracking Resource
The GWAS Diversity Monitor (Mills, 2020) is an interactive dashboard that tracks the diversity of participants in all published Genome Wide Association Studies (GWAS).
What are some genomics research projects that are enhancing the diversity?
Genomics researchers have initiated dozens of research projects to enhance the representation of research participants in genomics research. These studies are addressing a variety of research topics, including the effects of genomic diversity on disease risk, how to tailor genomic medicine for underrepresented populations, the impact of genomics research on diverse and the history of the human population.
NIH’s All of Us Research Program is working to build a diverse health resource by collecting genome-related data and other information from about 1 million people. The Global Alliance for Genomics and Health (GA4GH) is developing a framework for storing, analyzing and sharing genomic data among international researchers. The Human Cell Atlas aims to be a resource that includes in-depth information about all cell types found in people across the world.
How is NHGRI helping to improve diversity in genomics research?
NHGRI is dedicated to increasing diversity of the genomics workforce. In addition, NHGRI supports projects that work to increase the diversity of people participating in genomics research, including:
The 1,000 Genomes Project (2002 – 2015)
The most extensive public catalog of human variation and genomic data, with over 2,000 genomic samples from 26 populations across the North and South America, Africa, Asia and Europe.
Human Heredity and Health in Africa (H3Africa) (2012 – 2022)
The largest pan-African genomic research consortium that investigates the genomics of disease in Africa. The project also aims to build a sustainable African genomics research enterprise. This project is a collaborative effort that also involves the NIH Common Fund, the Wellcome Trust and the African Academy of Sciences.
Polygenic Risk Score (PRS) Diversity Consortium (2021 – 2027)
The consortium uses insights from genomic diversity to predict health and disease risk across diverse populations using a PRS approach.
Electronic Medical Records and Genomics (eMERGE) Network (2020 – 2025)
This network establishes protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their use in clinical care.
Unethical Research Conduct Consequences
Historical abuses of research ethics have led to a lack of trust in scientific research and medical systems. This has led to the development of stricter policies guiding research ethics to protect participants and researchers. Ethical guidelines draw particular attention to the protection of vulnerable subjects because history has taught us that these populations are most easily exploited and have the most to lose. We will explore scientific racism more in the unit on ethical, legal and social implications of genomics. However, it seems fitting to include mention of this research history here.
HeLa Cells: A Lasting Contribution to Biomedical Research
In 1951, Henrietta Lacks, a 31-year-old African-American woman, went to Baltimore’s Johns Hopkins Hospital to be treated for cervical cancer. Some of her cancer cells began being used in research due to their unique ability to continuously grow and divide in the laboratory. These so-called “immortal” cells were later named “HeLa” after the first two letters of Henrietta Lacks first and last name.
Since Ms. Lacks’ untimely death in 1952, HeLa cells have been a vital tool in biomedical research, leading to an increased understanding of the fundamentals of human health and disease. Some of the research involving HeLa cells also served as the underpinning of several Nobel Prize winning discoveries.
While Henrietta Lacks’ story has been known in the research community for some time, it raised further awareness after the publication of the best-selling book The Immortal Life of Henrietta Lacks (Skloot, 2010).
To honor Ms. Lacks’ and her family’s continued support of biomedical research, NIH analyzed and evaluated the scientific literature involving HeLa cells and found over 110,000 publications that cited the use of HeLa cells between 1953 to 2018. This analysis further highlights the persistent impact of HeLa cells in science and medicine, proving that they have been a consistent, essential tool that has allowed researchers to expand the knowledge base in fields such as cancer biology, infectious disease, and many others.
This website aims to act as a transparent, accessible resource to the general public, scientific researchers, and the Lacks’ family that is in keeping with the spirit of the historic 2013 NIH-Lacks Family Agreement. NIH remains grateful to Henrietta Lacks and her family for the contributions of HeLa cells to science and medicine, and for her family’s continued support of biomedical research.
Use the bars on the bottom of the interactive slide show to navigate and watch the following videos, or use the text links below to access the videos on YouTube.
Source: Created by Andrea Gretchev, CC BY-NC 4.0 except where otherwise noted.
Here in Canada, the Nuu-chah-nulth case brought attention to the ethical concerns surrounding the use of stored biological samples, especially those collected from indigenous communities. The Nuu-chah-nulth tribe donated blood samples for research into the genetic causes of rheumatoid arthritis but later learned their samples were used for unrelated research without their consent, which they considered an example of exploitation. The tribe’s blood samples were collected by geneticist Ryk Ward at the University of British Columbia, who took the samples with him when he left the university, continuing his research at the University of Utah and later at the University of Oxford. Ward shared data from the samples with collaborators and published half a dozen articles based on his research. In response to the case, the University of British Columbia and the University of Utah implemented new policies requiring researchers to obtain consent for any new research conducted on stored samples.
Special Considerations for Genomics Research with Indigenous Populations
The article below focuses on consultations with First Nations communities in northern British Columbia regarding the establishment of a First Nations biobank for use in genomic health research. Some key ethical considerations that emerged in the consultations were: the need to rebuild trust in research among First Nations communities, the need to incorporate cultural safety and traditional knowledge into all stages of the biobank’s development and implementation, the importance of ensuring First Nations ownership and control of the biobank and all research undertaken using its materials, and the need for comprehensive and culturally sensitive consent processes.
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Caron, N. R., Adam, W., Anderson, K., Boswell, B. T., Chongo, M., Deineko, V., Dick, A., Hall, S. E., Hatcher, J. T., Howard, P., Hunt, M., Linn, K., & O’Neill, A. (2023). Partnering with First Nations in Northern British Columbia Canada to reduce inequity in access to genomic research. International Journal of Environmental Research and Public Health, 20(10), 5783-. https://doi.org/10.3390/ijerph20105783
Other important work being done to protect the rights and interests of Indigenous Peoples include the Silent Genomes Project is a collaborative effort involving various partners, including the First Nations, Inuit, and Métis communities, and is led by experts in the field of genomics and Indigenous health. It is aimed at reducing health care disparities, and improving diagnostic success and health outcomes for Indigenous children in Canada with genetic diseases. Some key aspects of the project include addressing health inequities, Indigenous governance, creating an Indigenous biobank and variant library, and providing culturally safe genomic testing.
Concept in Action: First Nations Principles of OCAPTM
Research with Indigenous Peoples should follow the principles of OCAP® which “asserts that First Nations alone have control over data collection processes in their communities, and that they own and control how this information can be stored, interpreted, used, or shared” (First Nations Information Governance Centre, 2024, para. 2).
Video source: FNIGC. (2014, July 22). Understanding the First Nations Principles of OCAPTM: Our road map to information governance [Video]. YouTube. https://www.youtube.com/watch?v=y32aUFVfCM0
Note: OCAP® is a registered trademark of the First Nations Information Governance Centre (FNIGC).
Image Description
5.3 HeLa Timeline: Henrietta Lacks
The world owes much to Henrietta Lacks. Henrietta Lacks was an African American woman whose cells were removed during a biopsy in 1951 – and used for research without her knowledge or approval. A few months after Henrietta’s diagnosis of cervical cancer, she died at the age of 31 years old. She would never know that more than six decades later, her cells would continue to grow and provide a foundation for advancements in science and medicine.
Henrietta’s cells revolutionized the field of medicine. Her amazing and immortal cells (commonly known as HeLa cells) have been used for decades in biomedical research – to study cancer, the effects of radiation, and AIDS – among many other areas. Her cells led to the development of successful drugs in fighting human diseases, such as leukemia, hemophilia, herpes, human papillomavirus (HPV), Parkinson’s disease, and influenza, among others.
HeLa Timeline
1920: Henrietta Lacks was born Loretta Pleasant on August 1, 1920 in Roanoke, Virginia to Eliza and Johnny Pleasant.
1941: On April 10, 1941, Henrietta Pleasant married David “Day” Lacks.
1951: A biopsy of Henrietta Lacks’ tumour was taken and sent to the lab of Dr. George Gey resulting in the creation of the HeLa cell line.
1952: Scientists used HeLa cells to help develop the polio vaccine.
1973: Scientists used HeLa cells to study the behavior of samonella inside human cells.
1984: HeLa cells were used by a German virologist to help prove that the human papillomavirus (HPV) causes cancer.
1986: The virus infection mechanism of HIV w2as studied by scientists who infected HeLa cells with HIV.
1993: HeLa cells were used to study tuberculosis.
2013: On August 6, 2013, the NIH announced an agreement with the family of Henrietta Lacks to allow biomedical researchers controlled access to the whole genome data of HeLa cells. [Back to Fig. 5.3]
Attribution & References
Except where otherwise noted, this content is written by Andrea Gretchev, licensed under CC BY-NC 4.0
First Nations Information Governance Centre. (2024). The First Nations principles of OCAP®. https://fnigc.ca/ocap-training/
Mills, M.C & Rahal, C. (2020). The GWAS Diversity Monitor Tracks diversity by disease in real time. Nature Genetics, 52, 242-243. https://doi.org/10.1038/s41588-020-0580-y
National Human Genome Research Institute (NHGRI). (n.d.). Diversity in genomic research. Genome.gov. https://www.genome.gov/about-genomics/fact-sheets/Diversity-in-Genomic-Research
Skloot, R. (2010). The immortal life of Henrietta Lacks. Crown Publishers. https://search.worldcat.org/title/The-immortal-life-of-Henrietta-Lacks/oclc/326529053
