"

5.7 Unit Summary and Review

Key Takeaways

Nurses are integral to advancing genomic research, leveraging their expertise to bridge the gap between complex scientific discoveries and patient care. Through roles in direct research, data management, and ethical oversight, nurses contribute significantly to the genomics field. Studies using genomic approaches, such as genome-wide association studies (GWAS), have highlighted the potential of genomics to improve clinical practice, policy, education, and healthcare systems. However, the integration of genomic findings into clinical settings remains an ongoing challenge.

Diversity and ethical considerations are critical considerations in genomics research. Historically, studies have overrepresented populations of European ancestry, creating knowledge gaps about diverse genomic variants and their impact on health outcomes. Efforts such as the Human Pangenome Reference Program and initiatives like the NIH’s All of Us Research Program aim to address these disparities by including underrepresented populations. Additionally, ethical frameworks, such as Canada’s Tri-Council Policy Statement (TCPS), guide the conduct of human genetic research, emphasizing informed consent, privacy, and inclusivity. Addressing diversity challenges requires building trust with communities and ensuring equitable participation, which enhances the global applicability and fairness of genomic medicine.

Research funding in Canada is primarily supported by organizations such as the Canadian Institutes of Health Research (CIHR) and Genome Canada. CIHR operates through 13 virtual institutes focused on areas such as genetics, cancer, and Indigenous health, promoting collaboration among researchers, health professionals, and policymakers. Genome Canada funds genomics research in areas like health, climate, and food systems. Setting research priorities involves understanding the mandates and strategic plans of funding agencies. Nursing genomics research priorities are informed by national health needs, emerging evidence, and input from professional and academic organizations.

Knowledge translation (KT) and knowledge mobilization (KM) are integral to bridging research and practice. KT emphasizes the application of research findings to specific fields, while KM promotes collaborative and inclusive approaches across disciplines. Examples include resources like the Genetics and Genomics Toolkit for Canadian Nurses and initiatives supporting genomic literacy among nurses. Policymakers, educators, and researchers play a critical role in developing tools, policies, and competencies to advance nursing genomics. Collaborative efforts among organizations and professionals are vital for integrating genomics into healthcare and nursing practice.

Resources

See Appendix A for a list of online resources for genomics.

Additional Optional Readings:

Guidelines for Genomic Data

World Health Organization. (2024, November 20). Guidance for human genome data collection, access, use and sharing. https://www.who.int/publications/i/item/9789240102149

Diversity in Genomics Research

  1. Fatumo, S., Chikowore, T., Choudhury, A., Ayub, M., Martin, A. R., & Kuchenbaecker, K. (2022). A roadmap to increase diversity in genomic studies. Nature Medicine, 28, 243–250. https://doi.org/10.1038/s41591-021-01672-4
  2. Koch, L. Global genomic diversity for All of Us. (2024). Nature Reviews Genetics,25, 303. https://doi.org/10.1038/s41576-024-00727-9

Developing Nursing Research Priorities

This is an older article which is in the process of being updated. However, this paper provides an excellent example of priority areas of nursing genomics research mapped to the National Institute of Nursing Research Strategic Plan.
  1. Genomic Nursing State of the Science Advisory Panel, Calzone, K. A., Jenkins, J., Bakos, A. D., Cashion, A. K., Donaldson, N., Feero, W. G., Feetham, S., Grady, P. A., Hinshaw, A. S., Knebel, A. R., Robinson, N., Ropka, M. E., Seibert, D., Stevens, K. R., Tully, L. A., & Webb, J. A. (2013). A blueprint for genomic nursing science. Journal of Nursing Scholarship, 45(1), 96–104. https://doi.org/10.1111/jnu.12007
  2. Lee, H., Gill, J., Barr, T., Yun, S., & Kim, H. (2017). Primer in genetics and genomics, Article 2-advancing nursing research with genomic approaches. Biological Research for Nursing, 19(2), 229–239. https://doi.org/10.1177/1099800416689822

Health Disparities

  1. 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
  2. Limoges, J., Chiu, P., Dordunoo, D., Puddester, R., Pike, A., Wonsiak, T., Zakher, B., Carlsson, L., & Mussell, J. K. (2024). Nursing strategies to address health disparities in genomics-informed care: a scoping review. JBI Evidence Synthesis, 22(11), 2267–2312. https://doi.org/10.11124/JBIES-24-00009

Public Trust and Ethics Review

  1. Samuel, G.N., & Farsides, B. (2018). Public trust and ‘ethics review’ as a commodity: the case of Genomics England Limited and the UK’s 100,000 genomes project. Medicine, Health Care and Philosophy, 21, 159–168. https://doi.org/10.1007/s11019-017-9810-1 
  2. Milne, R., Morley, K. I., Almarri, M. A., Anwer, S., Atutornu, J., Baranova, E. E., Bevan, P., Cerezo, M., Cong, Y., Costa, A., Critchley, C., Fernow, J., Goodhand, P., Hasan, Q., Hibino, A., Houeland, G., Howard, H. C., Hussain, S. Z., Malmgren, C. I., … Middleton, A. (2021). Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries. Genome Medicine, 13(1), 92–92. https://doi.org/10.1186/s13073-021-00903-0

Symptom Science

  1. Hickey, K. T., Bakken, S., Byrne, M. W., Bailey, D. E., Demiris, G., Docherty, S. L., Dorsey, S. G., Guthrie, B. J., Heitkemper, M. M., Jacelon, C. S., Kelechi, T. J., Moore, S. M., Redeker, N. S., Renn, C. L., Resnick, B., Starkweather, A., Thompson, H., Ward, T. M., McCloskey, D. J., Austin, J. K., & Grady, P. A. (2019). Precision health: Advancing symptom and self-management science. Nursing Outlook, 67(4), 462-475. https://doi.org/10.1016/j.outlook.2019.01.003.

Nursing Genomics Policy Research and Action

  1. Chiu, P., Limoges, J., Pike, A., Calzone, K., Tonkin, E., Puddester, R., Gretchev, A., Dewell, S., Newton, L., & Leslie, K. (2024). Integrating genomics into Canadian oncology nursing policy: Insights from a comparative policy analysis. Journal of Advanced Nursing, 0(0), 1–22. https://doi.org/10.1111/jan.16099
  2. Chiu, P., Limoges, J., Puddester, R., Gretchev, A., Carlsson, L., Leslie, K., Flaming, D., Meyer, A., & Pike, A. (2024). Developing policy infrastructure to guide genomics-informed oncology nursing in Canada: An interpretive descriptive study. The Canadian Journal of Nursing Research, 0(0), 1-14. Advanced online publication. https://doi.org/10.1177/08445621241252615
  3. Kurnat-Thoma, E., Fu, M. R., Henderson, W. A., Voss, J. G., Hammer, M. J., Williams, J. K., Calzone, K., Conley, Y. P., Starkweather, A., Weaver, M. T., Shiao, S. P. K., & Coleman, B. (2021). Current status and future directions of U.S. genomic nursing health care policy. Nursing Outlook, 69(3), 471–488. https://doi.org/10.1016/j.outlook.2020.12.006
  4. Puddester, R., Limoges, J., Dewell, S., Maddigan, J., Carlsson, L., & Pike, A. (2023). The Canadian landscape of genetics and genomics in nursing: A policy document analysis. Canadian Journal of Nursing Research, 55(4), 494–509. https://doi.org/10.1177/08445621231159164

Attribution & References

Key takeaways generated using ChatGPT. Prompt: “summarize this text in a few sentences, ignoring images, captions, citations and web references.” The output was then edited by Andrea Gretchev.

References

ChatGPT: OpenAI. (2024). ChatGPT (Version 4.0) [Large language model]. https://openai.com

License

Icon for the Creative Commons Attribution-NonCommercial 4.0 International License

Precision Healthcare: Genomics-Informed Nursing Copyright © 2025 by Andrea Gretchev, RN, MN, CCNE is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, except where otherwise noted.

Share This Book