1.3 The Contributions of Nursing Professionals in Genomics Healthcare
There is a wide variety of ways that healthcare professionals can contribute to providing genomic services. As technologies advance and genomics becomes increasingly integrated into routine practices, new roles will emerge.
Visit the NHS Genomics Education Programme website (from the United Kingdom) – Careers in Genomics, to learn more about some of the interdisciplinary team members that nurses will work with.
To learn more about different practice contexts and medical specialties, visit the Genomics Education Programme website’s section on Genomics in Healthcare.
Nurses’ Contributions to Genomics
Watch this short video on the relevance of genomics to nursing practice. This video briefly overviews some critical takeaways nurses will gain from reading this book.
Watch Nursing in the Genomic Era (3 mins) on YouTube
Video source: Genomics Education Programme. (2018, March 5). Nursing in the Genomic Era [Video]. YouTube. https://www.youtube.com/watch?v=LaHSMJGUco8
Why should nurses understand basic genomic principles?
Genomics plays a role in every aspect of nursing, which includes providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Genomic principles form the foundation for disease pathophysiology
- Genomics underlies all diseases
- Genomics contributes to our understanding of the mechanisms of disease
Genomics principles influence clinical actions
- Genomics knowledge supports clinical practice and potential interventions (e.g., newborn screening tests).
- Obtaining genomic information about a patient can change recommendations for prevention and screening (e.g., recommendations for annual MRI with elevated breast cancer risk).
- Genomics affects pharmacokinetics and pharmacodynamics, affecting drug selection and dose (e.g., antidepressants, anticoagulants).
Understanding genomic principles facilitates communication with patients and family members and supports genomics-informed care
- Patients often need help understanding how genomics influences their health and the health of their family members.
- Effective patient and family education requires foundational knowledge of genomics.
- Nurses can help patients understand how genomics affects disease risk.
- Ethical nursing care includes understanding the ethical considerations of genomic healthcare (e.g., right not to know).

In What Settings Can Genomics be Used?
Genomics is used in all practice settings across all aspects of nursing care, including educating patients and families, administering medications, advocating for health promotion and disease prevention and interpreting family histories.
While all nurses will encounter genomics at some point in their practice, there are particular areas where genomics is highly relevant, such as oncology, pediatrics, and maternity. As new genomics applications are developed, these areas are likely to increase.
Rare disease
Nurses who care for patients with rare diseases support these families and help them through the health and social care system. Some nurses specialize in a particular rare condition, such as:
- Familial hypercholesterolemia: These roles usually involve identifying and supporting affected families. You can read more about this work here: North East and Cumbria [PDF].
- Monogenic diabetes: Specialist genetic diabetes nurses support patients with this rare form of diabetes and their families and increase recognition and diagnosis of monogenic diabetes among healthcare professionals. More information can be found on the Diabetes Genes website.
Advanced practice settings
Nurses working as experts in a particular clinical area, such as oncology, cardiology or pediatrics, will increasingly be trained to manage patients with inherited genetic conditions and targeted treatments. Keeping abreast of rapid developments in genomics is a vital part of the role of many specialisms. Here is an example of the work that a clinical nurse specialist with expertise in genomics may do [PDF], with a special focus on renal medicine.
As new initiatives are developed, it is often appropriate for advanced practice and specialist nurses to become involved with service development to help meet patient needs and address patient demands, aiming to improve patient outcomes. Advanced practice and specialist nurses are uniquely situated to provide these services.
Research
Although advances in genomics have been rapid and impressive, we still have a long way to go. Ongoing research is vital to ensure that all patients can benefit. There are many opportunities to be involved with research projects as a nurse, and you may choose to specialize in this area. The work may include developing hypotheses, recruiting patients to research projects, training other staff members, collecting and analyzing data, and caring for and communicating with those involved. Nursing research in genomics will be explored further in a subsequent unit.
How Can Nurses Apply Genomics to Practice?
- Record and interpret a comprehensive family history to identify risk for heritable genetic conditions.
- Understand the genomic basis for specific health conditions and the associated prognosis.
- Recognize newborn risk for morbidity and mortality based on identified genetic conditions.
- Identify risk for asymptomatic individuals with high risk for hereditary cancers.
- Advocate for interventions based on individual genetic needs.
- Facilitate screening and follow-up for individuals with known genetic conditions.
- Encourage genetic testing for at-risk family members.
- Obtain and verify informed consent.
- Ensure understanding of all risks, benefits, and limitations of genetic testing and research.
- Use current credible information to answer questions about genomic information or services and assess for understanding.
- Identify at-risk populations.
- Form empathetic relationships to support individuals and families at risk for or affected by genetic conditions.
- Educate individuals, families, and communities about the role of genomics in medication response.
- Discuss and educate about the function of the new genomics-based vaccine.
How Are Nurses Prepared and Positioned to Provide Genomics-Informed Care?
Nurses practice from a holistic viewpoint. Nurses consider patients, families and communities within their contexts.
- Genomics must be considered in context, including patients’ genomic information, clinical presentation and the environments in which they live.
- Nurses consider ethical, legal and social issues for individuals and families.
Nurses have a central position in the healthcare team and interact the most with patients.
- Nurses are central to interdisciplinary communication and coordination.
- Nurses translate and relay the concerns of patients and family members to the healthcare team.
Nurses have an optimal skill set for applying genomics in all practice settings and roles. Nurses apply genomics principles at the bedside, in the community, in policy and research.
- Nurses are skilled at obtaining individual and family histories to provide critical information for genomics-informed care.
- Nurses obtain and analyze data from physical assessments, individual and family histories, laboratory tests and other sources.
- Nurses plan and implement interventions central to genomics-informed care.
- Nurses champion patient education and translate complex topics into lay terms.
- Nurses are ethical practitioners prepared to advocate for patient needs.
Concept in Action
This podcast (approx 5min) features Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomics England and the new Chair of the Global Genomics Nursing Alliance, also known as ‘G2NA’. Christine talks about the influence of genomics on nursing practice and how nurses need to be aware of its potential in patient care. She also talks about the work of the G2NA and other international collaborations to raise the genomics profile. She discusses the need for genomics to become an established part of nursing training.
Source: Health Education England’s Genomics Education Programme (GEP)
Read
Dewell, S., Benzies, K., & Ginn, C. (2020). Precision health and nursing: Seeing the familiar in the foreign. The Canadian Journal of Nursing Research, 52(3), 199–208. https://doi.org/10.1177/0844562120945159
Fu, M. R., Kurnat-Thoma, E., Starkweather, A., Henderson, W. A., Cashion, A. K., Williams, J. K., Katapodi, M. C., Reuter-Rice, K., Hickey, K. T., Barcelona de Mendoza, V., Calzone, K., Conley, Y. P., Anderson, C. M., Lyon, D. E., Weaver, M. T., Shiao, P. K., Constantino, E. E., Wung, S., Hammer, M. J., Voss, J. G., Coleman, B. (2020). Precision health: A nursing perspective,
International Journal of Nursing Sciences, 7(1), 5-12. https://doi.org/10.1016/j.ijnss.2019.12.008.
Genomics-Informed Nursing Policies
Nurses typically rely on policy to guide practice. Examples of nursing policies include professional or practice standards, scope of practice, competencies, practice guidelines, and educational frameworks. Currently, in Canada, there are no policies to guide genomics-informed nursing (Puddester et al., 2023). The United States and the UK have modelled the way about interdisciplinary genomics integration. These countries have developed evidence-based competencies for nurses delivering genomic services. One aspect of preparing the health system for genomics integration is developing policies for healthcare professionals, including nurses, to delineate roles and responsibilities and foster the development of genomic literacy.
Briefly review the following documents. As you progress through each chapter in this book, consider the competencies you are beginning to develop. The unit overview sections will list the competencies developed in each unit.
- NHS. (2023). Genomic competency framework for UK nurses.
- ANA. (2023). Essentials of genomic nursing: Competencies and outcome indicators (3rd ed.).
Note: the ANA website will request some personal information, including an email address, to distribute the competency document.
Genomics Organizations for Nurses and Other Healthcare Professionals
The following organizations offer member benefits, including continuing professional development, practice resources, conferences, journals, scholarships, grants, and more. These organizations also offer opportunities to provide policy input or for nurses to get involved in governance.
Most of them offer student discounts for membership and conference attendance.
- The International Society of Nurses in Genetics (ISONG)
- Global Genomics Nursing Alliance (G2NA)
- The Canadian College of Medical Genetics (CCMG)
- The American College of Medical Genetics (ACMG)
- The American Society of Human Genetics (ASHG)
- Oncology Nursing Society (ONS) – not specific to genomics but has excellent education resources on cancer genetics.
Attribution & References
Except where otherwise noted, content on this page is adapted from:
- Genomics in Health Care by Genomics Education Programme, CC BY-NC 4.0
- Genomics FAQ for Entry-level Nurses, Courtesy of National Human Genome Research Institute, Public Domain with attribution
- Genomics in Nursing: Roles for Nurses by Genomics Education Programme, CC BY-NC 4.0
Adaptations include combining content from the 3 pages, minor edits and addition of links to improve student understanding.
References
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. The Canadian Journal of Nursing Research, 55(4), 494–509. https://doi.org/10.1177/08445621231159164