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Personalised medicine and precision health are growing in awareness among health consumers, patients and carers. Precision health is underpinned by genomics, an exciting field full of potential in coming years. However, for most nurses and midwives, genomics is still a future focus.

This month’s Community of Practice discussion topic is focusing on the impact of genomics on nursing and midwifery.

The Garvan Global Genomics Report back in 2018 claimed that genomics was disrupting the healthcare sector through affordable, rapid DNA sequencing, even causing a revolution in medicine and healthcare globally.

This article explores genomics and its potential to revolutionise healthcare. How will nurses and midwives be engaged today and in the future?

In 1988 an international research collaborative effort known as the Human Genome Project articulated their aspiration of sequencing the 3 billion DNA letters, so that linkage maps could finally identify inherited traits that could be tracked over generations. In 2003, the complete human genome sequence was revealed, two years ahead of schedule and at a cost less than the original budget (National Human Genome Research Institute [NHGRI] 2018a). Genomics describes the study of all a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment, whereas genetics refers to the study of genes and their roles in inheritance (NHGRI 2018b).

Human genetic variation and their interactions began to redefine the perception of the health-illness continuum and led to the rise of a new field that takes advantage of this science – that of precision health. According to the AIDH Precision Health Community of Practice, this area of healthcare – ‘seeks and analyses a wide range of information, such as clinical observations, biomarkers (including genomics) and patient generated data’ and ‘triangulates this information within the context of lifestyle, behaviour, environment and medical history to inform and personalise prevention, diagnosis, and treatment at an individual, patient cohort and population level (AIDH Precision Health Community of Practice n.d.). It is anticipated that this will improve prevention, screening, diagnosis, prognosis, treatment selection, and monitoring of therapy effectiveness (Calzone et al. 2012). McCormick & Calzone (2016) indicate that genomics will refine estimates of the risk of disease in the prenatal, newborn, childhood, and adult contexts, as well as providing additional tools for screening and assist in matching medication options to patients’ responder or adverse event profiles. Genomic testing is particularly important in oncology, for the diagnosis of subtypes of certain cancers and for selecting optimal treatments.

The increasing scope of precision health has resulted in genomics emerging as an essential science for all health professionals, given there is a genomic aspect to virtually every disorder, including why some people are more severely impacted by pathogens than other, such as COVID-19 susceptibility, thrombosis with thrombocytopenia syndrome adverse events to the AstraZeneca vaccination, and myocarditis associated with the Pfizer vaccination. Its implications on nursing and midwifery practice are now being addressed in the literature, given genetic testing will intersect with the ethical issues of autonomy, decision making, privacy, and discrimination (Limoges & Carlsson 2020). Rather than focusing on the genotype (unique sequence of DNA responsible for a particular trait), it will become expected practice to capture and record an individual’s phenotype (detectable expression of the results of genes, combined with the environmental influence) information to support genomic analysis.

Interrogation of the relationship between a genotype and a clinical phenotype will be greatly assisted by high quality data captured in electronic medical records and the national My Health Record system (Hansen et al. 2019). Hansen et al. (2019) highlight that Australia is now facing the technical, ethical and social challenges of how healthcare organisations should use this information to improve the healthcare of all Australians and will rely on recommendations from the Australian Genomics Health Alliance (Australian Genomics n.d.). As genomics moves to become an integral and routine component of healthcare, nurses and midwives will be required to respond to queries about genetic testing from the individuals in their care.

Several countries have realised the necessity to prepare the nursing and midwifery workforce to deliver proficient genomics-focused care, such as the United Kingdom (UK), United States, Canada, and Australia. Many international groups are also forming to transform nursing and midwifery to incorporate genomics into their care delivery (Hu et al. 2018). The International Society of Nurses in Genetics (ISONG) began in 1988 to serve the nurses who were engaged in genetic and genomic healthcare at all levels of policy, education, research, and clinical practice, and the Global Genomics Nursing Alliance (G2NA), established in 2017, serves as a unified international voice for advancing and integrating genomics into nursing practice.

Both professions need to be knowledgeable about genetics and genomics, yet it is difficult to locate genetic or genomic content in Australian undergraduate or postgraduate curriculums (Thompson & Brooks 2011). In fact, a recent study by Wright et al. (2019) highlighted that the genomic literacy of registered nurses and midwives in Australia is low, similar to international studies.

Valuable bespoke courses and projects are appearing in Australia and overseas:

  • Australian College of Nursing (ACN) published a position statement last year addressing nurses, genomics and clinical practice (ACN 2020). The ACN state that ‘translating genomic evidence into nursing practice creates a genuine person-centred approach that delivers high quality personalised care to individuals. Genomic literacy builds a nursing and midwifery workforce that is workplace ready, contemporary, and agile’ (ACN 2020, p. 1).
  • Queensland Genomics, a Queensland Government initiative, has developed an education course for nurses and midwives, established 11 new nursing positions to embed genomics into mainstream nursing and midwifery practice, and delivered a digital genomics blueprint for Australia to guide implementers and policy makers in the sharing of genomics information.
  • Genomics is now included in the UK Nursing & Midwifery Council standards of proficiency for midwives (Domain 3 The midwife’s role in assessment, screening and care planning, Domain 6 Assessment, screening, planning, care and support across the continuum) and registered nurses (Doman 2 Promoting health and preventing ill health, Domain 3 Assessing needs and planning care, Domain).
  • The American Nursing Association has developed competencies and curricula guidelines (Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators 2nd edition) and offers two open source resources – A resource guide for learning about genetics and Basic genetics and genomics: a primer for nurses.
  • A pan-Canadian Delphi study in 2018 (Nursing practice in the genomic era: A Canadian initiative) identified six areas deemed to be highly important – resources, education strategies, research, education, leadership strategies and competencies, and a position statement.

Nursing and midwifery have always adapted to technological advances and developments in health knowledge, and the impact of genetics and genomics on how we deliver our care is yet another area that needs to be recognised and embraced. Advances in genetic and genomic research and biobanking, the collection and storage of biospecimens, the expanding occurrence of large-scale population studies and genomic databases, and the emergence of genetic counselling will challenge our traditional concepts of informed consent, and perhaps lead us to embracing a new model of consent (Vears et al 2020). Nurses and midwives, as the largest clinical group in the healthcare workforce, can influence how precision health information will be integrated into healthcare, but the current gaps need to be addressed and a national roadmap developed.

Dr Jen Bichel-Findlay, July 2021

Further information on these options can be found at the AIDH N.M website.

Have your say by logging into the Nursing.Midwifery community group on SocialLink.

Dr Jen Bichel-Findlay FAIDH CHIA

Dr Jen Bichel-Findlay FAIDH CHIA

Chair, Nursing and Midwifery Community of Practice, AIDH


AIDH Precision Health Community of Practice n.d. What is the definition of precision health? AIDH. Available here

Australian College of Nursing (ACN) 2020 Nurses, genomics and clinical practice. ACN. Available here

Australian Genomics n.d. About us. Australian Genomics. Available here

Calzone KA Jenkins J Yates J Cusack G Wallen Gr Liewehr DJ Steinberg SM & McBride C 2012 Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship, 44(4), 428-436.

Consensus Panel on Genetic/Genomic Nursing Competencies 2009 Essentials of genetic and genomic nursing: competencies, curricula guidelines and outcome indicators (2nd ed.). American Nurses Association: Silver Spring, MD.

Global Genomics Nursing Alliance (G2NA) n.d. Welcome to the Global Genomics Nursing Alliance. G2NA.
Available here

Hansen DP Dinger ME Hofmann O Thorne N & Boughtwood TF 2019 Preparing Australia for genomic medicine: data, computing and digital health. Medical Journal of Australia, 210(6), S30-S32.

Hu J Yu L Modanloo S Zhou Y & Yang Y 2018 A theoretical framework for interaction of nursing discipline with genetics and genomics. International Journal of Nursing Sciences, 5(2018), 336-342.

International Society of Nurses in Genetics (ISONG) n.d. About us. ISONG. Available here

Lea DH 2009 Basic genetics and genomics: A primer for nurses. OJIN: The Online Journal of Issues in Nursing, 14(2). Available here

Limoges J & Carlsson L 2020 Nurses poised to play key role in advancing precision care through genetics and genomics. Canadian Nurse. Available here

Maradiegue A 2008 A resource guide for learning about genetics. OJIN: The Online Journal of Issues in Nursing, 13(1), Manuscript 6.

McCormick KA & Calzone KA 2016 The impact of genomics on health outcomes, quality, and safety. Nursing Management, 47(4), 23-26.

Nursing & Midwifery Council (NMC) 2019 Standards of proficiency for midwives. NMC. Available here

Nursing & Midwifery Council (NMC) 2018 Standards of proficiency for registered nurses. NMC. Available here

National Human Genome Research Institute 2018a The human genome project results. National Institutes of Health. Available here

National Human Genome Research Institute 2018b Genetics vs. genomics fact sheet. National Institutes of Health. Available here

Queensland Genomics 2021 Queensland genomics July 2016-June 2021: accelerating change in healthcare. Queensland Genomics. Available here

Thompson JF & Brooks MV 2011 Genetics and genomics in nursing: evaluating essentials implementation. Nurse Education Today, 31(6), 623-627.

Vears DF Borry P Savulescu J & Koplin JJ 2020 Old challenges or new issues? Genetic health professionals’ experiences obtaining informed consent in diagnostic genomic sequencing. AJOB Empirical Bioethics, 12(1), 12- 13.

Wright H Zhao L Birks M & Mills J 2019 Genomic literacy of registered nurses and midwives in Australia: a cross-
sectional survey. Journal of Nursing Scholarship, 51(1), 40-49.

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