The Human Genome Project’s initial sequencing of the human genome in 2003 marked the beginning of the “genomic era” (Collins et al., 2003). Unfolding discoveries over the past 2 decades have transformed our understanding of health and illness contributing to improved health outcomes by enabling earlier diagnosis, identifying disease risk for early intervention, and via tailored treatments (i.e., precision healthcare). Genomics is a lifespan competency with relevance across the lifespan (Calzone et al., 2013a). For example, genomics is used for preconception/prenatal testing for inherited conditions and chromosomal anomalies (i.e., aneuploidies). It is relevant for newborn screening, as well as identifying disease susceptibility. In childhood, adolescence, and adulthood, genomics is a key screening tool that informs screening recommendations, risk reduction interventions, and enables diagnosis. Moreover, genomics can aid in determining prognosis, guiding treatment decisions, and monitoring disease burden as well as disease recurrence (Calzone et al., 2013a). Genetic testing has shifted from specialty clinics (e.g., cardiac and oncology) and is now integrated into healthcare settings as another tool to inform healthcare decision making.

Early in the “genomic era”, nurses were called to be involved in genomic healthcare (Jenkins et al., 2005). Nurses are the most numerous of trained healthcare professionals with a global workforce of 29 million worldwide (Boniol et al., 2022). Nursing scope of practice spans a broad range based on academic preparation and clinical training–including advanced practice registered nurses (APRNs, e.g., nurse practitioner, nurse midwife) whose scope of practice includes assessing, diagnosing, and treating (i.e., prescriptive authority). A recent publication has reported healthcare provider-oriented outcomes (clinical and educational) related to nursing and genomics (Thomas et al., 2023) - yet consumer-oriented (patient and family) outcomes have yet to be systematically examined. With the move to improve and increase access to genomic testing, more healthcare professionals/nurses than ever before are likely to encounter patients and their families who are undergoing or have undergone genomic testing (White et al., 2020). Genetic counseling (GC) is an established discipline in the United States (United States), the United Kingdom (U.K.), and some other countries yet there are only approximately 7,000 genetic counsellors worldwide (White et al., 2020). For example, in Canada genetic counselors are largely unregulated/have no legal recognition, and there are only 484 total in Canada, which equals 1.28/100,000 population (Lambert et al., 2022). Moreover, there is unequal distribution, with 89% of the genetic counselors in Canada located in four provinces, leaving one province and two territories with zero genetic counselors (Abacan et al., 2019) In contrast, there are approximately 29 million nurses globally and nurses perform aspects of genetic counseling in many parts of the world (Lambert et al., 2022). Despite nursing’s involvement in genomic healthcare, there is little data related to outcomes from nursing involvement.

A 2012 project aiming to establish a “blueprint” for genomic nursing science (Calzone et al., 2013b) attempted to conduct a systematic review to identify and assess evidence of improved patient outcomes of care delivered by nurses with genomic competencies (i.e., “What health outcomes are associated with nursing care which incorporates genetic and genomic principles, technology and information?”) (Calzone et al., 2013b). The literature search (up to May 2012) only identified 7 of 415 (1.7%) articles meeting inclusion criteria (Calzone et al., 2013b). Thus, nearly a decade into the “genomic era”, there was insufficient evidence for a qualitative synthesis to address the question about genomic nursing outcomes. Since 2012, evidence-based applications supporting genomics in practice have grown - i.e., Clinical Pharmacogenetics Implementation Consortium (CPIC) (Relling and Klein, 2011), National Comprehensive Cancer Network (NCCN) (NCCN, 2024). Accordingly, it seems timely to re-evaluate outcomes for genomic nursing to enable nurses to use omics (i.e., genomics, proteomics, metabolomics, metagenomics, phenomics, transcriptomics) in their practice.

This study aimed to chart nursing and/or midwifery involvement in genomics (2012–2022) since the previous attempt to conduct a mixed-methods systematic review of the literature in 2012 (Calzone et al., 2013b). We conducted a systematic scoping review of the literature to identify the current state of genomics in nursing/midwifery and address the broad question “What outcomes are associated with nursing and midwifery practice that incorporates Omics research, principles, technology and information?”. Sorting identified articles according to the Cochrane Collaboration outcome taxonomy (Dodd et al., 2018). Herein, we report on consumer-oriented outcomes (2012–2022). Consumer oriented outcomes refer to outcomes that are directly relevant and meaningful to patients and their caregivers (i.e., quality of life, functionality and daily activities, adverse and side effects, etc.) (Hill). This scoping review provides a summary of the current landscape of consumer-oriented outcomes from nursing involvement in genomic healthcare and highlights future directions for nursing and genetic counseling to meet the burgeoning demand for genomic healthcare.

We conducted a systematic search of the literature and scoping review guided by the Arksey and O’Malley framework (Arksey and O'Malley, 2005; Tricco et al., 2016). The six steps of the framework include: i.) identifying the research question; ii.) identifying the relevant literature; iii.) selecting the literature; iv.) charting the data; v.) collating, summarizing, and reporting results; and vi.) synthesis of results. No human subjects were involved in this scoping review. As such, this project was exempt from ethics board review. No registered protocol is associated with this scoping review and no public or patient involvement occurred in relation to the scoping review. Covidence™ systematic review software (Covidence systematic review software, 2023) was employed for the literature search and review of identified articles. Study findings are reported using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for the reporting of scoping reviews (PRISMA-ScR) (Tricco et al., 2018).

The systematic, structured literature search identified 8,532 articles. After duplicates were removed 8,448 articles underwent title and abstract review. After screening, 7,833 articles were excluded, leaving 615 articles for full-text review. Full-text review yielded 232 articles for analysis (Thomas et al., 2023). The PRISMA flow diagram (Figure 1) outlines the review process and reasons for exclusion.

Overall, the 232 included studies consisted of publications from 33 different countries, primarily conducted in high income countries (Thomas et al., 2023). Included studies were classified according to the Cochrane Collaboration outcome taxonomy (Dodd et al., 2018). Three outcomes were identified: i.) “healthcare provider oriented outcomes” 126/232 (54.3%) (Thomas et al., 2023), ii.) “consumer oriented outcomes” 67/232 (28.9%), and iii.) “health service delivery outcomes 39/232 (16.8%). This article reports findings of articles relating to “consumer-oriented outcomes”. A summary table with study characteristics and key findings for included consumer oriented articles is provided in Supplementary Material.

Our systematic scoping review of the literature (2012–2022) identified that only 29% of identified articles on genomics in nursing related to the consumer-oriented Cochrane outcome domain. A notable finding is that articles reporting consumer-oriented outcomes showed a relatively steady, linear growth in number of publications per year. This observation is interesting as one might expect that there would be an uptick in number of consumer-oriented outcomes in the published literature given the more widespread utilization of genomic healthcare and genetic testing from 2012-2022. The linear growth of publications may reflect a bias of ascertainment as it is plausible that consumer-oriented outcomes have been recorded and measured yet not published. Indeed, it is plausible that work from middle and low income countries may have been undertaken yet not published. The possibility may help explain why the identified articles were primarily from high income countries.

We identified articles relating to six of nine consumer-oriented sub-domains and one study classified as ‘other’ (theory development). None of the identified articles had a primary focus on the subdomains of ‘support’, ‘skills acquisition’, or ‘communication’. Notably, the absence of three subdomains help inform findings from other subdomains and point to future directions for therapeutic education supporting more person-centered approaches to genomic healthcare. Moreover, while all three subdomains are connected to the key nursing function of therapeutic education, they are also implicated in decision-making. Decision-making falls under the ‘Patient involvement in care’ that was the most frequently reported sub-domain (25% of identified articles). It is perhaps not surprising that decision-making has been a significant focus as genetic testing has emerged from specialty clinics into mainstream primary care. Identified articles primarily focus on challenges related to genetic testing and decision-making (Newcomb et al., 2019; Hanish et al., 2018a; Li et al., 2016; Cherry et al., 2013) (Cohen and McIlvried, 2013). Nurse-led interventions effectively improve confidence and satisfaction with genetic testing decision-making (Paljevic, 2020; Dixon and Burton, 2014; Martin et al., 2013) (Cohen and McIlvried, 2013). Overall, studies examining ‘patient involvement in the care process’ provide a deeper understanding of patients’ lived experiences and help inform more person-centered approaches to counseling that support high quality decisions (i.e., informed and aligned with values and preferences).

In light of the growing shortage of certified GCs to meet the growing demand for decisional support (Hoskovec et al., 2018; Berninger et al., 2021), there is a need for nurses and GCs to work collaboratively, and at the top of their license to meet the burgeoning demand for decisional support (Box 1). Future direction may include interprofessional studies and nurse-led interventions addressing the key need for pre-test counseling, decisional support, and “patient involvement in the care process”. One example of such patient involvement comes from a publication reporting co-creation of patient facing materials to help patients understand their genetic test results (Dwyer et al., 2021). While not identified in our literature search, this article involved nurses, GCs, physicians, and patients to co-create high-quality, patient-facing educational materials and best practices have been identified for co-creating patient-facing materials (McDonald et al., 2023).

The ‘knowledge and understanding’ subdomain was the next most common highlighting patient information gaps and unmet knowledge needs (Almomani et al., 2020; Underwood and Kelber, 2015; Itzhaki, 2018; Silva et al., 2013) - suggesting a need for more targeted educational interventions that support comprehension of the implications of genetic information and testing. Notably, these themes somewhat parallel the decision-making challenges identified in themes in the ‘patient involvement in the care process’ domain. Taken together, nearly half (46%) of all ‘Consumer-Oriented Outcomes studies’ studies coalesce high-quality decision themes, i.e., informed (knowledge deficits, information gasps) and aligned with values and preferences (i.e., decisional support). There is an opportunity for greater interprofessional collaboration (starting with interprofessional education and continuing into interdisciplinary clinical practice). The Inset Box highlights future direction for workforce development in this area as well as using technology as an additional modality to address information and knowledge gaps and for decisional support (Baroutsou et al., 2023).

Articles in the ‘evaluation of care’ subdomain reported addressing unmet patient educational needs (Murray et al., 2015; Appel and Cleiment, 2015; Rad et al., 2022) as well as increased satisfaction with nurse-led genetic counseling (Hamilton, 2012; Chandrasekaran et al., 2021; Laws et al., 2016; Platten et al., 2012) and testing support (Platten et al., 2012). It is worthwhile to note that among identified articles, nurses were primarily involved in pre-test counseling and support. Given the global shortage of GCs (Hoskovec et al., 2018; Berninger et al., 2021) and the limited uptake of cascade screening (Afaya et al., 2024), nurses could play a key role in working with patients and families to amplify cascade screening efforts and enhance equity and access to genomic healthcare thereby addressing disparities (Katapodi et al., 2023). Moreover, increased nursing involvement in pre-test counseling and decisional support could enhance healthcare delivery efficiency by enabling GCs to focus on test interpretation, post-test genetic counseling, cascade predictive familial care, giving tailored and personalized information, and support reproductive options to inform patient-led decisions. Cumulatively, data indicate that nurses can effectively deliver therapeutic education around genetic testing and are capable of providing pre-test counseling that meets the needs of patients and families. Similar to “evaluation of care”, articles reporting on the ‘health behavior’ subdomain highlighted unmet educational needs (Katapodi et al., 2018; Jones et al., 2020; Seven et al., 2017) that were amenable to nurse-led educational interventions as evidenced by increased satisfaction and screening (Salimzadeh et al., 2018; Ingrand et al., 2016; Visser et al., 2015). These data identify opportunities for synergy between nursing and GCs to help grow workforce competency in decision support and pre-test genetic counseling.

It is worthwhile to note that nursing practice occurs across the continuum of care providing multiple, ongoing opportunities for individuals and families to engage with nurses across the lifespan within both inpatient hospital and ambulatory community settings. This is somewhat in contrast to encounters with genetic counselors that typically follow referral and may be single or series of encounters. As such, emphasis needs to be placed on interprofessional collaboration and developing ways to enhance the effectiveness of each aspect of an individual’s or family’s care with genetic information. A unique opportunity for cross-discipline collaboration in expanding access to genomic healthcare is the fact that nursing practice spans the entire continuum of care. As such, embedding genomic nursing competencies into nursing education (Thomas et al., 2023) can help create a workforce that can nimbly help patients and families navigate genomics healthcare across the continuum of care. Importantly, published competencies for nurses in the U.K. and United States of America have recently been updated (Calzone et al., 2024; NHS, 2023). The essentials codify the skills required to for registered nurses to provide pre-test genetic counseling and correctly select diagnostic genetic tests. Currently, the Global Genomic Nurses Alliance (G2NA) is working to establish global nursing competencies in genomics applicable to all nurses irrespective of education preparation, role, or health service design (Patch and Middleton, 2019).

The sub-domains of ‘health status and wellbeing’ include reports from nurse scientists examining the influence of genetic factors on treatment outcomes as well as health-related quality of life (Jiajia et al., 2016; Withycombe et al., 2022; Anderson et al., 2021; Resnick et al., 2016; Koleck et al., 2014; Alexander et al., 2014; Voss et al., 2013). Articles on ‘treatment outcomes’ were rather scant and tended to center on adverse reactions and how genetic testing and/or pharmacogenomics can help mitigate adverse reactions (Kashani et al., 2015; Moraes et al., 2020; Henker et al., 2016). Our validation step of including 2 GCs aimed to contextualize the findings in light of the significant focus on genetic testing/screening and decisional support/genetic counseling among the ‘Consumer-oriented’ outcome articles identified in our systematic search. The interprofessional discussion identified several key aspects including opportunities for cross-discipline collaboration and interprofessional education of healthcare professionals to develop and enhance genomic competencies.

It merits noting that most publications on GC show that there is not enough supply to meet the growing demand for genomic healthcare (Hoskovec et al., 2018; Berninger et al., 2021). While nursing and GC are distinct disciplines, there are overlaps including a shared emphasis on a person-centered approach and holistic, psychosocial support. Both nurses and GCs work across the lifespan from preconception to adult care in complementary yet different roles. The GC’s role primarily focuses on selecting/ordering the correct test given the familial context, providing accurate risk assessment, interpreting genetic variants, providing reproductive information and referrals for ongoing care. Nurses may perform aspects of genetic counseling (e.g., pre-test decisional support) in a diagnostic setting and nursing’s role concentrates on providing comprehensive, holistic across the care continuum (e.g., prior to diagnosis through treatment and providing care coordination as well as long-term follow up) for germline and somatic variants as well as pharmacogenomic results. With evolving models of care that incorporate genomics, future directions should involve closer collaboration to identify areas for the respective disciplines to function in a complementary manner while working at the top of their respective licensure. Genetic counselors supporting non-genetic specialist colleagues who are integrating genomics into their clinical practice and ensuring that ‘their knowledge and skills are appropriately translated to others’ has been advocated for some time (Patch and Middleton, 2019; Patch and Middleton, 2018).

Examples of interdisciplinary collaboration between nurses and GCs in the delivery of genomic care exist in mainstreaming programs (O'Shea et al., 2021a). Such programs initially began in cardiology (Kirk et al., 2012) as well as oncology care (O'Shea et al., 2021b) and have now expanded to other areas including renal, and ophthalmology settings where nurses and doctors are responsible for pre-test genetic counseling and consenting to genetic testing. The collaborative nature of care highlights the importance of delineating responsibility for the different aspects of the genetic counseling process and continuum (O'Shea et al., 2020). Nurses working in oncology or general care can upskill in the area of pre-test genetic counselling, consenting and test ordering for the disease context. While genetic counsellors are responsible for the post-test counselling and holistic familial care when a hereditary condition is identified or in the context of uncertain results, further genetic testing, reproductive information or when genetic risk assessments are required. As detailed in the outcomes of the studies in this review, the ongoing co-ordination of treatment, disease risk management and follow up care for the hereditary condition is in the realm of nursing care and will enhance hereditary disease survivorship and improve outcomes.

An emerging opportunity for collaboration between nurses and GCs on multidisciplinary teams is the use of exome/genome sequencing in inpatient settings, such as neonatal intensive care units (NICUs). Currently, GCs carry a large patient load providing pre- and post-test counseling, ordering tests, tracking results, and disclosing results to families. Nurses are ever present in the hospital setting yet are relatively underutilized for such tasks despite their thorough patient knowledge and relationship with families (Poston et al., 2019; Shields). Indeed, a study by Shields (Shields) highlighted that NICU nurses desire additional genetics knowledge to help increase their confidence in serving this patient population. The current scoping review suggests, genetic counsellors and nurses can work together to create resources for colleague training, offer ongoing education as new information becomes available, address ethical challenges as they arise for patients and families (e.g., secondary and/or incidental findings), and provide person- and family-centered care within the scope of their individual practices.

To ensure scalability of genomics into healthcare and improve patient-oriented outcomes, genomics must be embedded in nursing education curricula and be part of continuing professional development for practicing nurses. A comprehensive review of healthcare provider-oriented outcomes (clinical and educational) are detailed in a recent publication (Thomas et al., 2023). Educators seeking key genomics teaching resources can access them online through the International Society of Nursing in Genetics (ISONG, https://www.isong.org/ed-resources-repository) and the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG, https://www.genome.gov/ISCC-PEG). To integrate genomics into nursing will require an upskilling of nursing academic and continuing education faculty in genomics as well as supporting resources such as model curricula. Measuring and evaluating genomic nursing competencies will help identify areas to improve and expanding a competent nursing workforce to help realize the full potential of genomic healthcare. The process of genetic counselling is amenable to interdisciplinary collaboration with clear delineation of the practice competencies that are complementary between genetic counselors and nurses.

This special edition Research Topic has a particular focus on moving the field of human and medical genomics forward. Our scoping review highlights significant workforce challenges in meeting the growing application of genomic healthcare and precision medicine. Beyond the future directions noted in the Inset Box, broader initiatives are needed to boldly propel the field. First, re-envisioning the healthcare workforce could be a disruptive innovation for mainstreaming genomic healthcare implementation. Enhanced cross-professional dialogue and collaboration between nursing, genetic counseling and other clinicians could harmonize roles and expectations (i.e., scope of practice). For example, nurses could provide the vast majority of initial steps in the genomic healthcare continuum by identifying individuals and families who could benefit from genomic healthcare and providing information and pre-test counseling and decision support. Having nurses work at the top of their licensure and scope of practice could free GCs to focus on interpretation and subsequent healthcare decisions.

In parallel, public campaigns could support this expanded role by educating the public on nursing as integral for healthcare delivery. For example, advanced practice nurses assess, diagnose and treat (i.e., prescribe medications) and registered nurses regularly administer prescribed medications and monitor response to treatment and adverse side effects (e.g., toxicities). Thus, it is important to educate the public that professional nursing demands specialized knowledge, clinical skills, and interpersonal expertise. Increased funding of nursing research is needed to create a robust evidence base supporting best practices for person-centered genomic healthcare and decision support. Establishing best practices would not only inform improved clinical care but also help refine nursing competencies so educators and nursing schools can prepare the next-generation of nurses with required knowledge, skills and competencies to improve consumer oriented outcomes.

The emergence of artificial intelligence (AI), machine learning (ML), and large language models (LLMs) provide new opportunities to scale access to genomic healthcare. For example, chat bots leveraging LLMs could be developed using principles of human centered design to provide asynchronous decisional support thereby bridging geographic barriers to genomic healthcare for underserved communities and those living in rural or geographically remote areas. Unlike clinicians, such in silico approaches do not sleep. Algorithms utilizing AI/ML could be employed to run in the background of electronic health records to identify symptom clusters and family history clues to enhance detection and referral of individuals who may benefit from genomic healthcare. Such a data driven approach would also help surmount health disparities as technology lacks heuristics and implicit biases that contribute to health inequities.

Relative strengths of the investigation include the use of a well-established framework for scoping reviews (Arksey and O'Malley, 2005; Tricco et al., 2016), the comprehensive literature search (2012–2022), use of structured search terms, rigorous dual review process, and use of Cochrane Collaboration outcome taxonomy. Several limitations merit noting. First, despite a systematic and rigorous approach, it is likely that not all articles relating to nursing in genomics were included. For example, not all articles may utilize nursing in the keywords/abstract and thus would not be retrieved in the structured search. Further, it may not be completely evident that authors involved included nurses. We did not include studies that examined nurses as the population being investigated (i.e., Nurses’ Health Study). Another limitation is that we did not conduct an extensive grey literature search so it is possible that some reports were not reviewed. Last, we did not examine risk of bias in the included articles as there was significant variability in the methodologies employed in the included studies.

The scoping review of consumer-oriented outcomes from nursing and/or midwifery involvement in genomics (2012–2022) identified 67 articles with a primary focus on genetic testing and screening. Synthesizing findings revealed key knowledge gaps and unmet patient informational needs around genetic testing and decision support. Moreover, consumers (i.e., patients and families) had high satisfaction with nurse-led interventions. There are opportunities for interprofessional collaboration between nursing and genetic counseling to meet the mounting demand for genomic healthcare and develop more person-centered approaches to genetic counseling and decisional support.