Integrating genomics into Canadian oncology nursing policy: Insights from a comparative policy analysis.

AIM: To learn from two jurisdictions with mature genomics-informed nursing policy infrastructure-the United States (US) and the United Kingdom (UK)-to inform policy development for genomics-informed oncology nursing practice and education in Canada. DESIGN: Comparative document and policy analysis drawing on the 3i + E framework. METHODS: We drew on the principles of a rapid review and identified academic literature, grey literature and nursing policy documents through a systematic search of two databases, a website search of national genomics nursing and oncology nursing organizations in the US and UK, and recommendations from subject matter experts on an international advisory committee. A total of 94 documents informed our analysis. RESULTS: We found several types of policy documents guiding genomics-informed nursing practice and education in the US and UK. These included position statements, policy advocacy briefs, competencies, scope and standards of practice and education and curriculum frameworks. Examples of drivers that influenced policy development included nurses' values in aligning with evidence and meeting public expectations, strong nurse leaders, policy networks and shifting healthcare and policy landscapes. CONCLUSION: Our analysis of nursing policy infrastructure in the US and UK provides a framework to guide policy recommendations to accelerate the integration of genomics into Canadian oncology nursing practice and education. IMPLICATIONS FOR THE PROFESSION: Findings can assist Canadian oncology nurses in developing nursing policy infrastructure that supports full participation in safe and equitable genomics-informed oncology nursing practice and education within an interprofessional context. IMPACT: This study informs Canadian policy development for genomics-informed oncology nursing education and practice. The experiences of other countries demonstrate that change is incremental, and investment from strong advocates and collaborators can accelerate the integration of genomics into nursing. Though this research focuses on oncology nursing, it may also inform other nursing practice contexts influenced by genomics.

The experiences of patients, caregivers and donors on transplant journeys in Canada: A convergent parallel mixed methods study.

INTRODUCTION: The organ donation and transplantation (ODT) system in Canada is complex and can be challenging for individuals to navigate. We thus aimed to illuminate the experiences of individuals on transplant journeys using a patient-oriented convergent parallel mixed-methods approach. METHODS: We captured data on adult patients, living donors, and caregivers on transplant journeys across Canada through an online survey (n = 935) and focus groups (n = 21). The survey was comprised of 48 questions about the individuals' experiences with the living donation and transplantation system, which were analyzed descriptively. Qualitative data were analyzed using an inductive conventional content analysis approach. RESULTS: Most participants were female (70.1%), English speaking (92.6%) and White (87.8%). Participants' experiences were represented across six key themes: holistic person-centred care, accountable care, collective impact, navigating uncertainty, connection and advocacy. Quantitative and qualitative data were integrated to identify five opportunities to improve the organ donation and transplantation system in Canada: enhancing mental health support, establishing formal peer support programmes, improving continuity of care, improving knowledge acquisition, and expanding resources and support. CONCLUSION: It is imperative that the ODT system commits to asking, listening, and learning from individuals on transplant journeys and to provide them opportunities to help improve it.

Impact of the COVID-19 pandemic on Canadian transplant journeys: a mixed methods study.

BACKGROUND: Navigating the organ donation and transplantation system in Canada can be challenging for individuals on transplant journeys. Although it is likely that the COVID-19 pandemic has further contributed to these challenges, the experiences of individuals during the pandemic in Canada have not been well elicited. OBJECTIVE: To illuminate how the COVID-19 pandemic has impacted individuals on transplant journeys in Canada. DESIGN: Convergent parallel mixed-methods study. SETTING: Canada. PARTICIPANTS: Adult patients, caregivers, and donors on transplant journeys across Canada. DATA COLLECTION: Eight focus groups and an online survey between May and November 2021. Focus group transcripts were analysed using an inductive conventional content analysis approach. Survey data were analysed using descriptive statistics. The study was guided by individuals with lived experience of organ donation and transplantation. RESULTS: A total of 830 participants completed three COVID-19 related survey questions, with 21 participating in the focus groups. Survey results: over 50% of patients and caregivers reported that the pandemic impacted their access to their healthcare team, their mental health (60% and 65%, respectively) and their comfort going out in public (80% and 75%, respectively). Although many donors reported several factors that impacted their transplant journey, the impact appeared to be greater for patients and caregivers. Qualitative results: three themes emerged from the qualitative data that contextualise participant's experiences: compounding isolation, disruption amid uncertainty and unforeseen benefits. CONCLUSION: The COVID-19 pandemic has exacerbated many of the challenges that individuals on transplant journeys experience. It will be critical for transplant programmes to consider these factors in future care provision.

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022).

In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022). The included articles were categorized according to the Cochrane Collaboration outcome domains/sub-domains, and thematic analysis was employed to identify key topical areas to summarize the state of the science. Of 8532 retrieved articles, we identified 232 eligible articles. The articles primarily reported descriptive studies from the United States and other high-income countries (191/232, 82%). More than half (126/232, 54.3%) aligned with the "healthcare provider oriented outcomes" outcome domain. Three times as many articles related to the "knowledge and understanding" sub-domain compared to the "consultation process" subdomain (96 vs. 30). Five key areas of focus were identified, including "nursing practice" (50/126, 40%), "genetic counseling and screening" (29/126, 23%), "specialist nursing" (21/126, 17%), "nurse preparatory education" (17/126, 13%), and "pharmacogenomics" (9/126, 7%). Only 42/126 (33%) articles reported interventional studies. To further integrate genomics into nursing, study findings indicate there is a need to move beyond descriptive work on knowledge and understanding to focus on interventional studies and implementation of genomics into nursing practice.

The Canadian Landscape of Genetics and Genomics in Nursing: A Policy Document Analysis.

BACKGROUND: Genetics and genomics (GG) are transforming approaches to healthcare in Canada and around the globe. Canadian nurses must be prepared to integrate GG in their practice, but modest research in this area suggests that Canadian nurses have limited GG competency. Countries that have integrated GG across nursing provided guidance to nurses about the practice implications of GG through regional nursing policy documents. These documents propelled action to integrate GG across nursing. Little is known about the GG content in the nursing policy document infrastructure in Canada. PURPOSE: This study aimed to examine the guidance for GG-informed nursing practice as provided by Canadian nursing organizations in official professional documents. METHODS: Qualitative document analysis was used. A hybrid inductive/deductive analysis approach was used to analyze findings within the diffusion of innovation theory framework. RESULTS: There is an overall lack of depth and breadth of Canadian nursing documents that include content related to GG. Of the (n = 37) documents analyzed, four themes were generated including (a) GG guidance in nursing education; (b) regulators' requirements for foundational GG knowledge, (c) Canadian Nurses Association (CNA) as an early catalyst to GG integration; and (d) early adopters in speciality practice. CONCLUSION: There are opportunities to enhance the guidance available to Canadian nurses for the application of GG, through documents of nursing professional associations, nursing education accreditation organizations, and regulatory bodies. Findings suggest oncology and perinatal nurses are the early adopters which is an important consideration in future strategies to implement GG into Canadian nursing.

Evaluating fundamental care knowledge to inform educational leadership.

AIM: To explore undergraduate nursing students' understanding of fundamental care and identify educational leadership opportunities to deepen students' understanding of fundamental care concepts. DESIGN: Sequential-explanatory mixed methods study. METHODS: We conducted a cross sectional survey (n = 202) and focus groups (n = 24) to explore undergraduate nursing students' ability to identify fundamental care needs. All data were collected between November 2020 and April 2021. Survey data were analysed using descriptive and inferential statistics and focus group data were thematically analysed. RESULTS: Year One students scored significantly lower in their ability to identify fundamental care needs compared with students in other years, even after controlling for route, gender and age. Post-degree students scored significantly higher than direct entry or transfer students. Students ≤19 years of age had significantly lower scores compared with students ≥25 years of age. Our focus group findings highlighted that students were often unable to define fundamental care, but they identified learning about various components of fundamental care in a variety of ways. While students understood that fundamental care was required in all settings, they were challenged in providing this care in acute and virtual settings. Students shared several suggestions to support fundamental care skills development across the curriculum. CONCLUSIONS: There is a need for a clear definition and description of the fundamentals of care that is used consistently by faculty, students and curriculum documents. It is important to encourage and support educators to share real-world nursing stories, offer students time to share their personal experiences, develop creative learning opportunities and foster student reflection to deepen students' understanding of the fundamentals of care. IMPACT: Educators need support to meaningfully incorporate fundamentals of care learning opportunities across multiple care settings. Educational leaders can use these findings to develop or adapt their curricula to support fundamental care skill development.

Leading Canadian Nurses into the Genomic Era of Healthcare.

Genomics is having a profound impact on every aspect of healthcare. To support nurses to develop genomic literacy and integrate genomics into care, an engagement framework was created. The framework uses principles of nursing intraprofessional collaboration, the knowledge-to-action cycle and the diffusion of innovations theory. This framework was used to identify six key priorities for action and leadership strategies to accelerate and sustain the nurses' engagement with genomics. With leadership and genomic literacy, nurses can fully participate in the creation and implementation of new care pathways, deliver education, advance research linked to genomics and improve patient experience and health outcomes.

Nursing student and faculty attitudes about a potential genomics-informed undergraduate curriculum.

OBJECTIVES: To explore attitudes about adding genomic content to an undergraduate nursing curriculum. Genomic knowledge is essential to nursing education, but challenges exist for curriculum innovation. Few countries have guiding documents from national nursing organizations on genomic competencies for practice or education. Information on attitudes about genomics may provide guidance for curriculum development. METHODS: Nineteen undergraduate nursing students and two faculty from a school of nursing with two sites in western Canada participated. Five focus groups and four interviews were conducted using a semi-structured focus group guide. Data were analysed using thematic analysis. Coding was inductive. RESULTS: Characteristics of participants, eight key themes, and four future focal areas were identified to guide future research and curriculum development. CONCLUSIONS: Global development of genomics-informed curricula will require a focus on increasing knowledge, defining scope and role, increasing visibility of role models, and preparing to implement precision health.

Associations Among Parental Caregiving Quality, Cannabinoid Receptor 1 Expression-Based Polygenic Scores, and Infant-Parent Attachment: Evidence for Differential Genetic Susceptibility?

Attachment is a biological evolutionary system contributing to infant survival. When primary caregivers/parents are sensitive and responsive to their infants' needs, infants develop a sense of security. Secure infant attachment has been linked to healthy brain and organ-system development. Belsky and colleagues proposed the term differential susceptibility to describe context-dependent associations between genetic variations and behavioral outcomes as a function of parenting environments. Variations in the Cannabinoid Receptor Gene 1 (CNR1) are associated with memory, mood, and reward and connote differential susceptibility to more and less optimal parental caregiving quality in predicting children's behavioral problems. AIM: To determine if parental caregiving quality interacts with children's expression-based polygenic risk score (ePRS) for the CNR1 gene networks in the prefrontal cortex, striatum, and hippocampus in predicting the probability of attachment security and disorganized attachment. DESIGN: Prospective correlational methods examined maternal-infant pairs (n = 142) from which infants provided DNA samples at 3 months. Parental caregiving quality was assessed via the Child Adult Relationship Experiment (CARE)-index at 6 months, and attachment security via the Strange Situation Procedure at a mean age of 22 months. The CNR1 ePRSs include genes co-expressed with the CNR1 genes in the prefrontal cortex, striatum, or hippocampus, and were calculated using the effect size of the association between the individual single nucleotide polymorphisms from those genes and region-specific gene expression (GTEx). Logistic regression was employed (alpha < 0.05, two-tailed) to examine the main and interaction effects between parental caregiving quality and ePRSs in predicting attachment patterns. Interpretation of results was aided by analyses that distinguished between differential susceptibility and diathesis-stress. RESULTS: Significant interactions were observed between (1) maternal sensitivity and ePRS in the striatum in predicting attachment security, (2) maternal unresponsiveness with the ePRS in the hippocampus in predicting disorganization, and (3) maternal controlling with the ePRS in the hippocampus in predicting disorganization. CONCLUSION: These findings offer support for genetic differential susceptibility to the quality of maternal sensitivity in the context of the ePRS in the striatum. However, the significant interactions between hippocampal ePRS and maternal unresponsiveness and controlling in predicting the probability of disorganization were more suggestive of the diathesis-stress model.

Assessing knowledge of genomic concepts among Canadian nursing students and faculty.

Objectives Contemporary nurses require genomic literacy to engage in genomics-informed health care. Little is known about the genomic literacy of undergraduate nursing students and faculty in many countries. Concept inventories can be used to assess levels of knowledge and inform curriculum development. Methods The 31-item Genomic Nursing Concept Inventory (GNCI) was administered to undergraduate nursing students (n=207) and faculty (n=13) in a school of nursing with two sites in western Canada. Results Scores on the GNCI were low and comparable to those of US students and faculty. Six student characteristics were associated with total score on the GNCI. Conclusions Both students and faculty need to increase their knowledge of genomics. Mandates from national nursing organizations and international collaboration are needed to develop and implement foundational genomics content for undergraduate curricula to enable graduates to engage in genomics-informed health care.

Precision Health and Nursing: Seeing the Familiar in the Foreign.

Precision health is the integration of personal genomic data with biological, environmental, behavioral, and other information relevant to the care of a patient. Genetics and genomics are essential components of precision health. Genetics is the study of the effects of individual genes, and genomics is the study of all the components of the genome and interactions between genes, environmental factors, and other psychosocial and cultural factors. Knowledge about the role of genetics and genomics on health outcomes has increased substantially since the completion of the human genome project in 2003. Insights about genetics and genomics obtained from bench science are now having positive clinical implications on patient health outcomes. Nurses have the potential to make distinct contributions to precision health due to their unique role in the health care system. In this article, we discuss gaps in the development of precision health in nursing and how nursing can expand the definition of precision health to actualize its potential. Precision health plays a role in nursing practice. Understanding this connection positions nurses to incorporate genetic and genomic knowledge into their nursing practice.

Relationship Between Psychosocial Distress in Pregnancy and Two Genes Associated With Human Social Interaction: A Pilot Study.

BACKGROUND: Prenatal depression, anxiety, and stress (prenatal psychosocial distress) are common, and several environmental risk factors have been implicated in their development. Variation in genes, specifically single nucleotide polymorphisms (SNPs), may explain why some women develop maternal mental health concerns while others do not. PURPOSE: The purpose of this pilot study was to determine the feasibility of completing SNP analyses using whole blood collected prenatally between 2008 and 2011. We examined the association between SNPs in two genes (FKBP5 and OXTR) among women with low and high prenatal psychosocial distress. METHODS: A subset (N = 50, 25 high and 25 low prenatal psychosocial distress) of participants was selected from the All Our Families pregnancy cohort. DNA was extracted from maternal blood and used for selected SNP analysis. Participants' scores on the Edinburgh Prenatal Depression Scale, Spielberger State Anxiety Inventory, and Perceived Stress Scale were used along with demographic variables. RESULTS: Genotype distribution was not significantly different between the low and high prenatal psychosocial distress groups for either the FKBP5 or the OXTR SNP (p = .699 and p = .125). After controlling for maternal age and income, women with the GG genotype at the OXTR SNP (rs237885) were statistically less likely to be in the high prenatal psychosocial distress group (p = .037). CONCLUSION: OXTR SNP rs237885, maternal age, and lower income were associated with prenatal psychosocial distress. This pilot study demonstrated the feasibility of continuing to a larger study that incorporates additional environmental and genetic information.

Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice.

BACKGROUND: Human nonsyndromic cleft lip and palate, CL(P), is genetically complex, with one contributing gene on chromosome 17q. A potentially homologous gene, clf1 on distal chromosome 11, is part of the digenic cause of the 10-30% CL(P) in the A/WySn mouse strain. Here we report our progress toward identifying the clf1 mutation. METHODS: Transcription from all of the known and predicted genes in the 1.5-Mb candidate region was examined in A/WySn and control (AXB-4/Pgn) ED10-11 embryo heads. The marker haplotype for 28 inbred strains across the clf1 region was obtained. The entire transcripts of Wnt9b and Wnt3 in A/WySn were sequenced. Using long PCR, the genomic region from Wnt3 throughWnt9b was screened in A/WySn for an inserted retrotransposon. RESULTS: Gosr2, Wnt9b, Wnt3, Nsf, Arf2, Crhr1, Mapt, Cdc27, Myl4, Itgb3, chr11_20.152, chr11_20.154, chr11_20.155, and chr11_20.156 are expressed in ED10-11 heads. None is absent or detectably reduced in A/WySn. The ancestral pre-clf1 mutation haplotype was found in CBA/J mice. By a test-cross, CBA/J was confirmed to lack the clf1 mutation. Three single-nucleotide variants in A/WySn (vs. C57BL/6J) were found in each of the 3' untranslated regions (3'UTRs) of Wnt3 and of Wnt9b, respectively; their presence in CBA/J shows that none are the clf1 mutation. An inserted intracisternal A particle (IAP) retrotransposon located 6.6 kb from the 3' end of Wnt9b was found in A/WySn and in all clf1 strains tested. This IAP is absent in C57BL/6J and CBA/J. CONCLUSIONS: The clf1 mutation is a genomic alteration present in A/WySn and absent in the ancestral chromosomal segment in CBA/J. The IAP retrotransposon insertion near Wnt9b in A/WySn fits this criterion; we predict that interference with Wnt9b function by this IAP is the clf1 mutation.

A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci.

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate, CL(P), is a common human birth defect with a complex unknown genetic cause. The mouse model is the "A/-" strains. Our previous studies mapped two loci: clf1 on Chr11 and clf2 on Chr13--with a strong genetic maternal effect on the level of risk. Here we test the hypothesis that CL(P) is digenic and identify candidate genes for clf1 and clf2. METHODS: We observed E14 CL(P) frequencies in backcross (BC1) embryos from a new cross of A/WySn to AXB-4/Pgn and from test crosses of three new "congenic RI" lines. Using new polymorphic markers from genes and our mapping panels of segregants and RI strains, we identified the candidate genes for clf1 and clf2. We sequenced the coding region of Ptch in A/WySn cDNA. RESULTS: Seventy new BC1 CL(P) segregants (4%) were obtained, as predicted. All three new congenic RI lines homozygous for both clf1 and clf2 had A/WySn-level CL(P) frequencies (10-30%) in test crosses. The clf1 region contains 10 known genes (Arf2, Cdc27, Crhr1, Gosr2, Itgb3, Mapt, Myl4, Nsf, Wnt3, and Wnt9b). The clf2 region contains 17 known genes with human orthologs. Both regions contain additional potential genes. No causal mutation in Ptch coding sequence was found. CONCLUSIONS: In A-strain mice, nonsyndromic CL(P) is digenic, suggesting that nonsyndromic human CL(P) may also be digenic. The orthologous human genes are on 17q (clf1) and 9q, 8q and 5p (clf2), and good candidate genes are WNT3 or WNT9B (17q), and PTCH (9q) or MTRR (5p).