Workforce survey of PAs' genetic-genomic knowledge, attitudes, and application in practice.

OBJECTIVE: This study surveyed practicing physician associates/assistants (PAs) about their genetics-genomics knowledge, attitudes, and application in practice. METHODS: A 25-question electronic survey was emailed to each constituent organization of the American Academy of Physician Associates (AAPA) with a description of the study and a request to forward to their members. Additionally, a posting was displayed in the bulletin board section of the online AAPA Huddle. RESULTS: Of the 420 PAs who completed the survey, few are knowledgeable (25%) about or confident (13%) in applying a genomic approach to patient care, although most (61%) think genetics-genomics is important to delivering high-quality care. Remarkably, 97% of PAs surveyed are interested in genetics-genomics continuing medical education. CONCLUSIONS: PAs lack knowledge and confidence in integrating genetics-genomics into patient care; however, they have a positive attitude toward genetics-genomics and want to improve their knowledge and confidence through education.

The State of Genetics and Genomics Education in US Physician Assistant Programs.

PURPOSE: This study aimed to assess the current landscape of genetics-genomics education in physician assistant (PA) student training. METHODS: A 25-question electronic survey was emailed to program directors of the 273 accredited PA programs. Questions represented PA program demographics and 4 domains: curricular characteristics and perceived adequacy; content; curricular approaches and instructional methods; and intent, barriers, and perceived needs for an optimal curriculum. RESULTS: A total of 115 PA program representatives (42%) returned the survey. More than two-thirds of responding programs do not require a prerequisite genetics course for matriculation. Most programs (48%) include 1 to 10 contact hours of genetics-genomics content and use various content delivery methods and approaches. Most programs (67%) use PA program faculty to teach genetics-genomics as part of one course or many courses throughout the curriculum (85%) using didactic lectures (97%). The most significant barrier to developing an optimal curriculum is an already overloaded curriculum (71%). Physician assistant educators welcome supportive resources, such as genetic case studies (96%). CONCLUSIONS: The study findings elucidate the current state of genetics-genomics education in PA programs. Every responding program reports that genetics-genomics is integrated into their curriculum; however, no standardization exists between programs. Although medical genetics-genomics has changed and advanced rapidly since a similar survey was conducted 14 years ago, the number of contact hours is unchanged, and genetics-genomics content is less dispersed throughout PA curricula. To create genetic-competent and genomic-competent PAs, education must evolve to stay current with ongoing advancements in genomic science.

A Critical Review of the Prognostic and Predictive Implications of KRAS and STK11 Mutations and Co-Mutations in Metastatic Non-Small Lung Cancer.

The Kirsten rat sarcoma viral oncogene homolog (KRAS) and serine/threonine kinase 11 (STK11) co-mutations are associated with the diverse phenotypic and heterogeneous oncogenic subtypes in non-small cell lung cancer (NSCLC). Due to extensive mixed evidence, there needs to be a review of the recent KRAS and STK11 mutation literature to better understand the potential clinical applications of these genomic biomarkers in the current treatment landscape. This critical review highlights the clinical studies that have elucidated the potential prognostic and predictive implications of KRAS mutations, STK11 mutations, or KRAS/STK11 co-mutations when treating metastatic NSCLC across various types of treatments (e.g., immune checkpoint inhibitors [ICIs]). Overall, KRAS mutations are associated with poor prognoses and have been determined to be a valid but weak prognostic biomarker among patients diagnosed with NSCLC. KRAS mutations in NSCLC have shown mixed results as a predictive clinical biomarker for immune checkpoint inhibitor treatment. Overall, the studies in this review demonstrate that STK11 mutations are prognostic and show mixed results as predictive biomarkers for ICI therapy. However, KRAS/STK11 co-mutations may predict primary resistance to ICI. Prospective KRAS/STK11-biomarker-driven randomized trials are needed to assess the predictive effect of various treatments on the outcomes for patients with metastatic NSCLC, as the majority of the published KRAS analyses are retrospective and hypothesis-generating in nature.

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others. This study investigated the prevalence of sleep disturbances, and the genetic and metabolic features associated with them, in a cohort of 56 individuals with PMS. Sleep data were collected via standardized observer/caregiver questionnaires, while genetic data from array-CGH and sequencing of 9 candidate genes within the 22q13.3 region, and metabolic profiling utilized the Biolog Phenotype Mammalian MicroArray plates. Sleep disturbances were present in 64.3% of individuals with PMS, with the most common problem being waking during the night (39%). Sleep disturbances were more prevalent in individuals with a SHANK3 pathogenic variant (89%) compared to subjects with 22q13.3 deletions of any size (59.6%). Distinct metabolic profiles for individuals with PMS with and without sleep disturbances were also identified. These data are helpful information for recognizing and managing sleep disturbances in individuals with PMS, outlining the main candidate gene for this neurological manifestation, and highlighting potential biomarkers for early identification of at-risk subjects and molecular targets for novel treatment approaches.

Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.

Phelan-McDermid syndrome (PMS), caused by pathogenic variants in the SHANK3 gene or 22q13 deletions, is characterized by intellectual disability, autistic features, developmental delays, and neonatal hypotonia. Insulin-like growth factor 1 (IGF-1) and human growth hormone (hGH) have been shown to reverse neurobehavioral deficits in PMS. We assessed the metabolic profiling of 48 individuals with PMS and 50 controls and determined subpopulations by taking the top and bottom 25% of responders to hGH and IGF-1. A distinct metabolic profile for individuals with PMS showed a reduced ability to metabolize major energy sources and a higher metabolism of alternative energy sources. The analysis of the metabolic response to hGH or IGF-1 highlighted a major overlap between both high and low responders, validating the model and suggesting that the two growth factors share many target pathways. When we investigated the effect of hGH and IGF-1 on the metabolism of glucose, the correlation between the high-responder subgroups showed less similarity, whereas the low-responders were still relatively similar. Classification of individuals with PMS into subgroups based on responses to a compound can allow an investigation into pathogenic mechanisms, the identification of molecular biomarkers, an exploration of in vitro responses to candidate drugs, and eventually the selection of better candidates for clinical trials.

Genetics and Genomics Education for Physician Assistant Students: A Review of the Literature.

INTRODUCTION: The purpose of this study was to critically review the literature and determine what is known about genetics-genomics education for physician assistants (PAs). METHODS: A rapid review method was used to search CINAHL, MEDLINE, PubMed, and Web of Science databases. The review is presented historically to describe the development of genetics-genomics education in PA programs. RESULTS: Of 594 publications retrieved, 11 articles met inclusion criteria. Retained articles include an assessment of PA programs, genetics-genomics competencies, educational efforts developed by PA programs regarding genetics-genomics, and continuing education programs for PAs. DISCUSSION: A paucity of published literature regarding genetics-genomics education for PAs was found. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours that PA students receive, and recommendations for continuing education programs. Most of the available literature is outdated, leaving a need for more current information to inform the education of genetic- and genomic-competent PAs. Recommendations for future research include assessment of PA programs regarding genetics-genomics education; development and validation of an assessment tool to measure genetics-genomics knowledge; and utilization of the RISE2 Genomics standards to plan, implement, evaluate, and report educational interventions. These recommendations are necessary to build an evidence base regarding genomics education for PA students and practicing PAs.

Linguistic Validation of Genomic Nursing Concept Inventory to Finnish Applying Mandysova's Decision Tree Algorithm.

Background and Purpose: Currently, there is no available Finnish version of the Genomic Nursing Concept Inventory tool (GNCI). This study tested the validity, reliability, and clinical usability of a Finnish translation. Methods: A decision tree algorithm was used to guide the translation, as per International Society for Pharmacoeconomics and Outcomes Research guidelines. Item-Content Validity Index (I-CVI), modified kappa (k*) statistics, and Cronbach's alpha were calculated. Results: The I-CVI and k* values were "good" to "excellent" (I-CVI = 0.63-1.00, k* = 0.52-1.00), and Cronbach's alpha value was "good" (α = 0.816; 95% confidence interval: 0.567-0.956). Conclusion: The Mandysova's decision tree algorithm provided clear and rigorous direction for the translation and validity of the Finnish GNCI.

Incidental Findings in Study Participants: What Is the Researcher's Obligation?

BACKGROUND: As technology advances and genomic testing becomes commonplace, incidental findings, or the discovery of unrelated results, have increased. The American College of Genetics and Genomics (ACMG) established recommendations for the return of pathologic variants in 78 genes in the clinical setting based on medically actionable conditions from genes linked with preventable or treatable diseases. However, the lack of policy in the research setting poses a serious ethical dilemma for researchers, potentially threatening the participant's trust and willingness to contribute to a process with more significant risk than benefit. PURPOSE: Our goal was to determine the preferred ethical approach to handling incidental research findings and suggest a new standard for investigators and participants. METHODS: By employing Wueste's IAJD Framework of ethical evaluation, the current research policy, as well as a proposed policy, were analyzed, and then a policy analysis was employed to ascertain feasibility. RESULTS AND DISCUSSION: The current policy of leaving the decision of returning incidental findings up to the researcher's discretion is an ethical failure from the consequential, deontological, and intellectual freedom perspectives. However, the proposed policy of implementing the ACMG guidance for researchers to satisfy ethical demands reinforces its moral fortitude. In a period of increasing public awareness, the community, which is the prospective research pool, has increased demands for autonomy and less paternalistic behavior from medicine and science. This paper synthesizes recommendations by numerous organizations to establish a mutually beneficial policy that will ensure the U.S. Department of Health and Human Services (HHS) goal, stated in the 2014 Joint Rule, of making participants "partners" in research a reality.

Randomized controlled trial on the effectiveness of web-based Genomics Nursing Education Intervention for undergraduate nursing students: a study protocol.

AIM: To describe a randomized controlled trial protocol that will evaluate the effectiveness of two web-based genomic nursing education interventions. BACKGROUND: Preparing future nurses to be competent in genetic and genomic concepts is fundamental to ensure appropriate clinical application. However, genetics-genomics concepts are still new in the field of nursing. Little is known about what type and kind of web-based nursing education is effective in improving the knowledge of nursing students. To address these knowledge gaps, a web-based 'Genomic Nursing Education Intervention' will be developed and compared with an existing online education programme. DESIGN: A randomized controlled trial of two groups with pre-test and repeated posttesting. METHODS: The Genomic Nursing Concept Inventory, a validated tool, will be used to assess the genetics-genomics knowledge of nursing students. Participants will be randomly allocated to either a control or an intervention group. The control group will receive the standard web-based nursing education, while the intervention group will receive a newly developed web-based education intervention. Outcome measures include the students' knowledge level of nursing genetics-genomics concepts. Participants will be retested at 3 and 6 months. CONCLUSION: Current evidence shows that ensuring nurses have adequate education in genetic-genomic concepts is challenging. This study will demonstrate which of two web-based nursing education methods is more effective in teaching genetic-genomic concepts. This research project will better prepare the nursing profession in their careers for the emerging advance technologies in genetics-genomics and personalized health care. IMPACT: Current evidence shows major challenges in ensuring that nurses have adequate education in genetics-genomics concepts. Less is known about what approaches to web-based education are effective to improve the knowledge gaps of nursing students in genetics-genomics concepts. This study will determine which type of web-based nursing education is effective in improving the genetics-genomics knowledge of nursing students. This research project will help better prepare nurses in dealing with advances in genetics-genomics in their careers. TRIAL REGISTRATION:  This study is registered in ClinicalTrials.gov (ID number NCT03963687) https://clinicaltrials.gov/show/NCT03963687.

Item and Structure Evaluation of the Genomic Nursing Concept Inventory.

BACKGROUND AND PURPOSE: Genomic nursing education requires a genomic literacy assessment supported by evidence of reliability and validity. This study applied psychometric analyses to provide support for the Genomic Nursing Concept Inventory (GNCI). METHODS: Over nine semesters, baccalaureate nursing students (N = 1,065) completed the GNCI on the first and last days of genomics instruction. Psychometric analyses assessed scale and item performance pre- and post-instruction. RESULTS: Exploratory factor analysis supported scale unidimensionality and identified items with low pattern coefficients. Analyses supported test-retest and internal consistency reliability and criterion validity. Scale difficulty decreased by 28% from pre- to post-instruction. Underperforming items were identified for further inventory refinement. CONCLUSIONS: Findings support use of the GNCI to measure learning needs pre-instruction and learning gains post-instruction. Data also inform planned inventory revision.

Misconceptions About Genomics Among Nursing Faculty and Students.

A comparison of 2 research studies revealed that nursing faculty and students share limited understanding and specific misconceptions about foundational genomic concepts. Mean scores on the Genomic Nursing Concept Inventory were 48% for faculty and 42% for students. Identifying misconceptions is important when designing educational strategies for students who will inevitably care for patients with genomic concerns. Common clinical scenarios requiring accurate interpretation of genomic terminology, gene function and expression, and genetic counseling principles are presented.

Using Biology Education Research and Qualitative Inquiry to Inform Genomic Nursing Education.

Decades of research in biology education show that learning genetics is difficult and reveals specific sources of learning difficulty. Little is known about how nursing students learn in this domain, although they likely encounter similar difficulties as nonnursing students. Using qualitative approaches, this study investigated challenges to learning genetics among nursing students. Findings indicate that nursing students face learning difficulties already identified among biology students, suggesting that nurse educators might benefit from biology education research.

Assessment of Genomic Literacy Among Baccalaureate Nursing Students in the United States: A Feasibility Study.

The implementation of genomic nursing education should be based on evidence, comparing what students know about genetics and genomics with what they need to know. In this multisite feasibility study, a standardized inventory of genetic-genomic knowledge was administered to students in 14 baccalaureate nursing programs. Data contribute to instrument validation, provide a snapshot of genetic-genomic knowledge among US nursing students, and inform planning for a large, multisite study.

Web-Based Assessment of Genomic Knowledge Among Practicing Nurses: A Validation Study.

BACKGROUND: Understanding foundational concepts of genetics and genomics is essential to contemporary nursing practice. The Genomic Nursing Concept Inventory (GNCI) is a research-based measure designed to assess nurses' knowledge of key genetic concepts. Developed and tested among nursing students, the GNCI needs to be validated with practicing nurses. A valid assessment of genetic-genomic knowledge among nurses is vital to support competency-based continuing education. METHOD: This study explored the feasibility of employing a Web-based version of the GNCI and tested its psychometric performance among a purposive sample of practicing nurses. RESULTS: The psychometric features of the GNCI are described in terms of scale, subscale, and concept difficulty and internal consistency reliability; these values were in an acceptable range. CONCLUSION: This study represents a successful early step in testing the feasibility of using a Web-based version of the GNCI and validating the GNCI to measure genetic-genomic knowledge among practicing nurses.

Stress and coping of parents caring for a child with mitochondrial disease.

UNLABELLED: Mitochondrial disease comprises a group of rare, genetic, life-limiting, neurodegenerative disorders known to affect children. Little is known about disease-related challenges, parental stress, and coping when caring for a child with a mitochondrial disease. PURPOSE: This study explored disease-related characteristics and parental stressors and coping behaviors related to caring for a child with mitochondrial disease. METHODS: Internet surveys were posted on known mitochondrial disease websites for parent completion. Surveys included demographic items and two questionnaires: Coping Inventory for Parents (CHIP) and Pediatric Inventory for Parents (PIP). Descriptive data were collected and correlations used to determine relationships between parenting stress, coping, and demographic variables. RESULTS: The majority of participants (n=231) were mothers (95%) of children with mitochondrial disease around the age of 10 years (M=9.85). On average, children had 6 organs involved (M=6.02) and saw 7 different specialists (M=7.49); 61% were hospitalized in the past year. Significant correlations (p<0.05) were found between parenting stress and parent age, parent income, parent education, child age, child age at diagnosis, presence of developmental delays, number of hospitalizations, number of medical visits, number of organs involved, and number of specialists seen. Significant correlations were also found between parenting stress and coping behaviors such as family integration, social support and understanding health care. CONCLUSIONS: The ability to identify disease-related challenges, stressors, and coping strategies in parents of children with mitochondrial disease is novel and can assist nurses to provide disease-sensitive, family-focused care and improve child health outcomes.

Application of Exploratory Factor Analysis and Item Response Theory to Validate the Genomic Nursing Concept Inventory.

BACKGROUND: Genomic nursing education requires an assessment to capture understanding of genetic-genomic concepts that are critical to competent nursing practice. The Genomic Nursing Concept Inventory (GNCI) was designed for that purpose. Advanced psychometric analyses were applied to GNCI responses to assess dimensionality and item and scale functioning and to inform inventory refinement. METHOD: The 31-item GNCI was administered to baccalaureate nursing students (N = 758), and exploratory factor analysis (EFA) was applied to explore scale dimensionality and construct validity. Item response theory was applied to explore individual item and overall scale functioning. RESULTS: Unidimensionality of the GNCI was supported. Internal consistency reliability was sufficient for the intended use of the scale. Although a few items were identified for review and potential revision, evidence supports GNCI score accuracy across a wide range of genomic knowledge ability. CONCLUSION: Validity evidence provided support for the use of GNCI scores for the intended purposes.

Faculty Performance on the Genomic Nursing Concept Inventory.

PURPOSE: To use the newly developed Genomic Nursing Concept Inventory (GNCI) to evaluate faculty understanding of foundational genomic concepts, explore relative areas of strength and weakness, and compare the results with those of a student sample. DESIGN: An anonymous online survey instrument consisting of demographic or background items and the 31 multiple-choice questions that make up the GNCI was completed by 495 nursing faculty from across the United States in the fall of 2014. METHODS: Total GNCI score and scores on four subcategories (genome basics, mutations, inheritance, genomic health) were calculated. Relationships between demographic or background variables and total GNCI score were explored. FINDINGS: The mean score on the GNCI was 14.93 (SD = 5.31), or 48% correct; topical category scores were highest on the inheritance and genomic health items (59% and 58% correct, respectively), moderate on the mutations items (54% correct), and lowest on the genome basics items (33% correct). These results are strikingly similar to those of a recent study of nursing students. Factors associated with a higher total score on the GNCI included higher self-rated proficiency with genetic/genomic content, having a doctoral degree, having taken a genetics course for academic credit or continuing education, and having taught either a stand-alone genetic/genomic course or lecture content as part of nursing or related course. Self-rated proficiency with genetic/genomic content was fair or poor (70%), with only 7% rating their proficiency as very good or excellent. CONCLUSIONS: Faculty knowledge of foundational genomic concepts is similar to that of the students they teach and weakest in the areas related to basic science information. CLINICAL RELEVANCE: Genomics is increasingly relevant in all areas of clinical nursing practice, and the faculty charged with educating the next generation of nurses must understand foundational concepts. Faculty need to be proactive in seeking out relevant educational programs that include basic genetic/genomic concepts.

The Parent Experience of Caring for a Child with Mitochondrial Disease.

UNLABELLED: Mitochondrial disease is a spectrum of progressive genetic disorders resulting from dysfunctions of cellular metabolism in the mitochondria that greatly compromise the lives of affected individuals, who are often children. PURPOSE: This study described the parent experiences unique to caring for a child with mitochondrial disease. METHODS: Internet surveys were made available to parents of children with a known mitochondrial disease. Surveys included demographic items and two questionnaires: Parent Experience of Child Illness (PECI) and Pediatric Inventory for Parents (PIP). Descriptive data were collected and correlations calculated to determine relationships between the parent experience and stress. RESULTS: The majority of participants (n=231) were mothers (95%) of children with mitochondrial disease around the age of 10 years (M=9.85). Elevated scores were found in parent adjustment illness-related concerns regarding Guilt and Worry (M=2.30, SD=.650), Sorrow and Anger (M=2.09, SD=.730), Long-term Uncertainty (M=2.56, SD=.690), and Emotional Resources (M=2.36, SD=.615). Scores indicated elevated feelings of stress in terms of both difficulty and frequency. Significant correlations (p<0.01) were found between parent illness-related concerns and parenting stress. CONCLUSIONS: The results of this study suggest that parents of a child with mitochondrial disease feel a burden of responsibility that exceeds the typical caregiver role, see their child as fragile, and have concerns about their child's future. Identification of these concerns can assist nurses to better meet the needs of these parents and families.

Development and psychometric evaluation of the genomic nursing concept inventory.

Translation of genome science to improve health outcomes requires nurses to develop genomic competency and literacy, and a robust measure of genomic literacy is needed to advance evidence-based nursing education. This study aimed to develop and evaluate the Genomic Nursing Concept Inventory (GNCI), which is a scale to measure understanding of the genetic/genomic concepts most critical to nursing practice. Applying a multistep process, key concepts were drawn from essential nursing genetic/genomic competencies and validated by expert opinion. Surveys and cognitive interviews of baccalaureate nursing (BSN) students informed item development. A 52-item draft inventory was administered to 238 BSN students. Item analysis informed inventory reduction, and the resulting 31-item inventory was tested with 705 BSN students. Scale difficulty was 47%, item difficulty 13% to 84%, and Cronbach's alpha 0.77. As scale refinement proceeds, the GNCI provides a useful measure of genomic literacy to inform curriculum design and evaluate outcomes in genomic nursing education.

The integration of simulation into a clinical foundations of nursing course: student and faculty perspectives.

Taking the initial steps to integrate simulation into a nursing program can appear overwhelming to faculty and supportive personnel. This paper will describe an approach taken by one undergraduate nursing program in the United States that focused on integrating simulation into a clinical foundations nursing course. Current research was used to guide the design and implementation of simulation. Several key points from the literature were applied to the process; linking scenarios with didactic information, the importance of debriefing, and the need for repetitive practice. Using these concepts, simulation scenarios were constructed following the Nursing Education Simulation Framework. Three scenarios were subsequently implemented during the course, with data from students and faculty collected after each scenario. The results indicate the students perceived the design and implementation to be very agreeable, while faculty reactions to simulation remain mixed. However, there was universal support concerning the use of repetitive practice of foundational skills to enhance learning outcomes.