Catherine Y. Read

Implications for Educating the Next Generation of Nurses on Genetics and Genomics in the 21st Century

PURPOSE To provide nurse educators with an updated overview of advances in genetics and genomics in the context of the holistic perspective of nursing. ORGANIZING FRAMEWORK Recent advances in genetic and genomic research, testing, therapies, and resources are presented, and the continuing importance of the family history is discussed. METHODS Genomic nurse experts reviewed recent literature and consumer resources to elucidate updates in technology through the lens of the genetically vulnerable patient and family. FINDINGS Genetic and genomic technologies are becoming routinely used in health care, and nurse educators will be challenged to incorporate these technologies and implications for patients and families into educational programs. CONCLUSIONS New technology and its applications are perennial challenges to nurse educators, but the common focus for nursing, historically and geographically, is health promotion, symptom management, and disease prevention. Education for the next generation of nurses can lay a foundation in genetics and genomics that will enable interpretation and responsible integration of new technologies in a context of individual and family value systems, personal experiences, risk perception, decision consequences, and available resources. CLINICAL RELEVANCE Nurses are ideally situated to inform patients about new options in healthcare, and nurse educators are challenged to prepare their students to interpret and responsibly integrate new genetic-genomic information into practice.

Reproductive decisions of parents of children with metabolic disorders

The Interaction Model of Client Health Behavior (IMCHB) served as a guide for variable selection and instrument development for telephone interviews with 230 parents of children with metabolic disorders. Sociodemographic, psycho‐affective and client–professional interaction variables were examined in relation to three outcomes: (1) receptivity to future prenatal diagnosis (56% were receptive); (2) likelihood of terminating an affected pregnancy (10% would); and (3) whether or not the parent had taken measures to prevent another affected pregnancy (41% had). All three outcomes were significantly correlated with higher scores on the Parent Stress Index, lower scores on the Vineland Adaptive Behavior Scales, fewer persons in the parents social support network, greater worry about the living childs future and greater perceived difficulty meeting the childs extra care needs. A regression model constructed to explain taking measures to prevent a future affected pregnancy illustrated the usefulness of the IMCHB in research that involves multiple interacting variables on health outcomes. Few of the parents (7.4%) reported an interaction with a genetic counsellor, highlighting the need for practitioners from multiple disciplines to be adequately educated in principles of genetics, especially the psychological and affective aspects of counselling.

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.

Newborn screening compared to clinical identification of biochemical genetic disorders

A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their childs needs.

SEMESTER ABROAD OPPORTUNITIES IN BACCALAUREATE NURSING PROGRAMS

An experience of studying abroad enhances undergraduate nursing education by broadening the students perspective about different cultures, heightening awareness of a global society and foreign customs and traditions, stimulating interest in international work and research, fostering personal development, building skill in a foreign language, and serving as a bridge between theory and practice. Despite a large number of published reports about international experiences for nursing students, little is known about the number of baccalaureate programs that offer a semester abroad or the percent of students who participate. A mailed paper-and-pencil survey was completed by 382 administrators of baccalaureate nursing programs listed in the American Association of Colleges of Nursing database. Eighty-nine schools (23.3%) offer a semester study abroad opportunity. Of those, 39 (44%) offer clinical nursing courses taught by nursing faculty. Most (76%) of the 89 schools reported that only 0%-5% of students participated in the semester abroad program. Despite the small number of baccalaureate programs that offer a semester abroad experience and the small percentage of students who participate, respondents listed a large number and variety of advantages and offered strategies that facilitate their programs. Curricular innovations that allow 17%-26% of juniors in the baccalaureate nursing program at Boston College to study abroad for a semester are elucidated.

Using the Impact of Event Scale to Evaluate Psychological Response to Being a Phenylketonuria Gene Carrier

The birth of a child with phenylketonuria (PKU) is almost always a shock to the parents, who are faced with the realities of caring for a child with special needs and the need to cope with the realization that they are obligate carriers of the responsible gene. The Impact of Event Scale (IES) was used to assess the psychological impact of being a PKU gene carrier on 83 parents of children with PKU. IES scores decreased significantly from the time of initial diagnosis of PKU to the current time. The magnitude of the psychological impact did not correlate with the age of the parent, the number of years since the diagnosis of PKU, or the health or development of the child. As more tests become available for detecting the presence of disease-related genes, instruments such as the IES may prove useful in the evaluation of psychological responses to genetic information.

Promoting integration of genetics core competencies into entry-level nursing curricula.

Nurse educators must respond to the growing need to teach genetics content in undergraduate nursing curricula. Recently developed genetics core competencies can be used to guide curriculum assessment and planning. This article describes a 5-year effort to integrate genetics education into a baccalaureate nursing curriculum and provides the results of a curriculum survey based on published genetics core competencies.

Nurse Staffing and Hospital Characteristics Predictive of Time to Diagnostic Evaluation for Patients in the Emergency Department

Introduction: In the 2014 Emergency Department Benchmarking Alliance Summit, for the first time, participants recommended tracking nursing and advanced practice nurse hours. Performance data from the Centers for Medicare and Medicaid Services provides an opportunity to analyze factors associated with delays in emergency care. The purpose of this study was to investigate hospital characteristics associated with time to a diagnostic evaluation in 67 Massachusetts emergency departments from 2013 to 2014. Methods: Covariates significantly correlated with time to diagnostic evaluation, and factors associated with timely care in emergency departments were included in the stepwise linear regression analysis. Differences in nurse staffing and performance measures in trauma and nontrauma emergency departments were examined with analysis of variance and t tests. Results: Two predictors explained 38% of the variance in time a diagnostic evaluation (1): nurse staffing (P < .001) and (2) trauma centers (P < .001). In trauma centers, the time to a diagnostic evaluation significantly increased (P = .042) from 30.2 minutes when a nurse cared for fewer than 11.32 patients in 24 hours to 61.4 minutes when a nurse cared for 14.85 or more patients in 24 hours. Discussion: Efforts to improve patient flow often focus on process interventions such as improved utilization of observation beds or transfers of patients to inpatient units. In this study, time to diagnostic evaluation significantly increased when emergency nurses care for higher numbers of patients. The findings present new evidence identifying the relationship of specific nurse to patient ratios to wait time in emergency departments.

Genetic Association Studies in Nursing Practice and Scholarship

PURPOSE To explore the role of genetic association studies in risk assessment for common complex diseases. ORGANIZING FRAMEWORK An introduction to the types of genetic association studies is followed by a discussion of their potential use in risk assessment for age-related macular degeneration and type 2 diabetes mellitus. The benefits and limitations of this burgeoning technology are explored and related to nursing practice and scholarship. CONCLUSIONS Nurses in practice must be prepared to assist clients with decisions about seeking and interpreting results from genetic association studies and nurse researchers must apply current guidelines for conducting robust studies and applying the results of such studies in clinical practice. CLINICAL RELEVANCE Data collected from genetic association studies will increasingly be used to identify novel prevention and treatment strategies for many complex diseases. An understanding of the principles that underlie this new science is essential for nurses in all areas of clinical practice as they design, test, and implement appropriate intervention and prevention strategies based on genetic association studies.