Genetics and Genomics Education Among Physician Assistants

This dissertation comprises five chapters to describe genetics and genomics education among physician assistant/associate (PA) students and practicing PAs. Chapter I introduces the gap in supply and demand of genetic services, the need for non-genetics healthcare providers to fill the gap, and the PA profession as a solution. Chapter II is a rapid literature review that summarizes the available literature regarding genetics and genomics education for PAs. A paucity of literature exists to describe the current state of PA genetics-genomics education. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours PA students receive, and recommendations for continuing education programs. Most of the available literature is outdated, however, leaving a need for more current information to inform the education of genetic- and genomic-competent PAs. Chapter III describes a PA program survey that assesses the current landscape of genetics and genomics education in PA student training. Findings showed that each responding program reported integrating some form of genetics and genomics into their curriculum; however, no standardization existed between programs. The number of contact hours was unchanged, and content was less dispersed throughout PA curricula than reported in a similar 2007 survey. Although the field of medical genetics-genomics has advanced significantly since the previous survey conducted 14 years ago, the landscape of genetics-genomics education in PA student training has not. Chapter IV describes a survey of practicing PAs to determine their genetics and genomics knowledge, attitudes, and application in practice. Findings indicated that PAs do not feel adequately trained for genomic healthcare. PAs lack knowledge and confidence in integrating genetics and genomics into the care of their patients; however, PAs have a positive attitude towards genetics and genomics and want to improve their knowledge and confidence through educational interventions. Chapter V synthesizes the dissertation findings from Chapters II-IV. Limitations, recommendations, and future research opportunities are described. The literature review, PA program survey, and practicing PA survey revealed that PA students and practicing PAs are not adequately trained for post-genomic healthcare. Through adequate training, however, PAs can become genomic-competent providers and improve health outcomes

GENETICS AND GENOMICS IN NURSING PRACTICE: ASSESSING BARRIERS, FACILITATORS, AND TAILORING IMPLEMENTATION STRATEGIES

The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics were published in 2006. These guidelines define the minimal competency in genetics expected of all nurses regardless of role, specialty, or level of education. However, research indicates that nurses lack knowledge and confidence in their role in genetics/genomics. This quality improvement project aimed to assess barriers and facilitators of genetics/genomics integration into nursing. This study followed a cross-sectional design emphasizing a representative subset of the nursing practicing community at the Veterans Healthcare System of the Ozarks. Participants were invited to complete the Genetics and Genomics in Nursing Practice Survey (GGNPS). This approach was chosen to gain insight into participants’ attitudes, competence, receptivity, adoption, confidence, and social systems and their impact on genetics/genomics in nursing practice

Talking Glossary of Genomics Terminology: A Genomics Education Module for American Indian Communities

This paper describes the development of an audio visual genomics glossary that was designed as an education tool for American Indian communities. This “Talking Glossary of Genomics Terminology” is a multimedia DVD that was modeled on the “Talking Glossary of Genetics,” which was developed by the National Human Genome Research Institute (NHGRI). The NHGRI Glossary was modified and expanded with content designed to increase awareness among American Indians about cancer, genomics, and personalized medicine. Partners on the project include the Inter Tribal Council of Arizona, Inc., Phoenix Indian Medical Center, Arizona Cancer Center at the University of Arizona, the Translational Genomics Research Institute, as well as Arizona State University and University of Arizona graduate students

Autism genetics: searching for specificity and convergence.

Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these disorders

The genetics and genomics of Trypanosoma cruzi

Trypanosoma cruzi is a kinetoplastid parasite that causes Chagas disease. Trypanosomes are unusual organisms in many aspects of its genetics and molecular and cellular biology and considered a paradigm of the exception of the rule in the eukaryotic kingdom. The complete genome sequence of T. cruzi was published in 2005, thus, providing a major tool to the understanding of several of his unusual aspects. However, with so many different mechanisms between the parasite and its mammalian host there is still a lack of availability of effective antiparasitic drugs or disease treatments, specially in the chronic phase. This review highlights the fundamentals of the fasci- nating genetics and genomics of T. cruzi with emphasis in the differential mechanisms that could provide interesting therapeutic targets.Fil: Vazquez, Martin Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentin

Testing, Treatment, and Trust: Social Work Professional Development and the Genomics Revolution

Knowledge in the area of human genetics and genomics is expanding at an exponential pace, with significant implications for social work in health, mental health, and other settings. This article identifies some key roles social workers may play in the arena of genetics, discusses social workers responsibility for ongoing professional development in this area, and describes a flexible genetics and genomics social work curriculum developed by the authors. We provide an evaluation of pilot curriculum implementations, discuss ongoing strategies and barriers to dissemination, and make recommendations for future actions to more fully incorporate genetics and genomics content into the social work professional knowledge base

Validity Testing of the Genetics and Genomics in Nursing Practice Survey (GGNPS)

Genetics and genomics have the potential to change how health care providers screen for, diagnose, and treat diseases; as well as how they intervene to reduce disease risk. Because genetics/genomics play a role in disease prevention and health promotion, screening, diagnosis, treatment selection, and patient-education, all nurses must adopt genetics and genomics into clinical practice to provide competent care. The purpose of this study was to evaluate the face, content, and construct validity of the Genetics and Genomics Nursing Practice Survey (GGNPS). The GGNPS is an instrument designed to measure Registered Nurses’ (RNs) competency/knowledge, confidence, attitudes/receptivity and decision/adoption of genetics and genomics into nursing practice, as well as the effect of social systems. Validity testing of the GGNPS can increase its utility as part of a strategic pathway to achieve genetic/genomic competency among RNs. In this study, the thresholds for content and face validity were met, but construct validity was not established. Construct validity was evaluated via confirmatory factor analysis (CFA) and structural equation modeling (SEM). An ancillary analysis, which included exploratory v factor analysis (EFA), was used to further inform this study and guide construct validity evaluation in future studies

Assessing Genomic Literacy in Advanced Practice Nursing Students Before and After an Intervention

Introduction The purpose of this evidence-based Doctor of Nursing Practice (DNP) project was to examine genetics and genomics literacy in advanced practice nursing students before and after an intervention. Background As genomics continue to play an emerging role in healthcare, and advancements are introduced into clinical practice, it is critical that nurses be competent in genetics and genomics concepts. There is a fundamental need to incorporate genomics education into nursing school curriculum. However, studies have shown that the majority of faculty across nursing schools in the United States are ill-equipped to teach genetics and genomics concepts. Furthermore, many interventions to increase genetics and genomics literacy among nurses have resulted in minimal improvement. Methods Two cohorts totaling 25 advanced practice nursing students were administered the Genomic Nursing Concept Inventory (GNCI), a 31-question multiple choice questionnaire assessing 18 genomic concepts in four categories (Human Genome Basics, Inheritance, Mutations, and Genomic Health Care) before and after a semester-long educational intervention at the University of San Diego. 19 of the students had baccalaureate degrees in nursing (BSN), and 6 had master’s degree in nursing (MSN). The BSN cohort received the intervention with face-to-face instruction, while the MSN cohort received it as a virtual/hybrid course. One person in the BSN cohort did not take the pre-assessment but completed the post-assessment. Percentage of correct items and mean scores amongst the two cohorts were calculated and reported. Results Students in the BSN cohort had a slight increase in mean percentage score after the educational intervention, although not statistically significant (44% and 49%, respectively). Students in the MSN cohort had a decrease in mean percentage score in their post-intervention-assessment (38% and 35%, respectively). Conclusions Nurses continue to score poorly in genomics literacy, regardless of their level of education. There is limited evidence indicating what the most effective educational interventions are, and at what level of nursing education they should be taught. Additional research is needed to identify the most effective interventions to improve genomic literacy. Genomics curriculum should aim to align with existing genetics and genomics nursing competencies. Keywords: genomics, genetics, genomic education, genetics nurse, genomic concepts, nursing educatio

Towards Novel Nonparametric Statistical Methods and Bioinformatics Tools for Clinical and Translational Sciences

As the field of functional genetics and genomics is beginning to mature, we become confronted with new challenges. The constant drop in price for sequencing and gene expression profiling as well as the increasing number of genetic and genomic variables that can be measured makes it feasible to address more complex questions. The success with rare diseases caused by single loci or genes has provided us with a proof-of-concept that new therapies can be developed based on functional genomics and genetics. Common diseases, however, typically involve genetic epistasis, genomic pathways, and proteomic pattern. Moreover, to better understand the underlying biologi-cal systems, we often need to integrate information from several of these sources. Thus, as the field of clinical research moves toward complex diseases, the demand for modern data base systems and advanced statistical methods increases. The traditional statistical methods implemented in most of the bioinformatics tools currently used in the novel field of genetics and functional genomics are based on the linear model and, thus, have shortcomings when applied to nonlinear biological systems. The previous work on partially ordered data (Wittkowski 1988; 1992), when combined with theoretical results (Hoeffding 1948) and computational strategies (Deuchler 1914) has opened a new field of nonparametric statistics. With grid technology, new tools are now feasible when screening for interactions between genetics (Wittkowski, Liu 2002) and functional genomics (Wittkowski, Lee 2004). Having more complex study designs and more specific methods available increases the demand for decision support when selecting appropriate bioinformatics tools. With the advent of rapid prototyping systems for Web based database application, we have recently begun to complement previous work on knowledge based systems with graphical Web-based tools for acquisition of DESIGN and MODEL knowledge.Biostatistics Bioinformatics NIH NCRR ROADMAP