The completion of the Human Genome Project in 2003 led to an explosion of potential for applying genetics and genomics into health care. The expanding availability of genomic information highlights the role genetics plays in all aspects of health across the lifespan, from preconception genetic counseling to cancer treatment (Rehm, 2017). Genetics is the study of single gene composition, function, and heredity; genomics considers the interaction of all genes within the genome and their combined influences on patterns of development and pathologic consistencies (Hillman & Dale, 2017). The focus of genomics in health care is now transitioning from diagnosing single-gene rare conditions to identifying risk factors for and patterns within more prevalent conditions such as diabetes, obesity, asthma, cancers, and mental health conditions (Feero & Guttmacher, 2014). The purpose of this article is to review the growing significance of genetics and genomics in primary care delivery, discuss the challenges of genetic and genomic competence in nurse practitioner (NP) education, and showcase one strategy for student learning and competence. The two terms, genetics and genomics, are used throughout the article because both are relevant to the discussion and both terms appear frequently in the nursing education resources on the topic (American Association of Colleges of Nursing, 2013; Greco, Tinley, & Seibert, 2011).
As researchers better understand the interaction among environmental, behavioral, and genetic factors in determining health risks and outcomes, health care must evolve to further integrate genomic concepts in individualized care and move toward precision medicine (Rehm, 2017). Precision medicine is an approach to care that considers individual variability in the genes, environment, and lifestyle of each person (National Institutes of Health, 2015). Early identification of genetic variables in patient conditions allows more specific anticipatory guidance, monitoring, screening, and better prioritization of treatment options (Aronson & Rehm, 2015). At least 10% of patients seen in primary care may have a condition with a genetic contribution; this percentage is expected to increase with continued research (Paneque et al., 2016). A systematic review of admissions to a children's hospital in 1 year revealed 71% had a disorder with a genetic determinant and 96% of admissions due to chronic disorders had a genetic etiology (Francescatto & Katsanis, 2015). As the role of genetics grows in both preventive and diagnostic care, primary care clinicians, including NPs, are in a prime position to apply genetic understanding for earlier diagnosis and intervention to ultimately improve patient outcomes (Rinke et al., 2014). To provide cutting-edge care, clinicians must learn to incorporate genomic principles in patient encounters, transitioning from considering genetics as solely rare genetic diseases to examining the role genetic factors play in all aspects of health (Feero & Guttmacher, 2014). Some experts are encouraging all primary care providers to integrate genetic thinking when encountering all patients (Scott & Trotter, 2013).
More than 50,000 genetic tests are already in use across the world and approximately 10 new testing products consisting of single gene and panel tests are developed every day (Concert Genetics, 2017). Newborn screening, widely used by pediatric practitioners, is an application of genetic testing performed on asymptomatic infants to detect congenital diseases prior to detrimental sequelae, allowing early intervention to reduce morbidity and mortality (Francescatto & Katsanis, 2015). Since its introduction in the 1960s for the detection of phenylketonuria, the recommended universal newborn screen has snowballed and currently includes 34 core and 26 secondary disorders; newborn screening is one of the largest and most successful disease prevention systems (NewSTEPs, n.d.). Recent progress in genomics research has allowed new genetic testing and application, including diagnostic and carrier testing for inherited conditions, presymptomatic and predictive testing for individuals with genetic susceptibility disorders, risk factors for later onset conditions, and biomarkers that guide individual treatments (Francescatto & Katsanis, 2015; Larson & Wilke, 2015). Testing has generally become less expensive, faster, and more sensitive (Rehm, 2017). The vast majority of variants identified have unknown significance; however, the data sharing on databases allows more accurate interpretation of variants to pave the way for new diagnostic markers of disease and precision medicine (Rehm, 2017).
As exciting as these developments are, the pace of innovation is outstripping optimal integration into primary care practice (Rehm, 2017). Both the general public and health care providers have limited genetic literacy, and implementation of new genetic applications in primary care are substandard (Arora et al., 2017). The past focus of genetics on rare diseases makes it difficult for primary care providers to understand the relevance of genetics and genomics in everyday practice (Saul, Trotter, Sease, & Tarini, 2017). In a recent survey of primary care providers, less than 10% ordered genetic tests for patients they identified as at risk and instead referred to a genetic specialist. Identified barriers were lacking confidence in interpreting and explaining genetic test results, insufficient training identifying genetic risks and choosing appropriate tests, and absence of guidelines for management (Saul et al., 2017). Similarly, primary care NPs reported insufficient knowledge regarding genetics and risk assessment, overall lack of genetic resources, and time as barriers (Mikat-Stevens, Larson, & Tarini, 2014; Seibert, 2014).
Practice standards and competencies guide all aspects of advanced practice nursing by outlining essential behaviors all NPs must perform proficiently. Professional organizations recognize the importance of integrating genetics and genomics into advanced practice nursing, which is reflected in the current competencies. In 2004, the National Human Genome Research Institute and the National Cancer Institute initiated the compilation of nursing competencies for genetics after identifying the pressing need for its broad understanding among oncology nurses. The project expanded to define essential genetic and genomic competencies for all nurses, regardless of academic preparation, role, or clinical specialty (Eggert, 2017). The competencies were crafted by an independent panel of nurse leaders from clinical, research, and academic settings and were endorsed by 48 nursing organizations before publication by the American Nurses Association in 2006 (Kelly, 2009). In 2011, the American Nurses Association published Essential Genetic and Genomic Competencies for Nurses With Graduate Degrees (Greco, Tinley, & Seibert, 2011). Included are 38 competencies in seven categories: risk assessment and interpretation; genetic education, counseling, testing, and results interpretation; clinical management; ethical, legal, and social implications; professional role; leadership; and research (Greco et al., 2011). Population-Focused Nurse Practitioner Competencies, developed by the National Organization of Nurse Practitioner Faculties in 2013, specified genetic competencies for primary pediatric, family, neonatal, and women's health NPs (American Association of Colleges of Nursing, 2013).
For advanced practice nurses (APNs) in primary care, genetic and genomic competency includes risk assessment and test interpretation, requiring a complete history and physical and a comprehensive family health history, a powerful tool for assessing risks for Mendelian and multifactorial genetic disorders (Greco et al., 2011). The family history is considered by some genetics educators as the most powerful initial genetic “test” (Scott & Trotter, 2013). APNs must be proficient in identifying important findings in the family health history to help identify individuals and families at higher risk for genetic conditions. APNs must be able to explain findings from the family history, physical assessment, and diagnostic and laboratory tests to patients and families then make appropriate referrals (Greco et al., 2011). This is critical because provision of incomplete information can be detrimental to patient outcomes (Whitt, Hughes, Hopkins, & Maradiegue, 2016).
Although assimilating genetic and genomic principles into primary care is recognized, it is unclear how clinicians can best meet these standards (Hillman & Dale, 2017). One strategy is for clinicians to work frequently with genetic teams to continuously update their knowledge (Hillman & Dale, 2017), which is not feasible for most clinicians. The American Academy of Pediatrics Quality Improvement Innovation Networks studied the effectiveness of a continuing education intervention with 13 pediatric practices using regular educational opportunities, access to genetic professionals, and performance feedback (Rinke et al., 2016). This multifaceted approach resulted in sustained improvement in the inclusion of genetic and genomic behaviors. Another study reported on a 15-week online graduate NP genetics course covering basic genetic knowledge, ordering genetic tests, predicting genetic risk, collecting family health history, discussing genetic diagnoses, and using genetic resources (Whitt, Macri, O'Brien, & Wright, 2016). Students were significantly increasing their knowledge of basic genetic topics, conditions, and inheritance patterns and were more confident applying genetic skills in practice. A systematic review of genomic training for nongenetics health professionals showed only four of 44 studies reporting statistically significant changes in practice behavior (Talwar, Tseng, Foster, Xu, & Chen, 2016). Focusing on changing primary care providers' awareness of genetics, enhancing their ability to find relevant information, and training students to develop a framework for incorporation of genetics may be an effective approach to increasing genetic and genomic competency for primary care providers (Kemper et al., 2010; Paneque et al., 2016).
The following case study demonstrates how genetic and genomic competencies were learned in a primary care pediatric nurse practitioner. Three pediatric nurse practitioner students, one per semester, completed an elective rotation in pediatric genetics as part of the Masters of Science in Nursing program at a large university in the United States. This elective rotation was through the associated hospital's Institute of Genetic Medicine. The institute provides outpatient services to those with a wide scope of general and subspecialty genetics indications, and the rotation consisted of a weekly 8-hour clinic. The learning experience was interprofessional and included interaction with a variety of other learners, including medical, genetic counseling, graduate genetics students, pediatric residents, and medical genetics fellows. All trainees were supervised by a mix of pediatricians, geneticists, and certified genetic counselors. Prior to each weekly clinic, students were assigned specific patients to research and review unfamiliar conditions. The NP preceptor, a pediatrician, and a geneticist encouraged trainees in genetic thinking, where the learners approach each patient and family comprehensively regarding genetics. The preceptor provided relevant articles to the students, and students learned to access national genetic resources to foster their individual learning.
Students provided initial evaluation and follow-up care for patients with a wide variety of conditions, such as Ehlers-Danlos syndrome, partial androgen insensitivity, sagittal synostosis, and hearing loss. The goal of the rotation was not to gain a complete overview of the many conditions with a genetic component, but rather to develop an understanding of the best approach to identify and manage a genetic problem and gain familiarity with some common conditions. Accordingly, the rotations emphasized the importance of collecting relevant information by performing a thorough family history and learning where to gather accurate information related to genetic conditions. Students were encouraged to investigate presenting symptoms and congenital anomalies of various patients through online resources, such as Online Mendelian Inheritance in Man® database, GeneReviews®, Genetics Home Reference®, and the American College of Medical Genetics™. To gain self-sufficiency and applicable skills for primary care practice, students used these resources for investigating both identified genetic conditions and to develop differential diagnoses for seemingly unrelated findings.
Regarding evaluation, at the end of each semester, NP students complete evaluations of their clinical learning and faculty review these evaluations to better understand student learning potential and to determine the best future use of each site. Regarding these three NP students with rotations at the Institute of Genetic Medicine, the NP preceptor (pediatrician and geneticist) and pediatric nurse practitioner faculty track coordinator had additional discussions with each student to further understand their learning and experiences at the specialty site and to adjust the experience for future students accordingly.
Throughout the clinical rotation, students perfected the skill of completing a patient's pedigree by collecting a three-generational family health history. This reinforced their focus on creating a comprehensive picture to assist in identifying genetic red flags. Each family health history included questions related to consanguinity or close biological relationships between family members, history of multiple miscarriages, known genetic conditions or testing results, congenital anomalies, sudden unexplained death at a young age, intellectual or learning disabilities, multiple family members with similar or related disorders, and the ethnic background of the family. Student learning assignments related to the clinical experience included writing case studies with differential diagnoses, class presentations, and personal and professional recordings and reflections in a clinical log.
Through exposure to multiple genetic consultations, the students gained an understanding of foundational skills for incorporating genetics and genomics into primary care practice. Solidifying assessment skills strengthened the students' confidence in evaluating genetic contributions to health and disease. They also learned where to access genetics resources and clinical tools for future patients. The most salient component of the rotation was the shift in students' awareness of where and when to apply genetic thinking to identify risk factors in all patients and families, allowing more precise recommendations for better individual health. Through gaining an in-depth understanding of the important role genomics plays in the pediatric primary care population and consistently performing risk assessments in the forms of individual history and physical and three-generational family history, students were more competent to care for their future patients and families.
Discussion and Conclusion
Primary care NPs must learn to integrate genetic thinking in all patient encounters, thereby routinely incorporating genetics and genomics into their clinical practice to meet the standards outlined by current APN competencies. Despite of many barriers, two specific objectives could be targeted to improve genetics confidence and application. First, NPs must be competent in collecting a family health history, and second, NPs must have a thorough understanding of genetic resources. Although primary care practitioners state that they understand the importance of assessing a patient's risk factors for a given disease, especially the importance of taking a family health history, less than one third of practitioners actually gather a three-generational family health history for all patients (Rinke et al., 2014; Saul et al., 2017). More than half of practitioners did not have adequate resources to determine the appropriate genetic test to order and almost half were not aware of a national resource to provide them with accurate genetic information and services (Rinke et al., 2014). Both of these objectives, collecting a family health history with a specific understanding of assessing for genetic red flags and having a comprehensive understanding of available genetic resources, can be easily incorporated into training for NPs, as demonstrated in the case study presented.
In summary, the inclusion of a genetics clinical rotation in a primary care NP graduate program provides an excellent opportunity for NP students to assimilate emerging genetic recommendations into practice. By practicing foundational skills for risk assessment and information gathering in an environment where genetic specialists are at hand to guide education, NP students develop genetic thinking that will ultimately improve the care they provide to patients. If NPs are to provide optimal primary care by incorporating the competencies prescribed by professional organizations, finding better ways to integrate genetic thinking into primary care NP education is imperative. A genetics clinical rotation has the potential to provide an educational experience that will lead to long-lasting improvements in primary care practice.
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