Genomics education for advance practice nurses: Staying cutting edge.

ABSTRACT: As we celebrate the 20th anniversary of sequencing of the human genome and the rapid integration of genetics in health care, we pause to reflect on the status of genomic competency in nursing. The literature provides evidence that nurses do not feel prepared or confident in genomics. Genomic education for nurses and other health care professionals can support access and equity in the integration of genomics into practice. Resources are provided to support genomic education and clinical support.

Essential genomic knowledge in graduate nursing practice.

BACKGROUND: Genetics-informed nursing is essential to personalized health care. Advanced practice nurses will increasingly encounter genomic information in clinical care and are expected to have competency. PURPOSE: To examine genomic competency of advanced practice nursing students and faculty in a graduate nursing school. METHODS: A convenience sample of graduate nursing faculty and students were electronically sent a survey assessing genomic knowledge. In total, 13.98% of faculty (33/236) and 9.87% of students (82/831) completed a demographic questionnaire, perceived genomic competency items, and Genomic Nursing Concept Inventory (GNCI). The GNCI is a 31-question multiple choice questionnaire assessing 18 genomic concepts in four categories (Human Genome Basics, Mutations, Inheritance Patterns, and Genomic Health care). Percentage of correct items was calculated for faculty and students, as were correlations between demographics, perceived genomic competency, and GNCI scores. RESULTS: Students' GNCI overall scores were higher than faculty, 54.8% (interquartile range [IQR] 38-72%) vs 48.4% (IQR 32-68%). Both groups demonstrated the lowest scores in Genomic Basics (students 41.7% [IQR 25-67%] and faculty 33.3% [IQR 16-50%]). Students' and faculty's perceived genomic competency correlated with GNCI scores ( r = 0.49, p < .001 and r = 0.70, p < .001, respectively). Age ( r = -0.40, p < .001), entering nursing school after 2010 ( r = 0.47, p < .001), and previous genomics course ( r = 0.52, p < .001) were significantly correlated with GNCI total score for students, but not faculty. CONCLUSIONS: This study indicates that faculty and students in a graduate nursing school perceive and demonstrate low genomic knowledge, particularly in basic genomics. Further exploration into innovative methods to provide basic genomic education is needed. IMPLICATIONS: To provide access and equity for personalized genomic-based health care, we must prepare genomics-informed nurses.

Patient perspectives on variant reclassification after cancer susceptibility testing.

BACKGROUND: Little is known about the impact of reclassification on patients' perception of medical uncertainty or trust in genetics-based clinical care. METHODS: Semistructured telephone interviews were conducted with 20 patients who had received a reclassified genetic test result related to hereditary cancer. All participants had undergone genetic counseling and testing for cancer susceptibility at Vanderbilt-Ingram Cancer Center Hereditary Cancer Clinic within the last six years. RESULTS: Most of the participants did not express distress related to the variant reclassification and only a minority expressed a decrease in trust in medical genetics. However, recall of the new interpretation was limited, even though all participants were recontacted by letter, phone, or clinic visit. CONCLUSION: Reclassification of genetic tests is an important issue in modern healthcare because changes in interpretation have the potential to alter previously recommended management. Participants in this study did not express strong feelings of mistrust or doubt about their genetic evaluation. However, there was a low level of comprehension and information retention related to the updated report. Future research can build on this study to improve communication with patients about their reclassified results.

Genomics to personalize care of prostate cancer.

Prostate cancer is one of the most common cancers for men in the United States. Nurse practitioners need to understand oncology care and potential applications of genetic and genomics for men with prostate cancer. Genetic testing options are available to assist in decision making regarding screening for prostate cancer and the treatment of prostate cancer. Translating and integrating genomic test results can assist health care providers, patients, and their families to determine optimal and personalized oncology care in prostate cancer.

Use of PHQ-9 and pharmacogenetic testing in clinical practice.

BACKGROUND: This project evaluated the clinical use of pharmacogenetic testing in an outpatient psychiatric practice, integrated a standardized measure for assessing depressive symptoms, and captured data regarding treatment efficacy. LOCAL PROBLEM: According to the Centers for Disease Control and Prevention (2016), more than 10% of all outpatient office visits include a depression-related diagnosis. Patients who require more medication trials to experience remission of depressive symptoms are more likely to relapse in the follow-up period than those who do not (National Institute of Mental Health, 2001). METHODS AND INTERVENTIONS: Baseline Patient Health Questionnaire-9 (PHQ-9) scores and medication regimens were recorded for 15 adults with major depressive disorder who completed pharmacogenetic testing. Repeat PHQ-9 scores and medication regimens were recorded at follow-up appointments within 6 weeks post-pharmacogenetic testing and compared with baseline data. RESULTS: The PHQ-9 scores ranged from a 5-point reduction to a 2-point increase in depressive symptoms at follow-up appointment. The PHQ-9 scores were lower at follow-up screening for 14 participants. Six of the 15 participants were on a single medication, with significant drug-gene interactions. Medications with significant drug-gene interactions were eliminated from the regimen for three of the six patients. For the remaining three patients, providers deemed it to be reasonable to continue the medications with significant drug-gene interactions. CONCLUSIONS: Pharmacogenetic testing is a useful clinical tool for guiding medication selection but does not replace provider judgment. Drug-gene interaction testing results should be considered in addition to patient preference, medication cost, possible side effects, and immediate clinical needs.

Metastatic Prostate Cancer: Effects of Genetic Testing on Care.

The National Comprehensive Cancer Network now recommends BRCA1/2 genetic testing in men with metastatic prostate cancer. The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. The potential impact of genetic testing on systemic treatments and the significance of the pathogenic results for at-risk family members is discussed.

Genomics of Prostate Cancer: What Nurses Need to Know.

OBJECTIVE: To review the current state of genomics and genetic testing in prostate cancer. DATA SOURCES: National guidelines, evidence-based summaries, peer-reviewed studies, and Web sites. A case study is presented to illustrate key points. CONCLUSION: Genetic profiling of prostate cancer tumors (somatic) and genetic testing of men with aggressive or metastatic disease (germline) are available. IMPLICATIONS FOR NURSING PRACTICE: Nurses have a role in personalized health care and should be familiar with genetic testing options in prostate cancer because results may have implications for treatment options and at-risk family members. Hereditary cancer genetics can be complex and referrals to genetics specialists should be considered for hereditary cancer risk assessment and possible genetic testing.

Sleep-wake disturbances in cancer patients: narrative review of literature focusing on improving quality of life outcomes.

PURPOSE: Evidence suggests a high prevalence of sleep-wake disturbances in patients with cancer, occurring at diagnosis, during treatment, and continuing to survivorship. Yet associations between sleep-wake disturbances and the impact on quality of life outcomes is less clear. The purpose of this narrative review of the literature is to evaluate sleep-wake disturbances in patients with cancer, to describe the influence of poor sleep on quality of life as an outcome, and to evaluate the evidence to recommend future interventions. FRAMEWORK AND METHODS: This review was guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) approach. Four databases (CINAHL, MEDLINE, PsycINFO, and Embase) were searched using terms "cancer OR neoplasm", "sleep, sleep disturbance, sleep disorders or insomnia", and "quality of life"; the search included all years, English language, and peer-reviewed articles on research studies. Studies included measurements of sleep and quality of life in cancer patients at a minimum of two time points and demonstrated relationships between sleep and quality of life. Data were collected on date, patient demographics, cancer type and treatment, timeframe, design, measurement, variables, and results. RESULTS: This narrative review demonstrates that sleep-wake disturbance is a major problem/symptom in patients with cancer. Of the 18 studies included, measurement of sleep-related variables included objective and subjective measures; however, direct measurement of the associations between sleep and quality of life was not common. Cognitive behavioral therapy for insomnia and mind-body interventions demonstrated feasibility when implemented into cancer care settings. In addition, the majority of interventions exhibited moderate effectiveness in improving sleep-wake disturbance and quality of life outcomes. CONCLUSION: The studies predominantly reported that poor sleep negatively impacts quality of life. The intervention studies included nonpharmacologic interventions such as cognitive behavioral treatment and mind-body and exercise interventions with moderate-to-high levels of evidence for improvement in sleep measures and quality of life.

Decision making after BRCA genetic testing. Down the road of transition.

The purpose of this study was to evaluate women who have completed hereditary cancer risk assessment and BRCA genetic testing to determine if they considered themselves prepared to proceed with decision making regarding cancer screening and prevention options. Levels of decisional conflict were explored, as was their preference for information delivery. The prospective, descriptive survey was conducted at a breast and clinical genetics clinic at a comprehensive cancer center in the northeastern United States. Twenty-seven female participants completed the Preparation for Decision Making scale, Decisional Conflict Scale, and a demographic questionnaire. Scores were consistent with high levels of preparation for decision making and low decisional conflict. The face-to-face approach was the preferred method for information delivery. Subgroup analysis demonstrated a difference in the measured objectives based on cancer status but not based on BRCA status. The current information delivery approach is meeting the decision-making needs of women considered to be at increased risk for hereditary breast and ovarian cancer.