Development of the essential genetic and genomic competencies for nurses with graduate degrees.

Scientific advances in genetics and genomics are rapidly redefining our understanding of health and illness and creating a significant shift in practice for all health care disciplines. Nurses educated at the graduate level are well-prepared to assume clinical and leadership roles in health care systems and must also be prepared to assume similar roles related to genetic/genomic health care. This chapter describes the processes used to create a consensus document identifying the genetic/genomic competencies essential for nurses prepared at the graduate level. Three groups were involved in the competency development; a steering committee provided leadership and used qualitative methods to review and analyze pertinent source documents and create an initial competency draft; an advisory board evaluated and revised the draft, and a consensus panel refined and validated the final set of competencies. The concensus process resulted in 38 competencies organized under the following categories: risk assessment and interpretation; genetic education, counseling, testing and results interpretation; clinical management; ethical, legal, and social implications; professional role; leadership, and research. These competencies apply to all individuals functioning at the graduate level in nursing, including but not limited to advanced practice registered nurses, clinical nurse leaders, nurse educators, nurse administrators, and nurse scientists and are intended to inform and guide their practice.

Barriers and facilitators to electronic documentation in a rural hospital.

PURPOSE: The purpose of the study was to explore nurses' perceptions of barriers and facilitators to adoption of an electronic health record (EHR) in a rural Midwestern hospital. DESIGN: This study was a qualitative, descriptive design. The Staggers and Parks Nurse-Computer Interaction Framework was used to guide directed content analysis. METHODS: Eleven registered nurses from oncology and medical-surgical units were interviewed using three semistructured interview questions. Predetermined codes and operational definitions were developed from the Staggers and Parks framework. Narrative data were analyzed by each member of the research team and group consensus on coding was reached through group discussions. FINDINGS: Participants were able to identify computer-related, nurse-related, and contextual barriers and facilitators to implementation of EHR. In addition, two distinct patterns of perceptions and acceptance were identified. CONCLUSIONS: The Staggers and Parks Nurse-Computer Interaction framework was found to be useful in identifying computer, nurse, and contextual characteristics that act as facilitators or barriers to adoption of an EHR system. Acceptance and use of an EHR are enhanced when barriers are managed and facilitators are supported. CLINICAL RELEVANCE: Understanding and management of facilitators and barriers to EHR adoption may impact nurses' ability to provide and document nursing care.

Five families living with hereditary breast and ovarian cancer risk.

This qualitative study explores the communication and decision-making strategies of five families with hereditary breast and ovarian cancer (HBOC) risk.Investigators asked female carriers of BRCA1 and BRCA2 genetic mutations to recall early knowledge and experiences concerning cancer risk.Husbands and children (aged 15-25 years) of women with HBOC risk also were interviewed on knowledge, experiences, and expectations for future decisions regarding their risk.Themes derived from the interviews suggested a need for additional studies of families with HBOC risk to address how family history and other factors influence decision making.Nurses should assess patients and their families for issues with body image and adjustment after cancer treatment and offer appropriate support.In addition, parents should be advised on when and how to tell children about their potential risk and support their testing and health-promotion decisions.

Familial adenomatous polyposis in children younger than age ten years: a multidisciplinary clinic experience.

PURPOSE: Children with familial adenomatous polyposis have a greater mortality and morbidity in the first decade of life compared with the general population. Some children with a more severe disease phenotype present early with colorectal adenomata and may require colectomy at an early age. We present our multidisciplinary clinic experience with familial adenomatous polyposis in children younger than age ten years at the time of presentation. METHODS: A cross-sectional analysis was performed on all patients with suspected or confirmed familial adenomatous polyposis presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at our institutions. Analysis included demographics, clinical presentation and course, gene mutation testing, endoscopic-histologic findings, and surgical outcome. RESULTS: Twenty-two children (11 males) presented with suspected or confirmed familial adenomatous polyposis. Two were discharged from follow-up after negative adenomatous polyposis coli gene mutation testing. The rest underwent annual hepatoblastoma surveillance through age ten years with negative findings. Twelve patients presented with symptoms: six had de novo familial adenomatous polyposis. Seven had gastrointestinal hemorrhage and went on to colonoscopy. Four patients with adenomatous polyposis coli gene mutation at codon 1309 were referred for colectomy before age ten years. Referral to colectomy was earlier in patients with 1309 mutation and with de novo familial adenomatous polyposis. CONCLUSIONS: Children with familial adenomatous polyposis younger than age ten years may present presymptomatically for disease surveillance. Familial adenomatous polyposis with adenomatous polyposis coli gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation.

Three philosophical approaches to the study of spirituality.

Since the turn of the century, there has been an expanded interest in the place that spirituality has in nursing practice, education, and research. The purpose of this article is to examine the study of spirituality from the perspective of 3 philosophical paradigms: empiricism, interpretivism, and poststructuralism. The strengths and weaknesses of the paradigms are identified through a review of an exemplar article for each. Each paradigm provides a unique approach to the development of knowledge, and thus makes its own contribution to the understanding of spirituality. It is the researcher's responsibility to identify the appropriate paradigm for the question.

Challenging pedigrees seen in a hereditary cancer consultation center.

The clinical translation of the significance of cancer "running in families" has become a source of major contention as a result of the explosion of knowledge about cancer causality at the molecular level. At the clinical level, the increasing awareness of the familial and hereditary burden of cancer has contributed heavily to both physician and lay concern about cancer risk. Problems in interpretation of the significance of a cancer family history may arise due to a variety of factors, and even if the physician correctly diagnoses a hereditary cancer-predisposing syndrome there may still be barriers to patient compliance with surveillance and management recommendations. Our purpose is to discuss a variety of potential barriers in the diagnosis and management of patients at increased hereditary cancer risk, drawing on examples from a cohort of approximately 300 families evaluated at Creighton University's Hereditary Cancer Consultation Center over 8 years. Each case was selected because of the presence of one or more clinical, pathologic, molecular genetic, psychosocial, economic, confidentiality, or insurance or employment discrimination factors that had the potential to pose an obstacle in diagnosis or in patient compliance with screening and management recommendations.

Screening adherence in BRCA1/2 families is associated with primary physicians' behavior.

This study provides an assessment of long-term breast and ovarian cancer screening behaviors and the variables associated with adherence with screening among women with or at 50% for having a BRCA1/2 mutation. Participants in the study included 112 women (33 mutation carriers and 79 at 50% risk). Data was collected through a mailed questionnaire, which included items to assess screening behaviors in the last 2 years, risk perception, cancer specific distress, adherence determinants, specific barriers, and cancer history. Statistical analysis included descriptive statistics and non-parametric tests to describe bivariate associations and regression analysis. Adherence rates were 72% for annual mammography, 21% for semi-annual clinical breast exam (CBE), 29% for monthly breast self-exam (BSE), and 19% for annual transvaginal ultrasound (US). Only one participant was adherent with semi-annual CA125. Variables that had a significant association (P < 0.05) with at least one screening modality included: a lack of time, marital status, education, cancer history, provider concern, perceived screening utility, confidence in ability to overcome barriers, cancer specific distress, and risk perception. Primary physician behavior, either in terms of screening recommendations or screening performance in the case of CBE, had significant independent association with adherence to mammography, CBE, and US screening recommendations. The results of this study highlight the essential role that primary physicians play in supporting their very high-risk patients' adherence.

Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns.

Hereditary polyposis syndromes show extensive phenotypic and genotypic heterogeneity within and among families, a situation that may hinder diagnosis. In these settings, germline mutation testing may be the sine qua non for diagnosis if such a mutation is identified in a patient or family. We provide examples of phenotypically differing polyposis pedigrees depicting various challenges in hereditary polyposis syndrome diagnosis. Our purpose is to augment physician understanding of phenotypic variation and thus help identify high-risk presymptomatic family members who could benefit from highly targeted surveillance and management strategies. We describe nine familial polyposis pedigrees displaying anecdotal clinical problems that can confound the differential diagnosis. Emphasis was given to a multidisciplinary approach focusing on pathological confirmation with respect to number, histology, and location of polyps in the gastrointestinal tract; a detailed family history of cancer at all anatomic sites; noncancer phenotypic features of hereditary polyposis syndromes; and appropriate molecular genetic testing in concert with genetic counseling. Improved physician understanding of the clinical natural history features, genetic transmission patterns, and appropriate gene testing will help in diagnosis and, ultimately, surveillance and management for the various hereditary polyposis syndromes.