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Comparison of single-gene and genetically complex conditions
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International research efforts are resulting in a knowledge revolution which is constantly improving our understanding of the role of genetics and genomics in health and ill health. This first article in a two part series outlines the of this research and discusses its implications for healthcare.
Citations
... Given the current emphasis on genetics as a relatively new topic in the field of mainstream healthcare [13] [14] , it is interesting to note that authors Brantl & Esslinger [15] suggested that genetics should be included in nursing curricula almost fifty years ago. Despite this recommendation, medical genetics was not introduced into basic or advanced nursing education [16] [17] until after the turn of the century and it appears that genetics content in nursing curricula is still lacking. ...
... Given the current emphasis on genetics as a relatively new topic in the field of mainstream healthcare [13, 14] , it is interesting to note that authors Brantl & Esslinger [15] suggested that genetics should be included in nursing curricula almost fifty years ago. Despite this recommendation, medical genetics was not introduced into basic or advanced nursing education [16, 17] until after the turn of the century and it appears that genetics content in nursing curricula is still lacking. ...
Background: Given the current emphasis on genetics as a relatively new topic in the field of mainstream healthcare, it is interesting to note that authors suggested that genetics should be included in nursing curricula almost fifty years ago. Genetics has been important to the role of nurses in specific specialities for some years. However, some studies reported that the current training with respect to genetics for nurses did not enable them to acquire the necessary skills for their work. The aims and objectives of this review were to examine the available evidence on genetics knowledge of nurses. Methods: We conducted a systematic review. A search of British Nursing Index, CINAHL, Embase and Medline databases was undertaken for papers published in English between January 2001-September 2011. Six studies satisfied the inclusion criteria. Resukts: In three of the six studies included, the authors analysed the nurses' perceived knowledge in genetics while in only two studies the authors measured actual knowledge. However, both perceived and actual knowledge of genetics was poor. The amount of genetics education delivered to nurses in these studies was low overall. Conclusions: However, while genetic content is lacking on educational programs the findings confirm that nurses are open to genetics education and that this should be in a form that enables them to apply genetic principles to their everyday healthcare experience. In particular, integration between science and practice is required to enable nurses to fully utilise genetics for the benefit of patients. It is clear that further educational initiatives are required to equip nurses to practice safely and effectively in the post-genomic era.
... Nurse educators can make their students aware of the new research studies and their application to health care, and interpret these new discoveries to determine how they apply to health care, including how to evaluate the discovery against the ethical principles that guide the use of genetic and genomic information. This includes the current uses of genetic testing for rare and common diseases, gene-based treatments, and interventions, and the continuing importance of the role of family history in health and disease (Kirk & Tonkin, 2009). Nurse educators can include examples of the various applications of genetic testing in screening for risk for disease, diagnosis, and treatment decisions for rare and common diseases by integrating genetic and genomic concepts into courses such as pharmacology, maternal and child health, and adult health. ...
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 andresponsibly integrate new genetic-genomic information into practice.
Background:
Traumatic brain injury is a major cause of morbidity and mortality that affects military service members and veterans.
Purpose:
Explore the effects of ubiquinol before traumatic brain injury on cerebral gene expression to elucidate molecular mechanisms of ubiquinol neuroprotection.
Method:
In this experimental study, Fisher rats in the untreated (n = 2) and ubiquinol-treated (n = 2) groups received respectively either normal saline or ubiquinol 30 min before traumatic brain injury induced by controlled cortical impact. Ribonucleic acid sequencing and ingenuity pathway analysis were conducted to detect cerebral gene and signaling expression profiles.
Discussion:
In the ubiquinol-treated group, 67 ingenuity pathway analysis transcripts in the ubiquinol-treated group were statistically different from those in the untreated group (p <.0001).
Conclusions:
Administering ubiquinol 30 min before traumatic brain injury significantly affected cerebral gene expression profiles that may be involved in the most fundamental molecular mechanisms of bioenergetics and free radical production.
To develop and implement a methodology for capturing complete haematological malignancy pathway data and use it to identify variations in specialist palliative care (SPC) referrals.
In our established UK population-based patient cohort, 323 patients were diagnosed with acute myeloid leukaemia, diffuse large B-cell lymphoma or myeloma between May 2005 and April 2008, and died before April 2010. A day-by-day calendar approach was devised to collect pathway data, including SPC referrals, to supplement routinely collected information on clinical presentation, diagnosis, treatment, response, and date and place of death.
155 (47.9%) of the 323 patients had at least one SPC referral. The likelihood of referral increased with survival (OR 6.58, 95% CIs 3.32 to 13.03 for patients surviving ≥1 year compared to ≤1 month from diagnosis), and varied with diagnosis (OR 1.96, CIs 1.15 to 3.35 for myeloma compared to acute myeloid leukaemia). Compared to patients dying in hospital, those who died at home or in a hospice were also more likely to have had an SPC referral (OR 3.07, CIs 1.59 to 5.93 and 4.74, CIs 1.51 to 14.81, respectively). No associations were found for age and sex.
Our novel approach efficiently captured pathway data and SPC referrals, revealing evidence of greater integration between haematology and SPC services than previously reported. The likelihood of referral was much higher among those dying outside hospital, and variations in practice were observed by diagnosis, emphasising the importance of examining diseases individually.
Aim:
To report a study of Italian nurses' understanding of genetics. The objectives were to explore nurses' basic knowledge of genetics, their perceptions of the relevance of genetics and their opinions about the role of the genetic nurse.
Background:
As the knowledge of the genetic basis for disease has developed, pressure to give genetic healthcare services for a larger number of individuals has increased. Specialist genetic nurses currently work in many countries; however, there are very few specialist genetic nurses in Italy and the preparedness of Italian nurses to give care for people with or at risk for genetic conditions is unclear.
Design:
A cross-sectional survey.
Methods:
The survey was administered over 3 months during 2011. Registered Nurses aged 21-65 years were recruited via the website of the Italian nurse registration body, social network sites, hand-distributed flyers and email. Three hundred and eight-five (90%) nurses completed the survey. Data were analysed using descriptive statistics, Kruskal-Wallis tests for distribution and Spearman's Rho analysis of correlations.
Results:
The majority of respondents correctly answered at least four of five genetics knowledge questions. There were no statistically significant difference between knowledge scores when analysed according to age, but scores were positively correlated with higher academic qualifications and previous genetics education. A minority of respondents believed genetics was highly relevant to the nursing role.
Conclusion:
It is essential to ensure that educational provision for nurses includes not only the genetic concepts underpinning health and disease, but also how these are applied to nursing care.
To review the opportunities and possibilities for advancing oncology nursing competencies in genetic/genomics through the illustration of case scenarios in clinical care.
Literature; research reports.
Oncology nurses have the potential to influence whether or not cutting edge research discoveries are utilized at the bedside. Clinical integration of genetic/genomic information has the potential to optimize health outcomes and lengthen patient lives.
Oncology nurses need to include genetics/genomics in their practice in order to impact quality patient care today and for the future.
