Genetics and Genomics in Nursing Research

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Abstract

G enomic research has been facilitated by large-scale projects, such as the Human Genome Project and the International HapMap Project, and will continue to be facilitated by additional endeavors, such as the 1000 Genomes Project. However, without scientists to use these resources and apply them to the health of the population, the full potential of integrating genomic findings into health care will go unrealized. Nurse scientists are well poised to conduct this type of translational research, integrate the findings into the health care system, and have a profound impact on genomic health care. This special issue, ‘‘Genetics and Genomics in Nursing Research,’’ highlights the impact that genetics and genomics can have on clinically relevant topics and that nurse scientists are currently having in the field. The pace of the contributions of nurse scientists to the genetics and genomics literature continues to accelerate. The response to the call for papers for this special issue was impressive and further indicates the extent to which nurse scientists are integrating genetic and genomic approaches into their research trajectories. Each of the papers selected for this special issue has content relevant to patient issues and translation to nursing practice. In addition to these articles, I strongly encourage readers to examine a white paper developed through the American Academy of Nursing, entitled ‘‘Nurses Transforming Health Care Using Genetics and Genomics’’ (www. aanet.org). This compilation of important information highlights the integral role nurses play in incorporating genetic and genomic information into the health care system. The reports of original research that I selected for this special issue demonstrate the breadth of genetic and genomic research being conducted by nurse scientists and can be categorized by three approaches: gene expression studies, candidate gene association studies using unrelated individuals, and candidate gene mutation discovery studies using related individuals. Dorsey et al. used a whole-genome approach to investigate gene expression and examine the phenotype of peripheral neuropathy associated with nucleoside reverse transcriptase inhibitors for HIV treatment. Using a mouse model, they report a novel finding that implicates Gan1 gene expression in this phenotype, suggesting a potential molecular target for this side effect of HIV treatment. Dungan et al. also used a gene expression approach; however, they focused their study on a biologically relevant candidate gene. Using internal mammary artery tissue that normally would be discarded following coronary artery bypass graft surgery, they report a reduction in b-2-adrenoceptor gene expression in participants with hypertension compared to normotensive participants. This finding potentially explains the impaired adrenoceptor-mediated vascular tone noted in hypertension. Aouizerat et al. took a candidate gene association approach by focusing on a functional promoter polymorphism in the tumor necrosis factor-a gene for potential impact on sleep disturbance and fatigue in oncology patients and their caregivers. They found an association for the minor allele with severity of sleep disturbance and morning fatigue in these participants, suggesting a role for this proinflammatory cytokine in symptoms that are commonly reported by oncology patients and their caregivers. Alexander et al. focused on variation in the endothelial nitric oxide synthase gene using tagging single nucleotide polymorphisms (SNPs) to investigate the impact of this gene on outcomes after aneurysmal subarachnoid hemorrhage. Their data suggest that this gene is involved in recovery at 6 months post rupture likely due to its role in cerebral vasospasm. Taylor et al. investigated genetic and environmental impact on From the University of Pittsburgh, Pennsylvania.