Search

Nurses have always been a cornerstone of healthcare literacy and education. It is essential that, in the complex and quickly changing world of genetics and genomics, they maintain this position. Genetics is the study of the function of a single gene; whereas genomics widens the view to include all genes, and their expression and effects on cell growth, utilizing DNA and bioinformatics (which is the use of biological knowledge to organize and analyze large amounts of data). Genomics includes the emerging fields of'omics,'such as proteomics (study of protein structures), metabolomics (study of chemical cellular metabolites), and transcriptomics (the study of RNA molecules).Nurses will soon become as familiar with the omics as they are with vital signs. They will blend this new knowledge into their patient care, while continuing to address, with patients and community members, the ethical, legal, and social implications (ELSIs) of future health interventions. These ELSI implications will require basic genetic and genomic health literacy and an understanding of the expectations of the public. The need for the nurse to have baseline competencies in these areas has been well established (American Nurses Association. 2006: Calzone et al.. 2012: Gelling, 2013). The multiple findings from studies that have explored health behaviors and attitudes towards genetic testing suggest that people want to know their genetic sequencing results, so as to better understand their personal health profiles (Haga et al., 2013: Hodgson & Gaff, 2013). The ever-expanding discoveries in genomics challenge the nurse to be competent in genomic medicine and knowledgeable in associated, and often difficult, ethical situations (Milton. 2012).The genomic revolution began with the completion of the sequencing of the human genome in 2003. In the past 10 years, we have seen almost daily releases of studies and reports linking specific changes in genomes with diseases. New genomic discoveries are visible in every arena. Over the past two decades, there has been a growing realization of the complexity of disease and the pathogenesis of both acute and chronic illness (Hamilton. 2009: Lea, 2008). We now know that cancer is not one disease; rather it occurs in different forms with each form being a different disease. Our understanding of several 'common' medical disorders now demonstrates that these disorders are anything but common; they differ in their predisposition, initiation, and path of progression. Something as prevalent as hypertension has proven to be a complex and confusing disorder with numerous etiologies and multiple triggers.Currently, whole genome sequencing (WGS) serves primarily as a research tool, but that is rapidly changing. We are now seeing the use of WGS in the clinical diagnosis and treatment of complex illnesses (Tabor. Berkman. Hull. & Bamshad. 2011). The impact of genomics research on healthcare and society depends on our ability to deal with the complexity of the genomic revolution and the integration of knowledge to inform our ethical, legal, and social issues (Milton. 2013).Ethical, Legal, and Social ImplicationsThe concepts of autonomy, respect, beneficence, nonmalificence, and justice provide ethicists with a common language and a set of beginning assumptions upon which they can discuss the dilemmas presented to them. Although these concepts can frame the discussion, they are limited in providing answers to the new and complex questions raised by genomics. For example, the concept of autonomy would support the right of persons to obtain their genomic information, but it could also be used to defend their right to refuse such information. Consider a woman who had been found to have a BRCA1 (breast cancer susceptibility gene) variant during genetic testing for a different disorder, in light of the concept of autonomy. She may choose not to learn the results of this incidental finding that she had not consented to. …