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. Author manuscript; available in PMC: 2014 Mar 1.
Published in final edited form as: J Nurs Scholarsh. 2013 Jan 7;45(1):5–14. doi: 10.1111/jnu.12001

Table 1. Current and Emerging Genomic Approaches: Outcomes and Implications for Health Care.

Approach

Genome sequencing Genome-wide association studies Gene expression profiling Epigenomics
Outcomes Greater volumes of information processed faster and more cheaply, facilitating whole-genome sequencing, with accelerated scale and pace of gene discovery. Genetic variation between those with and without a specific disease identified through large population studies. Insights into the role of differential gene expression in normal biological and disease processes. Growing understanding of gene-environment interaction and influence on gene activity not involving the DNA sequence itself.
Clinical implications and possibilities More accurate and cost-effective diagnosis and genetic testing; earlier detection of disease and of those at risk for disease; antenatal testing using cell-free fetal DNA; pharmacogenomics; tissue typing and transplantation; rapid response to infectious disease outbreaks through pathogen sequencing. Greater knowledge of gene loci associated with a broad spectrum of diseases; helps identify genetic contribution to risk. Identifying genetic component(s) of common complex diseases helps identify potential targets for drug development. Potential for greater accuracy in diagnosis, individualized prognosis, targeted treatment, and post-treatment surveillance, particularly in oncology. Potential for manipulating epigenetic gene regulation through modifying environmental factors (e.g., nutrition). Of particular relevance during embryogenesis.
Implications for nursing education, practice, and research Education: Keeping up to date with advancing knowledge and understanding of disease mechanisms; educating others, including patients and their families.
Research: Recruiting patients to studies; building the evidence base for genomic health care in nursing practice.
Clinical care: Explaining complex risk; dealing with uncertainty; managing patient expectations; explaining treatment choices and targeted treatment.
Public health nursing: Managing public expectations of personal consumer genomics; translating epigenetic advances to health promotion and education; translating new knowledge to infectious disease management.
Ethical practice: Upholding autonomy and informed consent in research studies and genetic screening/testing using fresh and stored DNA; managing the implications of intended and incidental findings of (whole) genome sequencing; upholding privacy and confidentiality.
Nurse leadership: Leading in the translation of new knowledge and understanding into healthcare practices and pathways; driving policies to implement change in nursing regulation, practice, and education to promote competent, evidence-based and holistic care.