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. |