Molecular genomic research designs.

In the last decade we have progressed from a rough draft of the human genome sequence to availability of an abundance of publicly available databases and high throughput data collection technologies to facilitate genetic and genomic study design. Genetic (focus on one gene at a time) and genomic (focus on entire genome as well as gene-gene interactions) research continues to hold great promise for understanding a wealth of human conditions, providing objective data for diagnosis and prognosis, informing therapeutics, and providing the cornerstone for evidence based practice for genomic health care (Green, Guyer, & National Human Genome Research Institute [NHGRI], 2011; Lander, 2011). The research programs of many nurse scientists are ripe for incorporating a genetic/genomic research component or movement of existing genetic or genomic research in a new direction. The goal of his paper is to bring together key information about designing studies with a molecular genetic or genomic focus coupled with dynamic resources offered to the reader to expand their understanding and ensure access to state of the science information. It is not meant to be an exhaustive resource, but one that sets the stage for contemplation of embarking on such research designs and key issues to ponder during study design phase. This paper is written for the researcher who has a basic understanding of genetics and is contemplating adding a genetic or genomic component to their research or designing the next step in their genetic or genomic program of research. Readers are encouraged to visit an extremely useful resource, the National Human Genome Research Institute’s talking glossary at http://www.genome.gov/glossary, for clarification of unfamiliar terms and expansion of knowledge about genetic terminology. Technology to collect genetic and genomic data changes rapidly, therefore proper study design, and selection of appropriate methodology to accomplish a study also change rapidly. This paper incorporates a large number of online resources that are continuously updated in an attempt to keep the paper as up to data as possible. Readers are encouraged to visit these online resources when designing their study to ensure that their study design is state of the science.