Primer in Genetics and Genomics, Article 5-Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype-Phenotype Associations

Biol Res Nurs. 2017 Oct;19(5):576-585. doi: 10.1177/1099800417725190.


As nurses begin to incorporate genetic and genomic sciences into clinical practice, education, and research, it is essential that they have a working knowledge of the terms foundational to the science. The first article in this primer series provided brief definitions of the basic terms (e.g., genetics and genomics) and introduced the concept of phenotype during the discussion of Mendelian inheritance. These terms, however, are inconsistently used in publications and conversations, and the linkage between genotype and phenotype requires clarification. The goal of this fifth article in the series is to elucidate these terms, provide an overview of the research methods used to determine genotype-phenotype associations, and discuss their significance to nursing through examples from the current nursing literature.

Keywords: genomics; genotype; nursing research; phenotype; symptom science.

MeSH terms

  • Adult
  • Female
  • Genetic Association Studies / classification*
  • Genomics / classification*
  • Genomics / education*
  • Genotype*
  • Humans
  • Male
  • Middle Aged
  • Nursing Staff / education*
  • Phenotype*