Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease

Genet Med. 2003 Jul-Aug;5(4):261-8. doi: 10.1097/01.GIM.0000076977.90682.A5.


This article reviews how the continuum and gradual shift from genetics (study of genes) to genomics (study of the whole genome) in medicine and public health will require reassessment of the traditional approach to delivery of genetic information, namely genetic services. A more general approach is needed to assess the value-added of genetic information for promoting health and for diagnosing, treating, predicting, and preventing all diseases, not only "genetic diseases." The article also discusses how family history can serve as a bridge from genetics to genomics in practice because it reflects the presence, not only of single-gene disorders, but also of shared genes, shared environments, and complex gene-environment interactions. Because of the expected volume of new genetic information, evidence-based practice should increasingly rely on scientific data on analytic performance of such information, its validity in predicting health outcomes, and its utility in improving health and preventing disease beyond approaches that do not use genetic information.

Publication types

  • Review

MeSH terms

  • Environment
  • Family Health
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics*
  • Genome*
  • Genome, Human
  • Humans
  • Public Health
  • Risk