Feature Article

Genomics: what it means for patients and GPs



© natali_mis/istockphoto.com
© natali_mis/istockphoto.com


Genomics is an important emerging field in medicine that will have increasing relevance in general practice. This article outlines the current utility of genomics and provides information to enable discussion about the application of genomics.

Key Points

  • Over the past decade genomic testing has become more accessible and affordable with results available much sooner.
  • Genomic tests, particularly whole exome and whole genome sequencing, are now increasingly used to diagnose patients with Mendelian genetic diseases including syndromal intellectual disability, cardiac disease and cancer.
  • Genomic tests are more recently being used in preventive health. This includes pharmacogenomics testing and testing of healthy individuals for genes that are rare but significantly increase disease risk.
  • Patients’ genomic data will become more accessible in the future and is set to play an increasing role in guiding patient care.