Global approaches to the prevention, diagnosis and treatment of disease have shifted towards personalised health care. For patient-centred practice, the genetic profiles of patients need to be considered alongside environmental exposures.

Learning objectives

After reading this article, pharmacists should be able to:

  • Define the fundamental requirements of a genetic test when choosing and implementing a genetic testing service
  • Describe what information about a gene test should be included to meet ‘informed consent’
  • Discuss how gene test results may be used to make treatment decisions for the individual, including use of decision support systems
  • Identify issues that may affect the success of a gene testing service.

Competencies (2016) addressed: 1.1, 1.2, 1.3, 1.4, 1.5, 2.1, 3.1, 3.2, 3.4, 3.5.

Health care of this kind is now termed ‘precision medicine’ which, according to the US National Institutes of Health (NIH) that runs the US Precision Medicine Initiative, is ‘an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.’1

Pharmacogenomics is the study of inter-individual differences in the efficacy and side effects of medicines due to genetic factors. It is a central component of precision medicine.1,2 The use of pharmacogenomics information to personalise medicine selection and dosing is now entering the clinical setting here and overseas. For example, in US centres such as the Mayo Clinic, St. Jude Children’s Research Hospital and Mount Sinai Medical Centre, clinical guidelines and treatment regimens that take into consideration the genetic profile of the patient are producing documented improvements in patient outcomes.3 In the Netherlands, the Dutch Pharmacogenetics Working Group (DPWG), founded by the Royal Dutch Pharmacists’ Association, has now reviewed gene-drug pairs for at least 86 medicines, of which 47 medicines have therapeutic recommendations based on genetic variability.2

Test your knowledge on this article’s assessment questions here to earn up to 1.5 Group 2 CPD credits.