• Godfrey GrechEmail author
  • Iris Grossman
Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 9)


Genetics evolved rapidly in the past decade, characterising genes that directly cause specific traits in monogenic diseases, as well as modifier genes that are associated with specific disorders but are not sufficient for causality, rather work in concert with additional gene and environmental factors to elicit the disease, mostly referred to as susceptibility genes. The science has also evolved from bench and lab discoveries to bedside implementations and further gathered momentum as knowledge acquired about allele and genotype frequencies in specific populations (via epidemiological studies) resulting in effective genetic disease prevention programmes. In parallel, numerous polymorphisms have by now been characterised and often formulated into drug labels, which play a role in the pharmacokinetics and pharmacodynamics of available therapeutics, predicting the efficacy of drugs in patients, and minimising the occurrence of drug adverse reactions.


Amyotrophic Lateral Sclerosis Adverse Drug Reaction Familial Adenomatous Polyposis Genomic Medicine Maple Syrup Urine Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Department of Pathology, Faculty of Medicine and SurgeryUniversity of MaltaMsidaMalta
  2. 2.IsraGeneYakirIsrael
  3. 3.Personalized Medicine & PharmacogenomicsTeva Pharmaceutical IndustriesNetanyaIsrael

Personalised recommendations