Preventive and Predictive Genetics: Towards Personalised Medicine

Traditionally, medical research comprised of the identification of the pathological causes of a disease, its epidemiology and empirical investigation of treatment response. Intensive genetic research, marked by the completion of the human genome project in 2003, heralded a new era in medical research. While epidemiology and gross pathology are still mainstay useful tools, genetics and genomics have gradually been shown to increase the resolution of drug response research, showing great potential in also informing and identifying the role of genes and their encoded products in the pathophysiology of diseases. This information is already being applied in the prevention of illness, effective early diagnosis, better risk assessment (prognosis), as well as targeted effective and safe treatment allocation (prediction and monitoring).

Genetic testing and genomics support personalised medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalised medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data. Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.