Every person has a unique variation of their DNA, known as the genome. Although most of it is identical for all humans, the small procent of variation gives rise to individuality. It is this individuallity that makes one to respond differently to the environmental stresses, to age and disease.
Modern advances in molecular medicine have allowed sequencing of the DNA. This technology that confirms an individual patient’s fundamental biology at molecular level, allows personalised healthcare. Personalised healthcare is based on the individual deep biological makeup, namely one’s genome and the way it is translated into cellular function. It uses predictive tools to evaluate health risks and to design personalised treatment of disease when it occurs.
Mutations in one or several genes in the genome influence disease expression ranging from cystic fibrosis to cancer. In order for physicians to know if a mutation is connected to a certain disease, research uses “genome-wide association studies” (GWAS). A GWAS study will look at one disease, and then sequence the genome of many patients with that particular disease to look for shared mutations in the genome. Mutations that are determined to be related to a disease by a GWAS study can then be used to diagnose that disease in future patients, by looking at their genome sequence to find that same mutation. GWAS studies have been successful in identifying common genetic variations associated with many diseases.