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Transformation of clinical medicine was one of the long term goals of the Human Genome Project, expected to impact the practice within 10-20 years after the announcement of first draft of human genome. As of 2011 we are just entering into this era and emerging applications of technologies based on genomic research is indicating that Human Genome Project will be able keep its promise. Translational and clinical research to develop new personalized medicine approaches are going strongly; identification of predictive and diagnostic biomarkers is accelerating with the help of high-throughput technologies, and molecular diagnostics and pharmacogenomics is one of the growing markets worldwide with the goal of early detection, prevention, and intervention of diseases and to predict drug efficacy to guide dosing and avoid adverse reactions.
Single Nucleotide Polymorphisms (SNPs) are the most common form of genomic variations and the main genetic reason behind individual phenotypic differences. Also SNP variations are suggested to be the underlying reason of many complex diseases, they are considered as a good candidate for personalized medicine and pharmacogenomics applications. Genome-Wide Association Studies (GWAS) of SNPs are among the promising approaches for the identification of disease causing variants. The high-dimension of the SNP genotyping data presents a challenge for the understanding of the genotype and its possible implications for the etiology of the diseases and also for the identification of the representative SNPs to design the follow up studies for the validation of the associations. One of the bioinformatics tools developed to overcome this challenge is METU-SNP (http://metu.edu.tr/~yesim/metu-snp.htm), which aims to fasten the identification of associations described through GWAS. Today through genomic research and meta-analysis of genotyping experiments we are able to reveal SNP biomarkers associated with disease and drug reactions. Next, translational research has to be conducted in order to develop genomic diagnostics to apply this information into practice in medical clinics. Design of diagnostic assays for the diagnosis and prediction of drug response in psychiatric disorders can especially guide the initial selection of antipsychotics or antidepressants based on the individual genomic information of the patients.
Development of personalized medicine approaches and utilizing genomic diagnostic assays like the examples will be presented in this talk will eliminate or decrease the number of trial-and-errors in selection of right therapy and dosage for the right patient and will also minimize emergency visits due to side effects of the drugs. Also prescription of right medicine and therapy plan at the initial diagnosis will increase trust between the healthcare professionals and the patients, which in return expected to provide higher cooperation and adherance rates of patients to their therapy. Application of pharmacogenomics and personalized medicine approaches in clinical decision making is expected to decrease the cost of healthcare in psychiatry as in other disciplines, while offering higher quality healthcare..