Post-GWAS Strategies

Genome-wide association (GWA) studies are the method of choice for discovering loci associated with common diseases. More than a thousand GWA studies have reported successful identification of statistically significant association signals in human genomes for a variety of complex diseases. In this review, I discuss some of the issues related to the future of GWA studies and their biomedical applications.

Medicina genômica personalizada aqui e agora / Personal genomic medicine here and now

A Medicina Genômica é uma revolução em curso, baseada em testes genéticos que permitem o conhecimento do mapa de predisposições genéticas de cada indivíduo. O uso de técnicas de altíssima eficiência permite estudar simultaneamente variações individuais em centenas de milhares de genes, a custo cada dia mais baixo. O resultado dos testes possibilita praticar o que antes era impossível: uma medicina verdadeiramente personalizada, preditiva, pró-ativa, preventiva e participativa. Conhecendo a intimidade das variações genômicas que determinam predisposições e resistências de cada pessoa, é possível manipular o ambiente (estilo de vida, dieta, adição ou remoção de fármacos, cirurgias preventivas) de forma a manter o equilíbrio harmônico genoma/ ambiente que caracteriza a saúde. A partir do teste monitor genômico, e acesso à Medicina Genômica personalizada já é possível aqui e agora.

Genomic Medicine is a revolution in progress, based on genetic tests that allow the knowledge of each individual's map of genetic predispositions. Using high efficiency techniques allows the study of individual variations simultaneouslv in hundreds of thousands of genes, each day at a lower cost. The tests results make possible what was once impossible: to practice the actually personalized medicine, predictive, pro-active, preventive and participative. Knowing the privacy of genomic variations that determine biases and strengths of each person, you can manipulate the environment (lifestyle, diet, addition or removal of drugs, preventive surgeries) in order to maintain the harmonious balance genome / environment that characterizes the health. From the genomic test monitor, the access to personalized genomic medicine is already possible here and now.

Personal Genomics, Bioinformatics, and Variomics

In 2008 at least five complete genome sequences are available. It is known that there are over 15,000,000 genetic variants, called SNPs, in the dbSNP database. The cost of full genome sequencing in 2009 is claimed to be less than $5000 USD. The genomics era has arrived in 2008. This review introduces technologies, bioinformatics, genomics visions, and variomics projects. Variomics is the study of the total genetic variation in an individual and populations. Research on genetic variation is the most valuable among many genomics research branches. Genomics and variomics projects will change biology and the society so dramatically that biology will become an everyday technology like personal computers and the internet. 'BioRevolution' is the term that can adequately describe this change.

Challenge of Personalized Medicine in the Genomic Era

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the 21st century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.