SNPsHuman Genetic Variation Lead to New Medical Practices

Now that we’ve sequenced the human genome, what’s next? Among the many promises of the Human Genome Project is the possibility of understanding the significance of DNA variations among individuals. Are these variations simply the cumulative result of eons of polymerase mistakes or radiation damage, or does this variation offer the human race the diversity which assures its long-term survival? By comparing such variations, known as single nucleotide polymorphisms or SNPs (see box), in patient and control populations, medical researchers hope to identify genetic differences that predispose some but not others to diseases. Moreover, in the emerging field of pharmacogenetics, researchers are also studying genetic differences as a tool to predict the variability in individual responses to treatment. In turn, this knowledge is expected to enhance understanding of disease processes and facilitate discovery, development, and delivery of safer and more effective treatments, and along with these new treatments, a new generation of diagnostics is emerging.Ultimately, SNP technology may lead to the development of personalized medicine, in which disease prevention strategies and treatments are more closely tailored to an individual’s genetic profile.