By analyzing your genes, doctors can identify certain drugs that may be dangerous or completely ineffective for you, and they can calculate personalized dosages that match your DNA. Image courtesy of Jane Ades, NHGRI.

NIH research is working hard to solve the puzzle of how genes and lifestyle connect to affect our lives and our health. Today, researchers can scan and compare entire genomes very quickly. These studies have already turned up disease signatures for type 2 diabetes, heart disorders, prostate cancer, Crohns disease, Parkinsons disease, and age-related macular degeneration. More disease-related gene variants are identified every few months.

The Human Genome Project and thousands of follow-on studies are helping scientists to develop gene-targeted treatments. A poignant example is the case of a woman with lung cancer that had spread to her brain. Diagnosed in 2002, this 44-year-olda vegetarian who had never smokedunderwent various therapies to stave off what seemed inevitable. Then came a miracle: she learned of a clinical trial testing a new drug, getfitinib, that for some tumors appeared to work as a genetic smart weapon. Her tumor was one of those, and she is alive today because of medical research.

Thanks to NIH-funded basic research that gave us genetic engineering and launched the $40 billion biotech industry, DNA is a household name. Virtually every biomedical research lab and pharmaceutical company throughout the world uses the power of the genomic revolution every day to demystify diseases and find new cures. Within 5 years, the complete DNA instruction bookor whole genomeof an individual will read out for less than $1,000, making genetic analysis a routine part of medical care.

These colored bands on a computer screen represent the various building blocks of DNA that make up just a small portion of the human genome.

One recent study provides a glimpse of how whole-genome sequencing might eventually be used in the clinic. Scientists evaluated the entire genome of a 40-year-old man to determine his risk for dozens of diseases and his likely response to common drugs. They pinpointed gene variants linked to several diseases in the mans family, including vascular disease and early sudden death. They also found variants linked to conditions not known to be in his family, such as thyroid and parathyroid diseases. Other gene variants predicted the patients likely responses to certain heart medicationsinformation thats especially relevant since hes at risk for cardiovascular disorders.

Remarkable advances in the field of pharmacogenomicshow individuals react differently to medicinesindicate that we are moving away from one-size-fits-all medicine. Scientists can now identify glitches in our DNA scripts that reveal what drugs may be dangerousor completely ineffectivefor certain people. This information will help doctors calculate precise dosages that match a persons DNA.

Collectively, research results in this important area of biomedicine are prompting the U.S. Food and Drug Administration (FDA) to consider changing the labeling requirements for important medicines taken by millions of Americans. Already, pharmacogenomic information is contained in about 10% of labels for drugs approved by the FDA to treat a range of conditions including HIV/AIDS, cancer, seizures, and cardiovascular disorders.

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Personalized Medicine - National Institutes of Health (NIH)

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