This Sunday, the National Institutes of Health will celebrate the 10th anniversary of the completion of the Human Genome Project. Since the end of the 13-year and $3-billion effort to determine the sequence of a human genome (a mosaic of genomes from several people in this case), there have been some impressive advances in technology and biological understanding and the dawn of a new branch of medicine: medical genomics
Today, sequencing a human genome can cost less than $5,000 and take only a day or two. This means genome analysis is now in the cost range of a sophisticated medical test, said Eric Green, director of the National Human Genome Research Institute, in a teleconference on Friday. Doctors can now using DNA analysis to diagnose challenging cases, such as mysterious neurodevelopmental disorders, mitochondrial disease, or other disease or unknown origin in children (see “Making Genome Sequencing Part of Clinical Care”). In such cases, genomic analysis can identify disease-causing mutations 19 percent to 33 percent of the time, according to a recent analysis.
Genomics is possibly making its biggest strides in cancer medicine. Doctors can now sequence a patient’s tumor to identify the best treatments. Specific drug targets may be found in as many as 70 percent of tumors (see “Foundation Medicine: Personalizing Cancer Drugs” and “Cancer Genomics”). The dropping price of DNA sequencing is also changing prenatal care. A pregnant woman now has the option to eschew amniocenteses or other invasive methods for checking for chromosome aberrations in her fetus. Instead, she can get a simple blood draw (see “A Brave New World of Prenatal DNA Sequencing”).
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