Genomics is the study of the human genome, genetic mapping and DNA sequencing. Sounds like the stuff of science fiction, or maybe a really boring party conversation, but either way, genomics is something you should care about. It's a science that's rapidly revolutionizing medical care.
Here are five ways genomics is changing the future of medicine and why it should be important to you.
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The human genome is stunning for its sheer complexity. Each of us has 23 chromosomes for a total of about 3 billion DNA base pairs. You inherit a chromosome from each of your parents, so double that to 6 billion.
Between 3 million and 5 million of your base pairs differ from those of the person sitting next to you, said Dr. Eric Green, the director of the National Human Genome Research Institute. These genetic variations represent only a small corner of the human genome but reveal a lot of information about your health, both now and in the future, he said.
Technology has made genetic sequencing a relatively cheap and speedy process. The Human Genome Project, which was the first successful attempt to sequence the full human genome, cost more than a billion dollars and took more than a decade to complete. Now for less than $5,000, a full gene sequence can be decoded in five days or less, Green said. By the end of the year, he expects advances in technology will allow scientists to sequence an entire gene in less than 24 hours.
Genomics is already used in clinical settings to help diagnose and treat diseases from cradle to grave. In children, it helps diagnose developmental delays, intellectual disabilities, autism spectrum disorder and birth defects, to name a few. Early and accurate diagnosis allows physicians to target medical care and provide families with important information about genetic risks for siblings.
In adults, genomics help fight cancer. Angelina Jolie highlighted this fact when she tested positive for a BRCA gene mutation that is strongly associated with a risk of developing breast cancer. After factoring this information in with a strong family history of breast cancer, the actress chose to undergo a pre-emptive double mastectomy.
For those who already have cancer, Green said that it was now possible to sequence the genome of a tumor, identify the genetic variants that are the likely cause of the disease and personalize treatment.
We all respond differently to medications. Sometimes they work well, sometimes they don't work at all and sometimes they make one sicker. Green said that how a person metabolizes a drug is determined by genetic factors. Physicians can use this information to design highly individual drug regimens.
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