It’s been 13 years since scientists “sequenced” or read the first complete genetic code of a human being. The effort took 13 years and cost about $1 billion.
Today, scientists have sequenced more than 100,000 genomes, as these genetic codes are called, and the price is quickly approaching $1,000. It takes a few days to do a sequence now and only a few weeks to analyze it.
It’s a fire hose of information, but there’s still plenty we don’t know. Scientists can read the code, but they haven’t cataloged all the differences they’ve found. And they aren’t sure how many of those differences cause or prevent disease in individuals.
But what they do know has made it much more likely your genome – and certainly your children’s – will be screened sometime in the near future. It has already created a new medical specialty you’ll be hearing more about, and it’s changing other specialties fast. Really fast. The new specialty is called genomic or “personalized” medicine, and Dr. Eric Green, the director of the National Human Genome Research Institute, gave four examples of its amazing potential in a recent presentation at the HudsonAlpha Institute for Biotechnology in Huntsville.
Scientists now know that cancer “is basically a disease of the genome,” Green said. Normal cells pick up mutations “that make them go out of control and form tumors.” And because scientists can read the genome of a cancer cell as easily as a normal cell, cancer doctors in the not-to-distant future will use genomic profiles of the specific tumors they are fighting to precisely manage the fight.
Medicine today is “remarkably imprecise” in prescribing medication, Green said. But genomic screening is already finding the variations in people known to influence a particular medication’s effectiveness. Patients will soon begin getting medicines more tailored for them.
Green said of 7 percent of all FDA-approved medications today are already linked to genetic variations that influence response to that medication. Those 7 percent of drugs represent 18 percent of all medication prescribed in the U.S. today, he said. “Roughly a fifth of prescriptions in America might benefit from having genomic information,” he said.
3. Diagnosing rare genetic diseases.
Diagnosing rare genetic diseases through genetic sequencing, started in 2011, Green said, and Dr. Howard Jacob of HudsonAlpha actually did the first such diagnosis.
“If you just don’t know what’s going on with your patient, you sequence their genome,” Green said of medicine today. “Don’t take this for granted. This was not obvious before 2011, but this has become now mainstream.”
4. Pregnancy genomics.
Progress in pre-natal DNA sequencing is dramatic, Green said. Fetal DNA can now be obtained for screening without invasive procedures, and more than 1 million of these tests were done in each of the last two years.
Post-natal sequencing now takes 36 hours, Green said, and it is being used increasingly to diagnose diseases in newborns. “You only need to save a few babies’ lives like these to think it’s worth doing,” he said.
Among many challenges going forward, Green mentioned one as key. Scientists know they need new information systems “to help health care professionals deal with the tsunami of capabilities coupled with the tsunami of scientific data … that doesn’t tell them how to practice medicine.”
Sequencing DNA is relatively easy today, Green said. But getting the results to medical professionals quickly, clearly and in a way that respects their roles is a huge challenge. If the flood of new data can’t ultimately be presented on something like an iPhone, it won’t get widespread use.
Green said HudsonAlpha institute will play key roles in these challenges. Dr. Rick Myers, the institute’s chief scientist, worked with Green on the Humane Genome Project, and Dr. Howard Jacob, the institute’s executive vice president for genomic medicine, is also a close adviser. The institute reviews grant applications for Green’s institute and it has received major NIGR grants. It also has its own genomic medicine clinic.
“They’re very innovative here,” Green said. “Considering how they’re quite new – they’re young – that’s pretty impressive. What they are doing here is incredibly relevant.”