In recent years we've developed amazing new technologies that give us the ability to identify a person's entire genetic code for as little as $1,000 in less than a day.
Yet many wonder exactly what we've gained by mapping the human genome and finding ways to cheaply run these genetic tests. Futuristic promises about how these innovations could transform healthcare raise questions about whether any of that potential will be fulfilled — or if it's mostly hot air.
One key question: Does the ability to sequence a genome do anything for us now?
Absolutely, says Dr. Eric Green, the director of the National Human Genome Research Institute at the National Institutes of Health. Green is involved with the launch of the Precision Medicine Initiative, a national research project that will analyze the genetic information and health data of more than a million people in an effort to eventually figure out which treatments work in each individual.
"For some things, [genomic testing] is incredibly valuable," says Green, who spoke to Business Insider at Smithsonian magazine's "The Future is Here" festival.
Right now, Green says we'd immediately do a genome sequence for two types of patients: those with cancer and those cases known as a diagnostic odyssey, where after seeing all kinds of different doctors and running test after test, they still can't figure out what's wrong.
Sequencing the genome of a tumor might reveal that it's a particular type of cancer that will respond to a specific drug that we already have. "For some cancers, it's really becoming a standard of care," an essential part of treatment, says Green, who added that we will hopefully be able to do that for more types of cancer as we learn more.
"This won't completely put cancer in the rearview mirror," he cautions. But it could make a huge difference.
A diagnostic odyssey case is different. In some cases these patients have struggled to find out what's wrong for decades. Other patients are newborns with only days to live. Green says that we're now at a point where running a genome sequence can figure out what's wrong roughly a quarter to a third of the time, a number that he expects will improve — in some studies of diagnostic odyssey cases, success rates are already higher.
Sometimes figuring out what's wrong reveals real usable information: a treatment strategy that didn't exist before, something that can keep people alive or improve their quality of life. But figuring out that there's a genetic cause to a diagnostic odyssey doesn't mean that we necessarily have a cure. In many cases, a test often reveals a problem for which there is not yet a solution.
We still have a lot to learn about what our genomes mean for our health and even more to learn about how we can use that information to treat disease and improve lives. Green knows this, and he explains that it will take years to really revolutionize our current practices — but the progress that we've made so far is still incredible.
"The technology allows us to get the information, it doesn't mean we have the knowledge about what all those [genetic] differences mean," explains Green. "The science hasn't caught up with the technology."
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