Genomics? Yeah, maybe you've heard of it. But what is it, exactly? Well.... maybe you're not so sure.
That's excusable; after all, genomics is a fairly new research field. But it is worth getting to know, because it's changing how we approach health and medicine in a big way.
As the World Health Organization defines it, genomics is the study of genes and how they function. When applied to medicine, genomics is being used to identify how our genes relate to human development. That includes "every genetic element that has an impact on disease, your health, longevity, and even behavior," says Dr. Edison Liu, an oncologist and the president and CEO of The Jackson Laboratory. "Genomics provides the personalized blueprint of your entire genetic make-up."
In other words, this emerging field is providing some of the most personalized and effective medical treatments in human history.
Genomic medicine really started with The Human Genome Project, which set out to map all the genes in the human genome. Our DNA is made of four chemical bases; human genes are different lengths and combinations of those bases. Using that information, plus a rudimentary template taken from fruit fly research, scientists started deciphering the human genome in 1995. By April 2003, the map of our 20,500 genes was complete.
That map was a goldmine for medical research. For the first time, medical researchers had a detailed set of instructions for creating a healthy human being. They could locate and identify diseases at a genetic level, and then design specific treatments to eliminate them without affecting anything else inside a patient's body.
"We can use new innovations in genetic testing to more precisely predict, diagnose, and treat conditions in individual patients, instead of having to settle for a one-size-fits-all approach," explains AMA President Dr. Andrew W. Gurman.
That means fewer drugs, and fewer surgeries.
Genomics "is already delivering precision treatments to the clinic with remarkable speed," says Liu. One of the most successful examples is newborn screening, which uses blood, hearing, and other tests to identify chronic and potentially life threatening diseases in babies up to two weeks old. Genomic testing speeds this process up and increases its efficiency, letting doctors identify and treat more of those diseases than ever before with greater accuracy.
Researchers can also use genomics to target and treat rare genetic disorders which, according to the CDC, affect about 25 million people in the United States. Most of those diseases — like Angelman's Syndrome, Fragile X syndrome, Duchenne Muscular Dystrophy, and FAM Hypercholesterolemia — are rooted in our genes. Genomics offers potential solutions to conditions that before could only partially be managed by medication.
And the way we treat cancer is changing, too.
Genomics can be used to detect, identify, and treat cancers more quickly and effectively than chemotherapy and radiation, and with far less stress and recovery time for the patient. "The entire area of personalized cancer vaccines now has a new lease on life because of new genomics capabilities," says Dr. Pramod Srivastava, a researcher at UConn Health studying ways to create a personalized ovarian cancer vaccine. "Previous personalized cancer vaccines acted on faith; with genomics, we can actually know how each patient's vaccine is unique. It is a remarkable transformation of the whole field of cancer immunology and immunotherapy."
But as with many great innovations, there are limitations. "The lag between the field of genomics and its application within the healthcare industry has become a significant challenge," says Walter Nakonechny, associate program director of genomic education at Jackson Laboratory. In other words, our healthcare system can't quite keep up with all these new advancements.
Similarly, keeping our medical practitioners in the know is tough. "Medical professionals have such a tremendously taxing job," Nakonechny says. "They must see patients nonstop all day and they must keep up with the latest in the medical literature. Very few have the time to wade through the flood of information that pours out of the field of medical genomics."
But we're working to make it easier for them. Jackson Laboratory, for example, has conferences and symposiums that distil the most important aspects of genomic research into digestible information medical professionals can use in their practices almost immediately.
Perhaps more important than bringing doctors up to speed in genomics is training our future doctors at the outset. "We're trying to educate the public while the field is changing so quickly," Nakonechny says. "If you blink, six months later it'll change. It's very difficult to keep up with that pace. That means we have to start unpacking the material at a fairly early age."
The Jackson Research Lab has already formed a consortium of seven schools that offer introductory genomics programs for 10th and 11th graders. The program trains teachers — from public, private, urban, and rural schools, and even community colleges — in genomics and gives them hands-on resources for their classes.
While all of these advancements and outreach in genomics are changing the future of medicine, they're not foolproof. "Despite the many scientific advances in genetics, researchers have only identified a small fraction of the genetic component of most diseases," according to the CDC. That means that while genomics is still a more effective diagnostic and treatment tool, it's not perfect. But the field is advancing every day. Given how quickly it's evolving and how much researchers are learning, genomics may form the backbone of how we treat all disease in as little as 20 years.