At Valley Children’s Hospital, Jeremy Woods is digging into a patient’s genes and developing databases that uncover how diseases are created. “We’re no longer thinking one treatment per disease state,” he says.
Genetic testing is a relatively new and exciting concept in healthcare, giving doctors an intricate look at how diseases are created. And Jeremy Woods, MD, is developing rapid genetic tests and building databases that are changing how children are diagnosed and treated.
“We’re using data to get the patient’s best diagnosis and treatment based on their individual biology,” says the director of precision medicine at Valley Children’s Hospital in Madera, California. “We’re no longer thinking one treatment per disease state. We’re … getting real answers and providing precise treatments.”
Woods, who worked at UCLA Health before coming to Valley Children’s in 2020, is at the forefront of an innovative time in healthcare, with new and improved technology and strategies that are allowing researchers to get at the roots of disease diagnosis and treatment. Genetic testing and DNA analysis on newborns, for example, could help doctors identify and treat diseases early, saving millions of dollars in downhill healthcare costs and improving clinical outcomes—perhaps even curing patients.
Valley Children’s is part of Project Baby Bear, a consortium of California children’s hospitals launched in 2018 and funded by the state of California to develop rapid whole genome sequencing (rWGS) for ICU infants. In the first 18 months of the program, the genetic codes of 178 critically ill babies at five hospitals were sequenced, with some 43% receiving a diagnosis of their condition within three days and about a third receiving changes in treatment.
“This was a watershed moment in genomic medicine,” says Woods. “There are more than 3 billion pieces of information in the human genome, and it used to cost millions [of dollars] to sequence it. Now it costs about $200 and we can [provide results] in about a week, sometimes a day. The rate of innovation over the past three to five years has been stupendous.”
Jeremy Woods, MD, director of precision medicine, Valley Children's Hospital. Photo courtesy Valley Children's.
Woods says he treats about 2,000 patients per year, many with rare diseases.
“I deal with a disease that I had probably never heard of every day,” he says. “There are so many genetic variants that we don’t understand properly. That’s why collecting and analyzing all this data is important.”
And that has produced results. Using a database of genetic sequences that he developed, Woods was able to identify a rare genetic disorder, called Zellweger Syndrome, and trace its roots back to indigenous farmers from central Mexico. Although currently uncurable, Woods and his colleagues were able to send detailed information back to OB-GYNs in Mexico so that they could begin early screening to catch and treat the condition more quickly.
While this is an example of how data can be analyzed to produce meaningful, value-based outcomes, Woods says there’s not enough analyzing being done right now. Health systems need the technology, including AI, to take all that data coming in and curate it. And they need EHR platforms that can integrate that data.
“Many people [undergo genetic screening] and get their results in a PDF, which they forget about,” Woods says. “That’s why it’s so important” that the data is embedded into the EHR, where it can prompt doctors to take a closer look and have discussion with their patients.”
With that data, he says, healthcare providers can also identify populations that exhibit a prevalence of a specific disorder, then design community outreach programs that support screening, identification, and early treatment. And it can be used by genetic counselors to support—or rule out—expensive lab tests and new treatments.
On another level, Woods sees the continued development of pharmacogenomics, or programs that study how a person’s genetic makeup reacts to medications. This, in turn, would help the pharma industry develop more effective medications, while giving clinicians more insight into what drugs will and won’t work for specific patients.
Woods says support for precision medicine and genetic testing is slowly gaining steam. Payers, including some Medicare and Medicaid programs, are now covering genetic testing when it’s recommended by a patient’s doctor. And the technology will someday be refined so that genetic tests can be sequenced at the patient’s bedside, in less than an hour, and inputted directly into the EHR.
Precision medicine “is still a somewhat nebulous concept,” he says. “The biggest challenge right now might be education.”
“The rate of innovation over the past three to five years has been stupendous.”
— Jeremy Woods, MD, director of precision medicine, Valley Children's Hospital
Eric Wicklund is the associate content manager and senior editor for Innovation, Technology, and Pharma for HealthLeaders.
KEY TAKEAWAYS
Improved technology is enabling doctors to diagnose patients on a molecular level, uncovering where diseases start in the genes and mapping out how they can be treated.
Pediatric hospitals are leading the way with precision medicine, helping doctors uncover rare diseases in young patients and leading to better treatments and improved outcomes.
Genetic testing can also help health systems identify populations at a higher risk of developing a disease and tailor public outreach and screening programs.