Precision medicine and patient engagement go hand in hand.
San Diego-based Rady Children’s Institute for Genomic Medicine, a division of Rady Children’s Hospital, works to pair the two concepts to help critically ill babies and children. Through its Rapid Precision Medicine program, researchers at the Institute use rapid whole-genome sequencing to quickly and accurately diagnose young patients as early as possible.
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In a recent phone interview, Dr. Stephen Kingsmore, the Institute’s president and CEO, discussed this approach. He will be speaking at MedCity’s upcoming ENGAGE conference in San Diego.
This exchange has been lightly edited.
You set the Guinness World Record for the fastest genetic diagnosis. Could you discuss that designation and experience?
This has been a quest that’s an ongoing one where we believe that physicians need a genome-based diagnosis in acutely ill babies and infants as fast as possible. This is not an area that other people have focused on as much.
The typical turnaround time is between six weeks and three to six months. It works OK in the research environment, but not if you’re trying to influence outcomes. Currently, our record sits at 26 hours.
We are reworking this Guinness World Record so we can receive same day results. What we’re finding with that is that the numbers are fairly extraordinary. The proportion of children that get a genetic diagnosis is about 30 percent, or 3 in 10. What we’re finding is that over 80 percent of those that we make a diagnosis in, that diagnosis changes the medical treatment that that baby or child has.
How does patient engagement tie into what you do at Rady Children’s Institute for Genomic Medicine?
Engagement is actually one of the three pillars of the Institute.
The first is engineering our processes so we can deliver this fastest for testing. Second, we need to build an evidence base for what we do. It’s our goal to have children’s hospitals all over the world do what we do. The third part is engagement and education.
We are providing a new type of medical service, and we need to be responsible to parents and actively engage them.
We also engage parent communities as much as we can across our referral base. I spend about 30 percent of my time talking to various stakeholder groups, community groups, and involving all kinds of media to spread this gospel.
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How is the Institute teaching other hospitals how to deploy this approach?
We’re doing this in two different ways.
Directly, what we’re doing is our team goes out and visits other children’s hospitals, tells them what we’re doing and asks if we can partner with them. It’s a lengthy process. In the next year, we’ll be live in between 10 and 15 other children’s hospitals in North America. We’re currently live in Children’s Minnesota and Children’s Hospital of Orange County.
The more indirect approach is very similar to education and engagement with parents, except we’re doing it with MDs in mind. We’re going to national and international meetings and talking about what we do.
What are a few recent projects or partnerships that the Institute has going on?
As an organization, we have saturated the need in our own local neonatal intensive care unit. We’re replicating that around the country. Children’s Hospital of Orange County and Children’s Minnesota are live, and we receive samples from them on a weekly basis.
In terms of the actual technologies, they continue to evolve very rapidly. We’re fortunate that Illumina is located only 15 miles away from our hospital and institute. We’re able to have an active collaboration with them and beta test new technologies.
What are a few of Rady Children’s Institute for Genomic Medicine’s goals for the future of precision medicine?
Our vision is to implement a new way of practicing medicine for children who have genetic diseases. Our major focus will continue to be on babies and the perinatal period. Our vision really is to make genomic analysis be fully integrated into healthcare delivery for these children at organizations such as ours. We are prototyping this strategy in San Diego County, but it’s our vision to have it become normative through North America and throughout the world.
We also hope to more clearly define the benefits of precision medicine. There are two areas that we’re focused on. First, it’s our goal to have parents get a prompt diagnosis if their child has a genetic disease. The second is childhood cancer. Brain cancer is the leading cause of childhood cancer death. Pediatric brain cancers are very aggressive and have mortality rates of 80 percent. We really need to understand the tumor genome within two weeks of the child having brain surgery. We’ll be working with partner children’s hospitals to fulfill that evidence base.
Photo: ismagilov, Getty Images
