Dr. Stuart Turvey
Dr. Stuart Turvey

In 2016, BC Children’s Hospital Research Institute set out to become one of the top pediatric research institutes in North America. To achieve this, BCCHR set out their strategic initiatives to create innovative solutions to some of the biggest health problems. 

The Precision Health Initiative (PHI) is one of three such initiatives along with Digital Health and Healthy at Home. Precision health is an emerging area of great clinical promise in which clinicians provide targeted care based on a child’s individual biological or genetic characteristics or adapt their care to avoid potential adverse effects indicated by their biology.

We spoke with Dr. Stuart Turvey, lead of the PHI, to discuss this initiative and precision health’s role in the future of medicine.

What is your role at BC Children’s? 

In addition to being the precision health lead, I’m also a pediatric immunologist, researcher and a Tier 1 Canada Research Chair in Pediatric Precision Health. As part of my clinical work, I see kids with weak or disordered immune systems who may also have severe infections. I also have a real passion for translational science. Multiple times a year, we have a child come through the hospital doors with a “new” disorder that we haven’t seen before, and that’s where the research lab comes in. We look at their immune system or microbiome to try and define this new immune system disorder and come up with personalized solutions. 

We have these amazing new technologies to examine a specific person right down to the molecular level; we can look at individualized genes, molecules and bacteria. These tools let us diagnose children and select the best treatments for them based on their molecular make up. Based on a child’s particular biology, we can potentially predict and even prevent future health challenges.

What is precision health?

Simply put, precision health is the future of medicine. It will transform the way we care for children at BC Children’s Hospital and beyond. It’s a transformative approach for disease prevention and treatment that promises an individualized, molecular view of health and wellness.

It approaches treatment and diagnosis in a completely different way — what we do for one person, might be very different than what we would do for someone else to treat the same disease. 

The Precision Health Initiative builds on a legacy of expertise here at BC Children’s in cutting-edge genetics and genomics work over the last decade; we have a proud tradition in this space. What we’re striving to do is to make it easier and more efficient to engage and treat patients using the latest technological and multi-omic advances, so everyone can take advantage of precision health. 

How did the Precision Health Initiative get started?

The PHI grew out of several years of strategic planning. Through these planning sessions, three priority domains were identified: Precision Health, Digital Health Research and Healthy at Home. These initiatives are also part of the institute’s larger strategic strategy to become world leaders in these areas with collaboration and coordination with other institutions. 

We’ve been incredibly lucky to have a really engaged advisory committee in place over the past two years, including Dr. Alison Elliott, Dr. Francis Lynn, Dr. Megan Levings, Dr. Caron Strahlendorf, Dr. Stuart Turvey, and Dr. Wyeth Wasserman (with dedicated project management from Russell Bonaguro). Recently, we’ve also added Dr. Phil Richmond to the team as a staff scientist. 

What is the purpose of the PHI?

The purpose of the initiative is to accelerate, simplify and unify the delivery of precision health research at BC Children’s Hospital. Building out from the successful Rare Disease Discovery Hub, the PHI will become a single point of entry and coordination for patient-facing precision health research projects at BC Children’s.

An example of how the PHI will fulfill this purpose is to support precision health-based research training for clinicians at BC Children’s. Genomics technology has begun to outstrip the education pathways for clinicians. Children may have genomic reports included in their charts in the hospital, but clinicians might not be completely confident in their ability to accurately interpret them, because they have not received formal training. Pediatricians can order an x-ray and recognize pneumonia without needing to consult a radiologist, but they might not have skills to recognize genetic problems without some assistance.

The PHI team will work with clinicians to identify patients who could benefit from precision health analysis, connecting from the lab bench to the bedside. Once those patients have been identified, the PHI team will do all the heavy lifting – we’ll go through the ethics approval process, conduct the research and analyze the findings. We’ll do all the hard work for them, so they can focus on caring for their patients.

What are the main priorities of the initiative?

Specifically, the PHI is working to:

  1. Develop an ethics approved and fully supported pathway for undiagnosed patients and their families. This pathway will be guided by clinicians to allow access to research-based, cutting-edge multi-omics technologies to advance care of children at BC Children’s.
  2. Support and share the knowledge with BC Children’s investigators on how to access precision health technologies, expertise, data analysis and resources onsite.
  3. Provide precision health-related education to trainees, staff, researchers and clinicians at BC Children’s.
  4. Coordinate computational solutions to support secure data analysis for precision health technologies across BC Children’s. Large data sets are needed for molecular and genetic analysis. Rather than each group getting their own IT solutions, it makes sense to work together to create the storage capacity for this information and ensure that the data is kept secure.
What role does technology play?

Throughout the history of health care, technology has always been a big driver of change. X-rays, for example, allowed clinicians to see a patient’s bones and detect pneumonia in their lungs for the first time, completely transforming care.

Similarly, the ability to look at individual molecules and genes as quickly as we can now is changing the way we diagnose and treat patients. We used to be able to reliably look at only one gene, and there was a certain element of luck involved in determining the source of the patient’s symptoms. Now, in a matter of hours, we can look at the entire genome, vastly increasing our ability to correctly diagnose a patient and remove a great deal of guesswork. 

But technological advancements are not without challenges — precision health technologies often come with big data challenges, including ballooning amounts of data for each individual that needs to be stored securely, as well as the need to learn new ways of analyzing that data. The PHI relies upon high-performance computational servers to process these large datasets and extract the relevant findings. 

We have partnered with the research institute’s IT team and UBC ARC (Advanced Research Computing) to better support researchers at BC Children’s in acquiring or accessing the infrastructure they need. 

Are there similar initiatives happening elsewhere?

Yes, there are other children’s hospitals that are also launching similar initiatives, and we are partnering and collaborating with them. We plan to take advantage of worldwide networks and global expertise to tap into the best possible practices and technologies. Knowledge-sharing is a big part of precision health. 

What do you imagine for the future of precision health?

The PHI team will be working with the Child Health Integrative Partnership Strategy Committee (CHIPS) and the BC Children’s Hospital Foundation to expand the PHI — it will grow from the Rare Disease Discovery Hub, which is the patient-facing centre of this initiative. Additionally, the PHI will act as foundation for future investments in emerging precision health technology and expertise to layer into an existing structure.

By harnessing emerging technologies that allow us to understand health and disease at the level of genes and molecules, we will redefine our approach to child health. We will make diagnoses for children with previously undiagnosed conditions; we will select the best treatments based on a child’s genetic makeup; and guided by the child’s biology, we will predict and prevent future health challenges.