Dr. Phillip Richmond: Using High-Performance Computing to diagnose diseases

Using High-Performance Computing to diagnose diseases

Phillip’s research spans the areas of bioinformatics, genomics, molecular biology, and rare genetic diseases. “I knew I wanted to help people and have a positive impact on patients and their families,” he says. Through his work at the BC Children’s Hospital Research Institute (BCCHR), he is part of a team that helps diagnose rare genetic disorders using precision medicine. Precision medicine focuses on a patient's individual genetics, as well as other technologies which provide a complete picture of patient’s health down to the cellular and molecular level. Using computational approaches, precision health “big data” can be analyzed and integrated, leading to the diagnosis of previously undiagnosed conditions, personalized treatments, and the ability to predict a patient’s future health.

High-performance computing allows the analysis of large-scale datasets in shorter amounts of time – weeks as opposed to years – than has ever before been possible. It is becoming a reality, for example, to analyze genetic data from a mother, father and child, to reach a medical diagnosis in a previously complex pediatric case. The road toward making an impact on someone’s medical journey takes an interdisciplinary team. “In addition to clinicians and researchers, IT teams can play a key role in us going from a blood draw to a diagnosis and in some cases a treatment.”

Phillip is a pioneer for his work with high-performance computing. Along with privacy and security experts at ARC, he is working towards adopting tools like UBC’s ARC Sockeye secure platform to analyze precision health data for patients with undiagnosed genetic diseases. He also manages a small compute cluster at the BC Children’s Hospital, supports researchers and provides training opportunities on how to use high-performance computing. He was an early adopter of UBC’s Sockeye platform in 2019 and is working to make the infrastructure even more seamless for UBC and BCCHR researchers.

Another key component of the Precision Health Initiative is providing training and knowledge translation to support the broader adoption of genomics and precision medicine in the clinical domain. “We provide training to clinicians who are starting to see the genomics reports popping up in patient’s chart and are wondering how they can learn more."