Next Generation Technologies for BC’s next generation:
Expanding clinical diagnostic testing at BC Children’s Hospital

Written by: Dr. Graham Sinclair

Next generation sequencing (NGS) is a powerful tool for uncovering genetic changes in patients presenting with clinical disease. This innovative technology has application across all practices of pathology and laboratory medicine to improve patient care, including the potential for personalized medicine focused on disease prevention. While Next Generation Sequencing (NGS) of DNA is the main driver of change, a comprehensive diagnostic service requires an integrated system for detection and, in many cases, functional validation of genomic findings at the cellular and biochemical level to confirm diagnoses and monitor response to therapeutic interventions.

In November, a dedicated group of generous donors came together at the BC Children’s Hospital Foundation 33rd Annual Crystal Ball Gala and raised over $3.8 million dollars to support the implementation of next generation technologies in the Department of Pathology and Laboratory Medicine at BC Children’s Hospital. The proposed next-generation technologies will help to realize this vision of genomic medicine for BC’s children.

Next Generation Sequencing

The Division of Genome Diagnostics provides complex genetic and genomic testing for the province, including NGS. These next generation technologies will allow for improved workflows and implementation of genetic disease gene panels and exome testing with the goal of increasing the diagnostic rate and reducing the time to diagnosis for children with likely genetic causes for their health concerns.

Next Generation Mass Spectrometry

The Division of Biochemical Genetics and Newborn Screening provides a range of targeted biochemical testing and newborn screening. The advance of genomic testing is necessitating improvements in the ability to detect and discover new disease markers that will be enabled by the introduction of next generation high-sensitivity and high-resolution instruments. These non-targeted, discovery approaches to biochemical testing will support the functional validation of rare variants, or novel genes identified through next generation sequencing.

Expanded Flow Cytometry Capacity

Flow cytometry is a critical tool for the evaluation of rare genetic hematological disorders including disorders of the immune system, such as immunodeficiencies and immune dysregulation syndromes. Expanding instrument capacity will allow for confirmation of disease in patients initially identified through genomic testing and will support the diagnosis and treatment of pediatric cancers, a field being transformed through genomic testing.