Primary immunodeficiency diseases (PIDs) are a group of genetic disorders in which parts of the immune system are missing or dysfunctional. PIDs interfere with essential protective immune functions, greatly enhancing susceptibility to infections, autoimmunity, inflammation, and certain malignancies, affecting 1 in 2000-10,000 people.
The Primary Immunodeficiency Discovery Hub (PIDH) at BC Children’s Hospital was established to address many challenges faced by people living with undiagnosed PIDs. This project aimed to identify 15-20 patients within the PIDH to undergo genetic testing to identify a variant responsible for the underlying PID. Upon completion of testing a causative genetic variant was successfully identified in 15 patients resulting in a change to treatment, directed to their disease and ultimately leading to improved outcomes for those individuals and families.
The PIDH, which also provides education and training, has been so successful it has expanded to support children in other parts of the world. It is an example of the value of adopting genomics and precision medicine to the BC health system.