Hilary Vallance

FRCPC, FCCMG, MD

Investigator, BC Children's Hospital
Director, Provincial Newborn Screening Program, BC Children's Hospital

The purpose of newborn blood spot screening is to identify babies with treatable conditions at birth. With early detection and treatment, serious health problems can be prevented. The BC Newborn Screening Program evaluates new candidate conditions for the test panel as new tests and treatments are developed.

Our research group identified a variant in a gene related to the harnessing of energy from fatty acids called the "CPT1 variant". The variant is common in BC First Nations as well as other Indigenous populations in Canada and Alaska. Individuals who have two copies of the CPT I variant have reduced, but not deficient, CPT I enzyme activity. The vast majority of babies with the CPT I variant are healthy and the high prevalence of the variant suggests a survival advantage on traditional diets. However, it is possible the CPT I variant may lead to low blood sugar in some children during long periods of fasting especially when fasting occurs during inter-current illness (fever, vomiting or diarrhea). In collaboration with FNHA and ChildhealthBC, knowledge translation strategies are under development for FN communities and health care providers.