Grant: Operating Grant

In Canada and most developed countries, all infants are tested shortly after birth for signs of certain rare disorders that must be identified and treated before clinical symptoms become apparent. The initial test "screens" infants to find those who might be at risk; those identified to be at risk must have further testing to find out whether they do have the disorder (called "true" positive), do not have the disorder (called "false" positive), or cannot be immediately diagnosed (called "uncertain" positive). Newborn screening (NBS) is performed to find and provide care for "true" positives, but it always affects other families who get "false" or "uncertain" results. In the past, very few conditions were tested for, so the implications of NBS for families and health care providers were limited. In recent years, however, NBS programs have begun to test for a much larger number of conditions. Cystic fibrosis (CF) is one such condition that has recently been added to NBS programs in Alberta, Saskatchewan and Ontario, Canada, and in other places around the world. Very good evidence exists to show that infants with CF will be better off if they are identified as newborns and given the best possible care, but evidence regarding the experience of all families who receive positive screening results, the implications for health care providers and health services, and ways to ensure the best care, is limited. This study will examine NBS for CF in Ontario as a case study to ensure a fulsome assessment of the health service and familial implications of expanded NBS in the Canadian context, and generate evidence to support planning and policy development. We have 3 main objectives: To explore the impact of CF newborn screening on (1) mothers of CF screen positive infants, (2) health care providers (primary care and specialists), and (3) use of health services by CF screen positive infants and their mothers.