Newborn Screening – Health Policies and Implications

Until the last decade, newborn screening (NBS) attracted little policy interest. In recent years, however, that situation has changed dramatically. HPME faculty member Fiona Miller is pursuing research and working with government, parents, and health-care providers to clarify the core policy issues and to help chart future policy directions.

NBS programs have undergone major expansion around the world as a result of technological developments, advocacy from parents and health professionals, and pressure from commercial suppliers. In 2005, for instance, Ontario expanded its NBS blood spot program from 2 to 28 conditions.

At that time, Ontario’s Ministry of Health and Long-Term Care (MOHLTC) struck a standing Advisory Committee on Newborn and Childhood Screening. Miller was invited to join that committee in order to contribute her expert knowledge to the ministry’s shaping of related policies and programs.

Along with several other members of the Advisory Committee and additional researchers, Miller undertook an MOHLTC-funded study that examined the attitudes and practices of consumers, advocates, and health professionals regarding the management of incidental sickle cell carrier results.

Recently, Miller has turned her gaze towards cystic fibrosis NBS. The results of this work, carried out with colleagues at the Hospital for Sick Children and elsewhere at U of T, will illuminate the implications of expanded NBS for all screen-positive families and the capacity of providers to ensure adequate care.