New genomic screening and diagnostic technologies are rapidly emerging in prenatal, newborn and paediatric medicine. In partnership with laboratory, clinician and evaluation scientists, we use a range of health services and policy research methods to study the impact of these technologies on families, health care providers, the health care system, and society. Given the rate of expansion and complexity of testing, our work also aims to build sustainable and equitable models of care that optimize access and ensure appropriate use for a growing number of eligible families.