24 July 2019

Fixing the present, building for the future: newborn screening for rare conditions

Fixing the present, building for the future: newborn screening for rare conditions
Genetic Alliance 24 July 2019
  • This report presents the evidence around newborn bloodspot screening and gives views of people living with rare and genetic diseases. It contains recommendations to adapt decision-making to fit rare diseases, to embrace the potential of screening as a rare disease identification system, and to take advantage of developments in technology.