Karla Jane Lister

Learn More
Newborn bloodspot screening has been operating successfully in Australia for almost 50 years. Recently, the development of new technologies and treatments has led to calls for the addition of new conditions to the screening programs. Internationally, it is recognized by governments that national policies for newborn screening should support transparent and(More)
PURPOSE Newborn bloodspot screening (NBS) programs have expanded significantly in the past years and are expected to expand further with the emergence of genetic technologies. Historically, NBS expansion has often occurred following ad hoc consideration of conditions, instead of a structured and transparent approach. In this review, we explore issues(More)
BACKGROUND The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today. METHODS The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group(More)
BACKGROUND Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of(More)
  • 1