Original Article

Journal of Community Genetics

, Volume 4, Issue 1, pp 59-67

Open Access This content is freely available online to anyone, anywhere at any time.

Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening

  • John FormanAffiliated withNew Zealand Organisation for Rare Disorders (NZORD) Email author 
  • , Fiona CoyleAffiliated withNew Zealand Organisation for Rare Disorders (NZORD)
  • , Jill Levy-FischAffiliated withSave Babies Through Screening Foundation
  • , Pat RobertsAffiliated withSave Babies Through Screening Foundation, UK
  • , Sharon TerryAffiliated withGenetic Alliance INC
  • , Michael LeggeAffiliated withDepartment of Biochemistry, University of Otago


Newborn metabolic screening is the most widespread application of screening technology and provides the most comprehensive application of genetics in health services, where the Guthrie blood spot cards allow screening for metabolic diseases in close to 100 % of all newborn babies. Despite over 40 years of use and significant benefits to well in excess of 100,000 children worldwide, there is remarkably little consensus in what conditions should be screened for and response to new advances in medicine relating to programme expansion. In this article, the international criteria for newborn metabolic screening are considered, and we propose that these criteria are poorly developed in relation to the baby, its family and society as a whole. Additionally, the ethical issues that should inform the application of screening criteria are often not developed to a level where a consensus might easily be achieved. We also consider that when family interests are factored in to the decision-making process, they have a significant influence in determining the list of diseases in the panel, with countries or states incorporating family and societal values being the most responsive. Based on our analysis, we propose that decision criteria for metabolic screening in the newborn period should be adapted to specifically include parent and family interests, community values, patients’ rights, duties of government and healthcare providers, and ethical arguments for action in the face of uncertainty.


Newborn metabolic screening Decision criteria Family interests