Steve Sturdy » Risk and utility in the governance of diagnostic testing: the case of genetic screening, 1960 to the present
Routine collection of blood samples from neonates – often using so-called Guthrie cards (pictured) – began in the 1960s when a number of North American and European countries set up screening programmes for phenylketonuria, a rare single-gene disorder which leads to developmental delays and early death if untreated. Such programmes have since been introduced in many other countries around the world. At the same time, refinements in laboratory technology – especially the development of tandem mass spectrometry from the early 1990s, followed by the inception of increasingly powerful new genomic technologies – have made it possible to detect a growing range of disorders from the same blood samples. These proliferating possibilities have been accompanied by often intense discussion about just what diseases should be included in newborn screening programmes.