50 years of newborn screening

Excerpt

Half a century ago Robert Guthrie published his seminal paper on newborn screening for phenylketonuria. Few of us will remember these early years and the difficulties encountered by Bob and his then few followers. The period was wonderfully summarized by him in the journal Screening in 1992 (volume 1, pages 5–15). From the 1960s to the end of the last century newborn screening progressed steadily with some technical advances and consolidated professional structures. Just before the turn of the century, highly sophisticated high-throughput multiple-analytes platforms (ELISAs, tandem MS, DNA, etc.) were developed and adapted for use in newborn screening. Particularly the applications of tandem mass spectrometry, paralleled by advances in molecular medicine, have now brought screening very much to center stage of scientific, medical and ethical issues. The Joint Meeting of the APHL Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening, held in Atlanta, Georgia, USA in May 2013, combined looking back and drawing from the experience of 50 years with a comprehensive coverage of today´s hot topics. This issue of the journal draws on the material presented. …