Newborn screening: Reviewing the past, exploring the future

Newborn screening began with the work of Guthrie in the early 1960s. By the end of the decade, PKU newborn screening was present throughout the United States, Canada, Europe, Australasia and Japan. Automation of the mechanics of testing, along with commercial development of sensitive assays to detect congenital hypothroidism, provided the impetus for expanded screening throughout the 1970s and 1980s. Today, screening in developed countries included advanced micro-techniques for a number of the analytes, computerized tracking systems, remote demographic data entry, and voice response systems. Screening results are confirmed through DNA techniques and it is likely that such techniques will be automated for screening use in the near future. New advances are also proceeding in mass spectrometry. On the other hand, developing nations continue to experience major financial, educational, and logistical problems in implementing screening programmes. Nationally, debt and population usually cause implementation problems. Developing programmes are often fragmented and disconnected small programmes exist which may unaware of other programmes within the country. In many cases, screening disorders are included for personal or political reasons rather than for public health reasons. Established and developing screening programmes continue to expand both the benefits and expectations of newborn screening. We must continue to provide international cooperation between developed and developing programmes in order to facilitate improvements in both quality and quantity of newborn screening. Japan has taken a lead role in providing laboratory training to nations seeking assistance. The US is working towards national standards in number of areas. WHO is providing limited support in some developing areas. We must continue to support international efforts to further all aspects of screening in order to provide improved health and outcome for all children.