Title: Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years
Abstract: In their landmark publication, the authors were fundamentally preoccupied with the notion that:“The central idea of early disease detec-tion and treatment is essentially simple. However, the path to its successful achievement (on the one hand, bring-ing to treatment those with previously undetected disease, and, on the other, avoiding harm to those persons not in need of treatment) is far from simple though sometimes it may appear de-ceptively easy.”For this reason, Wilson and Jungner at-tempted to define screening criteria to guide the selection of conditions that would be suitable for screening, based, among other factors, on the capacity to detect the condition at an early stage and the availability of an acceptable treatment (Box 1). They considered these criteria “especially important when case-finding is carried out by a public health agency, where the pitfalls may be more numerous than when screening is performed by a personal physician”.Just as forty years ago, Wilson and Jungner wrote their treatise amidst a great deal of controversy surrounding the early detection of disease, there are now similar debates with respect to genetic screening. A growing number of diseases can now be detected in the pre-clinical stage, and even in the pre-pathological stage, using molecular and non-molecular diagnostic techniques.Large-scale screening for genetic conditions began around the time of the Wilson and Jungner publication. There was newborn screening for inborn errors of metabolism such as phenylketonuria, later followed by prenatal screening for Down syndrome and neural tube defects using ultrasound and biochemical mark-ers. Once individual disease genes started to be identified using novel molecular techniques, pilot screening programmes were established for several rare genetic conditions such as Tay Sachs disease and cystic fibrosis. With the advances in genetic technology, the rate at which new disease genes are being identified is out-pacing the ability of professionals and