Reshaping criteria for screening in the age of genomics - contemporary history and users perspective

Background

A project funded by the Netherlands Genomics Initiative (NGI), as a joint initiative of the Centre for Medical Systems Biology (prof. GJ van Ommen, Leiden)  and the Centre for Society and Genomics (prof. H. Zwart, Nijmegen).
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 For screening in general (Wilson and Jungner, WHO, 1968) and genetic screening more specifically, lists of criteria have been developed that have to be met before implementation can take place. Sets of criteria like these serve to find our way through the complex reality of guidelines and procedures, laws and regulations, moral notions and experiences that has evolved around screening in general and genetic screening in particular.

For phenylketonuria (PKU) e.g. we have decided to start newborn screening in 1974 in the Netherlands. Two diseases were added to the newborn screening since, but sickle cell anemia is not in the Dutch screening package for newborns, unlike many states in the USA and some European regions or hospitals (including Academic Medical Centre Amsterdam). For antenatal screening, in the Netherlands only maternal age and family history have been accepted as screening criteria for Down syndrome so far, and triple test or ultrasound markers so far have been not been implemented in regular health care. In the age of Genomics, new decisions about the do´s and don´ts of screening lay ahead of us. This relates to screening of the newborn, preconception screening, antenatal screening and screening later in life. The goals of screening include prevention (e.g. genetic risk for cardiovascular disease and diabetes mellitus), treatment (e.g. newborn screening for MCADD=medium chain acyl Co-A dehydrogenase deficiency, Cystic Fibrosis) as well as reproductive options (e.g. antenatal screening).

All potential uses for screening need to be evaluated against criteria before tests can be offered at a large scale according to the Population Screening Act (Wet Bevolkingsonderzoek). This law protects the physical and mental health of the Dutch population against the possible dangers of screening activities. Thereby, certain screening programs, determined by the scope of the Act, are subject to licensing before they can be implemented. Licenses will be granted only on the condition that the benefits of the proposed screening outweigh the risks for those involved, and that it will be implemented correctly and expertly. The Health Council of the Netherlands also formulated criteria specifically applied to genetic screening to ensure systematic assessment of screening programs before they are introduced into the community.