What began in 1966 with screening for a single disease, the metabolic disorder phenylketonuria, is now a 50-year-long success story: the Austrian newborn screening programme for early detection of congenital diseases in babies conducted at MedUni Vienna's Department of Pediatrics and Adolescent Medicine. Around 88,000 children are born in Austria every year and are all screened free of charge for congenital diseases, which, if left untreated, could lead to serious organ damage, although they are easy to treat if detected early. Every year this enables around 100 children to live a normal or well adapted life. The screening programme currently covers 28 diseases and SCID (severe combined immunodeficiency) is soon to be added to this list.
SCID patients start to suffer very early on from what are, in some cases, very serious infections, especially of the respiratory tract and the gastrointestinal tract, right through to sepsis. Typical infections are those that simultaneously involve several pathogens, of the type which would not cause any symptoms in people with a healthy immune system. In future, it will be possible to detect this disease along with the 28 other diseases by means of a small blood sample – taken by pricking the heel of the newborn – and to treat it at an early stage. The other diseases include e.g. cystic fibrosis, congenital hypothyroidism, serious metabolic disorders.
"SCID, other diseases not yet included in the screening programme and technical innovations in early detection" are the focus of the second day of the 25th Annual Conference of the German Society for Newborn Screening (DGNS), which will be held in Vienna for the first time on 15 and 16 June, under the local supervision of Vassiliki Konstantopoulou and Maximilian Zeyda from MedUni Vienna. For information: www.dgnsvienna2018.at
Test does not equate to a medical diagnosis
If the blood analysis produces a positive result, the parents or referring physicians are immediately notified about the suspected illness, in order to determine the clinical condition of the child and to initiate further tests to provide a diagnosis and refer the child to hospital for appropriate care. "The initial result of a newborn screening test is not a medical diagnosis," explains Susanne Greber-Platzer of MedUni Vienna's Department of Pediatrics and Adolescent Medicine. "It is a starting point for accurate diagnosis and initiation of state-of-the-art treatment."
All of these diseases are congenital and are incurable – however, early treatment can prevent or at least minimise the effects and consequences and considerably enhance quality-of-life for those affected. It is expected that new biomolecular techniques will lead to further expansion of the screening programme to include even more diseases.
An example of precision medicine
Newborn screening and subsequent treatment of the babies are a prime example of precision medicine or "personalised medicine", the major trend in 21st-century medicine. The right treatment at the right time for the right patient. Consequently, in order to boost this area of research, the Medical University of Vienna is planning to build the Center for Precision Medicine on the Vienna General Hospital MedUni Campus from 2022 onwards. The Center is being financed by sponsors and private donors. In order to achieve this goal, MedUni Vienna launched various fundraising activities in 2017, both to raise awareness of precision medicine and also to generate a flow of donations to fund the planned centre. For information & to donate: www.zpm.at.