September 5, 2020 8:30 - 10:00
Screening test is an exam that can identify an unrecognized disease in an apparently healthy and asymptomatic population. The most important screening tests are made on every newborn for certain metabolic, harmful or potentially fatal disorders that aren't otherwise apparent at birth. Although these conditions are rare, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development. On the other hand, the primary immunodeficiency diseases, which are severe and potentially life-threatening conditions, do not have, at this time, national newborn screening tests. In some circumstances, the screening tests, although available, are not useful. This is the case of some genetic diseases with no treatment available and with high rate of mortality during childhood. For these conditions the carrier screening, used to determine if a person is a carrier for a specific genetic disease, seems to be more interesting. This kind of testing has been used by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. The carrier testing, accompanied by genetic counseling, has already been demonstrated to significantly reduce incidences of some genetic disorders like cystic fibrosis and spinal muscular atrophy. In this case, ethical issues are related to possible different severity among people with the same mutation, like in the case of spinal muscular atrophy. Whether the general population or just a specific population should be offered screening is also still controversial. Considering the different phenotype diseases, their prevalence, the availability of valid and cheap screening methods in the absence of national screening programs, we think that a new cross-border screening program could be planned to implement and to improve detection rate of neonatal curable diseases as well a carrier testing thus helping to compare strategies and ethical impact.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" -
Hôpital Necker-Enfants Malades, Paris, France
University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
Pulmonology Department, University Children's Hospital, University Medical Centre, Ljubljana