Every year, thousands of children around the world are born with rare genetic diseases
leading to death or lifelong disability. With technological advancements in the field of
genetics and medicine, the rate of introduction of treatments for these rare conditions
has grown remarkably.
However, timing is of great importance for medication administration. The benefit that
can be measured in a patient who has already suffered from a long irreversible
degenerative disorder is small and, sometimes, it hardly justifies the cost and the
burden of the treatment. Early diagnosis is, thus, of primary importance both to obtain
the best effect of the innovative medications and to accelerate their development.
The investigators are pioneered in the field of genetic newborn screening (NBS) in rare
diseases by funding, designing, and leading an innovative genetic NBS program initiated
in March 2018 in Southern Belgium for Spinal Muscular Atrophy (SMA) that allowed, so far,
for 11 children to be detected and treated early and avoid the terrible fate of the
disease. The program was disseminated in 17 countries and included public dissemination
and health-economic analysis since the very beginning [1].
(www.facebook.com/sunmayariseonsma).
Drawing upon our experience with SMA screening, the investigators have designed a project
to screen up to 40,000 newborns/year progressively in 3 years for virtually all the rare
diseases that can benefit from treatment or a pre-symptomatic clinical trial.
The methodology of Baby Detect includes sequencing of target genes on dried blood spots
collected from the NBS cards in a timely and cost-efficient manner, and its high
dynamicity allows for any newly treatable rare disease to be included in its scheme in no
longer than 6 months.
Baby Detect, as a multidisciplinary newborn screening program, involves expertise in
areas from genetics and medicine to laboratory studies, computer science, Data
Protection, Ethics, and health economy. It will constitute the proof of concept that is
needed before moving to a whole region-scale population.