Newborn screening helps to get ahead of the disease. Diagnosis can be made even before symptoms appear

- We detect all cases of children who have inherited the genes that cause SMA. We can implement treatment in them right away. We also already have better organized centers, but most importantly - a whole portfolio of therapies. In addition to nusinersen, we also have gene therapy with Zolgensma, which, in its assumptions, causes a permanent cure. However, the use of this gene therapy is limited by the weight of the child, so it's an option for children with neonatal screening. We have another therapeutic option. This is an oral drug that can be administered when nusinersen therapy cannot be used," summarizes the operation of the SMA drug program by Professor Marcin Czech, a health care expert at the Mother and Child Institute.

Meanwhile, in 2021, the government adopted the Plan for Rare Diseases 2021-2023. One of its important areas is to improve the diagnosis of rare diseases. Included in this goal is the diagnosis of lysosomal diseases, which at such an early stage is only possible on a wider scale through so-called universal newborn screening.

It turns out that a single test, performed on the basis of the so-called dry blood drop test, can include the determination of enzymes of Pompe disease, Fabry Gaucher disease, Krabbe disease, ASMD (Niemann-Pick A/B disease), MPS 1. In the event of a positive result for one of the diseases covered by the testing package, it is possible to detect the condition early, allowing the implementation of effective treatment, protecting the child from life-threatening complications of the disease and improving the quality of life.

- Currently, this is based on selective screening, conducted in risk groups: when a child has developmental delay or dysmorphia or suggestive symptoms. This selective screening is possible thanks to the very high activity of pharmaceutical companies, which distribute screening blotters in clinics and hospitals so that selective screening can be performed. We know that in some lysosomal diseases, early diagnosis, preferably in the pre-symptomatic period, makes it possible to implement such treatment that is able to maximally inhibit the progression of the disease, notes Prof. Robert Smigiel, head of the Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases at the Wroclaw Medical University.

A solution that could increase the detection of lysosomal and storage diseases could be to expand access to testing.

- Population-based screening is only possible in some countries or US states, as pilot programs. In theory, this is the best solution, but looking at all the criteria for population screening, it is not clear that it is possible to introduce it and convince decision makers to pay for this test. Selective screening, i.e. awareness, education and greater use of the test in groups of patients who have even already subtle symptoms, makes more sense," points out Prof. Robert Smigiel.

Since July, however, the Early Detection of Developmental Defects in Newborns and Infants Program has been in effect in the Lower Silesian province. The program aims to target appropriate diagnosis and therapy in children who are born with congenital developmental disorders or have a suspicion of such a disorder.

- The program aims to quickly define the patient and enable e-consultation of specialists when a child has a developmental disorder. This is to support parents in early diagnosis, or to define more quickly what form of diagnosis or therapy a child needs at the first stage of his or her life. The program covers activities that are not included in the basket of guaranteed benefits. Based on the still short experience we have, only two months, we see that the most awaited are genetic-metabolic consultations, for which there is the longest wait," says Prof. Smigiel.