With the new Budget Law, which came into force on January 1, 2024, a specific ad hoc fund was established for Next-Generation Sequencing (NGS) tests for the diagnosis of rare diseases. We are talking about one million euros which will be allocated to strengthening “genomic profiling as a first choice investigation or as an in-depth diagnostic study in rare diseases for which evidence and appropriateness are recognized, or in suspected cases of unidentified rare disease”, we read in the text.
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The new fund
What does this mean for patients? To answer this question precisely, we will have to wait for the implementing decree that the Minister of Health and the Minister of Economy and Finance will issue within 60 days, and which will establish the criteria and methods for allocating the fund. “In any case it is an important signal, because it recognizes the existence of a problem in this area,” he says Salute Paolo Gasparini, President of the Italian Society of Human Genetics (Sigu), professor of Genetics at the University of Trieste, director of the Department of Advanced Diagnostic Services and Medical Genetics of the IRCCS Maternal and Child at the IRCCS Burlo Garofolo Hospital. “Currently, in fact – explains the expert – the standard for the diagnosis of rare diseases is the analysis of the entire exome (i.e. of all the DNA that codes for proteins, ed.), which is extremely accurate. This type of NGS analysis, however, is not included in the new Essential Levels of Assistance (which will come into force next April, ed.), so in fact it is not offered to everyone: access depends on the individual center or the individual Region . Although the size of the fund is not particularly large, it could allow us to expand access.”
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The causes of diagnostic delay
Even today, many young patients with rare diseases are diagnosed even after the age of 10: a delay that has serious repercussions on the possibility of treating and recovering lost functions, especially when they concern neurodevelopment. The reasons for this delay can be different: not all centers have a medical geneticist, and the DNA tests used are not always really useful for diagnosis. In fact, NGS diagnostic tests that analyze sets of some pre-established genes exist and are already financed in the LEAs, but these panels, underlines Gasparini, are now superseded by the analysis of the exome and, in some cases, of the entire genome (which is even more extended, because it considers all the DNA, including the parts that do not code for proteins).
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The network for unsolved cases
Already in 2017, 11 Irccs (paediatrics but not only) came together to create the IDEA Network – Association of the Italian Developmental Age Health Network which meets every 15 days to evaluate the so-called unresolved diagnostic cases in a multidisciplinary and shared way: for many of these, exome or genome sequencing is used. “Technical, but above all human resources are needed – continues Gasparini – It is a model that could be strongly implemented, also allowing the reception of samples from regions where there are no structures capable of carrying out these tests. In Italy there are half a dozen centers that carry out them, and I believe for the future that the best approach is the hub&spoke organization model: that is, a few large centers that carry out the tests and produce the data, connected to other smaller centers capable to interpret them.”
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A conceptual leap is needed
More generally, even in our country we are already thinking about whether the best approach is not to carry out the sequencing of the exome or genome of the entire population at birth: in a well-organised system and overcoming regionalisation – says the expert – the use of those partial screenings that are not effective and which in any case have very high logistical costs could be reduced. At the moment, the cost of NGS analysis of the exome and genome is around 400-500 euros for the technology alone, to which must be added the costs for personnel and data storage, but obviously over time it will increasingly towards their reduction. “In my opinion – concludes President Sigu – it would be important to use the opportunity of the fund to make a conceptual leap, replacing the old idea of panels of a few genes with complete DNA analysis. A paradigm shift that could also open up new therapeutic avenues and promote the repositioning of already approved drugs.”
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