Italy continues its quest to lead rare disease policy with newborn screening law

by Francesca Catassi
The Law on newborn screening makes Italy a leader in the early diagnosis of rare diseases.

The Law on newborn screening makes Italy a leader in the early diagnosis of rare diseases. But there is still a long way to go.

The 16 patients’ federations and associations which have made an appeal to the Parliament and the Government in favour of the amendment to the Italian Budget Law welcomed very warmly the good news although only 4 million euros more will be available per year compared to the 8 originally required.

The approval of the Volpi amendment

On 3 December 2018, the Budget Commission of the Italian Chamber of Deputies approved an amendment to the Budget Law on newborn screening. This proposal, also known as the ‘Volpi amendment’ from the name of the first signatory, the Five Stars Movement MP Leda Volpi, extends the newborn screening to genetic neuromuscular diseases, severe congenital immunodeficiencies and lysosomal storage diseases. With this amendment, the Ministry of Health will have the possibility to insert new rare diseases in the list of diseases to be detected through the test. In addition, the Ministry will have a new obligation to update the panel every two years according to scientific progress. The budget allocated to newborn screening has been raised from 25.715 to 29.715 million euro per year.

Newborn screening is a non-invasive test that is performed by taking a drop of blood from the heel of the newborn in the first hours of life in order to detect the presence of serious diseases that may occur only after birth. This allows for the detection and activation of appropriate therapies, before the development of symptoms. As such, it represents a novel approach to diagnosing rare diseases.

The Volpi amendment sets in place a new phase (the so-called ‘phase 2’) in the Law 167/2016, better known as ‘Taverna Law’. This Law has had the merit to extend the neonatal screening -mandatory and free of charge for parents- for 47 inherited metabolic diseases uniformly over the entire national territory.

The Italian model in Europe

In the European Union, the situation of the newborn screening varies a lot among Member States.

In 2015, Germany adopted a system of newborn screening for 14 diseases. The English Health system allows for the newborn blood spot test for 9 rare diseases (recommended but not compulsory). In France only 5 diseases are screened at birth, 7 in Spain.

The most advanced countries in this field are Sweden, Finland, Hungary, Poland and Portugal where a range from 22 to 26 diseases are compulsorily screened at birth (except for Portugal, where the screening is not compulsory).

Still, Italy profiles itself as a leader amongst Europe’s countries when it comes to newborn screening. This is now even more the case with the Volpi amendment.

For this reason, on 30 January, Senator Paola Taverna, who is behind the Law 167/2016, will bring the Italian project of the extended newborn screening and the results obtained to the attention of the European Parliament. The event, hosted in collaboration with the Vice President of the European Parliament Fabio Massimo Castaldo, has the intention to, “at least for once”, make “Europe learn from Italy”, as Senator Taverna expressed it.

All that glitters is not gold

The Law 167/2016, as amended by MP Volpi, is followed by four other bills on rare diseases and orphan drugs proposed respectively by two Senators (Paola Binetti and Antonio de Poli) and two MP (Paolo Russo and Fabiola Bologna).They call for the full recognition of the right to be cured and introduce some exemptions for the tests and the purchase of medicines.

However, it is not a secret that in Italy the problem is rarely the lack of laws, but their -homogeneous- implementation.

The Government now needs to implement the reformed Law through a Ministerial decree.  There is a risk that if it not implemented quickly, it will never be. Stakeholders should make their voices heard to make sure that the Government implements these laws as quickly as possible. This was the fate of the National Plan for rare diseases that expired in 2016 and has never been renewed since by the previous and current Government.

Important progress has been made, but politicians should resist the urge to rest on their laurels.