19 September 2022

The potential of computerisation and digitisation in rare patients' management

According to recent estimates, between 2.1 and 3.5 million Italians live with one of the 6,000-8,000 rare diseases currently known. The National Recovery and Resilience Plan (NRRP) – a document prepared by the Italian Government in 2021 to access Next Generation EU’s funds – includes specific measures for these diseases (according to the European threshold, they affect less than 5 people out of 10,000) and €50 million each for research programmes and projects in the field of rare diseases and rare cancers in the 2023-2025 period. In addition, the NRRP distributes transversal resources through the 6th “Mission” dedicated to Healthcare, which aims at developing a digitalized and interconnected healthcare system, based on proximity, as well as promoting a modernization of the technological equipment of hospitals.

The National Rare Disease Plan 2013-2016 had already recommended the use of technological solutions such as telemedicine and teleconsultation to facilitate the exchange of clinical information and "reduce patient mobility and to make available the expertise and experience of the reference centres in the location where the patient is located". 

The contribution of new technologies, primarily artificial intelligence algorithms, is key for the reduction of diagnostic delay, a critical issue for patients with rare diseases: today, 40% of people with rare diseases receive a misdiagnosis, and 25% receive a correct diagnosis after 5 to 30 years, with huge costs and heavy repercussions on treatment possibilities.

Difficulties in accessing and managing data, which must be transformed into accessible information for doctors and patients, represent the main obstacle to the spread of digital technologies in the healthcare sector. In general, there is now an increasing amount of data that needs to be transformed into clinically relevant information; however, given that the information systems of healthcare facilities were initially designed for administrative rather than clinical purposes, most of the parameters with clinical relevance cannot be automatically extracted from databases.

The high age of health workers in Italy, which is higher than Europe’s average, might be another obstacle to the adoption of telemedicine and other digital technologies. The widespread resistance to change, as well as poor digital skills, might be addressed with awareness-raising and training programmes on the use of digital technologies in healthcare. At the same time, users' digital skills need to be enhanced: for example, home-based or bedridden patients would also benefit from telemedicine, especially for telemonitoring and remote control of their health; on the other hand, most of them are in old age and the least in favour of technology.

In order to overcome these limits, it is required a multidimensional and multistakeholder approach: it is essential to place all those involved in the management of rare patients at the centre of the innovation process. In other words, the creation of an interconnected and interoperable digital healthcare ecosystem requires a common effort and commitment from patients and caregivers (and associations), healthcare professionals and IT experts and practitioners, as well as the Directors General and Medical Directors of regional and national structures and institutions, who are responsible for promoting and coordinating this process towards a more efficient and sustainable healthcare system.

To learn more, download the Study prepared by our Healthcare Team, and presented on September 13, 2022 at the 3rd edition of the digital event "Rare illnesses in adults", realised with the contribution of Pfizer.

Malattie rare nell'adulto. Le potenzialità dell'informatizzazione e della digitalizzazione nella gestione dei pazienti rari” (in Italian)