With over 7000 identified rare diseases, affecting 3.5% – 5.9% of the global population, humanity today faces serious challenges because although these diseases are rare collectively, their impact on the human population and on health systems is often underestimated.
Worldwide, over 300 million people, mostly children, face the burden of rare diseases, often travelling unexplored paths of medical phenomena. One of the key problems that people with rare diseases facing is uncertainty about the diagnosis. Unfortunately, many patients will not get a diagnosis during their lifetime, which further complicates the understanding of their condition and makes it impossible to provide appropriate therapy. This issue raises particular concern given that many of these diseases are life-threatening. Statistical data indicate the severity of the situation, where as many as 62% of those suffering from rare diseases face a shortened life expectancy.
Some of the rare diseases have even outgrown the “rare” classification, highlighting the need for continued research and adaptation of medical definitions to meet new challenges. Digitization is laying the foundations for the transformation of medical practice, providing innovative and indispensable tools that enable timely and accurate diagnosis, personalized treatment and long-term monitoring of outcomes.
When it comes to the treatment of rare diseases, at the moment 95% of them do not have approved treatments. Large pharmaceutical companies invest a lot of effort in the development of therapies, while small biotech companies also play an important role. The specificity of these therapies is that they are often very expensive, and their effectiveness and safety should be monitored over many years.
In order to better understand how digitization becomes a valuable ally in the fight against rare diseases, it is important that the specific challenges in testing and applying therapies for these diseases should be considered, as well as what software solutions can provide answers to these challenges. Here’s an overview of some of the key challenges and digital solutions:
Identification of patients and participants in clinical trials: part of the solution in this case is the adaptation and improvement of the electronic record and the formation of patient registries, which facilitates the identification of patients and potential participants in clinical trials.
Training and awareness of healthcare professionals: educational applications can significantly contribute to the training and awareness of healthcare professionals about rare diseases, their diagnosis and therapy.
Decentralization of clinical trials: telemedicine enables the decentralization of clinical trials, allowing patients to participate in research from the comfort of their homes.
Patient-centred approach: telemedicine and Patient Reported Outcome (PRO) applications allow patients to actively participate in monitoring their health and treatment outcomes.
The company Heliant, as a leader in the field of health IT, monitors and supports the significant progress that has been made in our country in recent years in this area, whereby we would emphasize placing the treatment of rare diseases on the list of state priorities, increasing the financing of treatment from the NHIF budget and the introduction of mandatory neonatal screening examination for spinal muscular atrophy.