Genetic Testing, Fundamental in the Field of Rare Diseases

Medical experts emphasize the importance of developing collaboration and medical education in the field of rare diseases. The project "Together MANY for RARE," launched in the fall of 2022, primarily involves organizing meetings between doctors and patients on the topic of a rare disease. Interdisciplinary collaboration and early diagnosis are extremely important regarding rare diseases, especially in the case of rare genetic cardiovascular conditions, where sudden cardiac death is a major risk, as highlighted by Prof. Ruxandra Jurcuţ, coordinator of the Center of Expertise for Rare Genetic Cardiovascular Diseases at the Emergency Institute for Cardiovascular Diseases "Prof. Dr. C.C. Iliescu." According to her: "Prevention also involves cardiologists' ability to recognize these diseases and diagnose them in time, ideally when they have the patient in front of them. First, they must be able to make the correct diagnosis, and this involves awareness, education - and here we are talking about continuous medical education, but also basic medical education, the one from university years - we talk about communication between specialists, and we try to organize as many such activities as possible. But, after diagnosing the index case, the other thing that saves lives, we have evidence directly in this regard, is to know that, being a genetic disease, we must look further into those families to diagnose other cases that will not be absent, especially in diseases with autosomal dominant transmission, to appear. If we manage to diagnose them early, before complications occur, the chance we give that patient to life becomes even more important."

"It is impossible for a doctor to know all rare diseases, and it is extremely important to develop medical education in the field of rare diseases starting from the level of students, residents, and young doctors, as well as to intensify multidisciplinary collaboration for a holistic approach to the patient suffering from a rare disease," said Prof. Dana Craiu, representative of the Pediatric Neurology Discipline at Obregia, the Center of Expertise for Pediatric Neurological Rare Diseases, and a full member of two European Reference Networks - EpiCARE (the network for rare and complex epilepsies) and ENDO-ERN (the network for rare endocrine diseases).

Genetic testing is essential, supports Ruxandra Jurcuţ: "Genetic testing is essential, and I think each of us can say that we have learned a lot of genetics in these years because only in this way can we properly monitor and care for our patients. We also have a great opportunity, namely that, in terms of costs, genetic testing has decreased significantly over the past two decades, and as a result, we can truly offer patients this type of evaluation. Also, there is evidence in cost-effectiveness studies that doing what is called genetic predictive screening in a family is more effective than monitoring all family members through imaging methods or classical methods."

Over 70% of all rare diseases have a genetic basis, and one in five cancers is rare, emphasized Prof. Viorel Jinga, Rector of the "Carol Davila" University of Medicine and Pharmacy Bucharest: "Medical and scientific knowledge of these diseases is lacking. The pathogenic mechanism is only known in about 10% of conditions. It is no wonder that establishing a correct diagnosis can take months or even years, generating unnecessary expenses for families and society. For the management of rare diseases, prenatal, neonatal, adolescent, and adult screening programs are required depending on the disease. The survival rate for patients with rare cancers compared to patients without rare cancer is 5 years. 72% of all rare diseases are genetic, others are the result of bacterial or viral infections, allergies, exposure to certain environmental conditions, or rare cancers. Around the world, about 300 million people live with a rare disease. One in five cancers is rare." Statements about the issue of rare diseases were presented at the Conference: "A Generator of Education and Research in the Field of Rare Diseases," held in the context of Rare Disease Awareness Month. The event was organized by the "Carol Davila" University of Medicine and Pharmacy Bucharest.