Debate on how to promote a paradigm shift in the diagnosis of Rare Diseases
The recognition of clinical genetics as a health specialty; the need to advance in a national strategy that allows bringing together the progress made in each autonomous community to reduce inequity and inequality in the diagnosis and treatment of rare diseases; and the need to work more with data as well as its coordinated management at a national level were some of the main conclusions obtained during the Awareness Day on the need to accelerate and improve patient access to the diagnosis of Rare Diseases, organized on Tuesday 22nd of February by Ipsen and BioInnova Consulting. Representatives from the institutional, clinical and technological fields have attended the conference, held at Isabel Zendal Emergency Hospital in Madrid.
Aurora Berra de Unamuno, General Director of Ipsen Pharma, opened the conference together with José Luis Poveda, Head of the Hospital Pharmacy Service at the La Fe Hospital in Valencia. In her speech, the general director of Ipsen Pharma recalled that, although there are already various initiatives underway to improve early diagnosis, "even today, a patient with a rare disease waits an average of 4 years in our country to obtain a diagnosis, and in 20% of cases, it takes 10 or more years to get the right one”. In this sense, José Luis Poveda, head of the Hospital Pharmacy Service at the La Fe Hospital in Valencia, has underlined "the importance of these patients being cared for in a multidisciplinary way", so that they have the possibility of receiving adequate treatment.
Juan Carrión, president of FEDER and moderator of the last table focused on how to take advantage of technology to improve the diagnosis of patients with rare diseases, has also insisted that "we still have a long way to go to avoid the existing inequity in neonatal screening between autonomous communities”.
Regarding the role of technology, Joaquín Dopazo, director of Bioinformatics at the Fundación Progreso y Salud of the Junta de Andalucía, pointed out that “genomic sequencing has made it possible to make diagnoses more precise; today the barriers are no longer a matter of price but a problem of data management”. There is still a long way to go, because "we must do sequencing, in order to use all the data we accumulate from our patients for their benefit."
In this last part of the debate, Julián Isla, software engineer and father of a child with a rare disease, and Francesc Cayuela, president of Federació Catalana de Malalties Minoritàries (FECAMM) and founder of BD Care, have both highlighted that two of the barriers they have found for the use of technology in rare diseases are that medical professionals do not have time to get involved in other tools to use in clinical practice and that in Spain there is a significant lack of data needed to be able to program and train the technologies and thus automate the diagnostic process.
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