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The Spanish Federation of Rare Diseases (Feder) has launched this Tuesday the campaign ‘How do you see yourself in 2030?’ to demand an improvement in access to diagnosis and treatment of these pathologies, as well as “quality social and health care for the next decade”. Among other measures, the president of the entity, Juan Carrión, has defended the need to “promote measures that guarantee the access to genetic tests and neonatal screening techniques throughout the territory».
An example of this is the Neonatal Screening Programwhose included pathologies vary from the minimum of 10 established by the Ministry of Health up to 40 according to the autonomous community. “There is a lack of homogenization in the number of diseases included in neonatal screening.
We are aware that the Ministry has worked to increase three more pathologies, but we see situations of inequity in the comparison between autonomous communities. In Murcia, 40 diseases are included compared to the Valencian Community, which includes eight. In Galicia 31, in Madrid 18, in Navarra nine or in Asturias eight. In countries like Italy there are 42 and in the United States 59. There we clearly see the inequality in the number of tests included », he explained.
Half of families with rare diseases, those whose prevalence is below 5 per 10,000 population, expect more than 4 years to achieve a diagnosis and 20 percent of them have waited more than a decade, according to data provided this Tuesday at a press conference by Carrión.
To this is added that only 5 percent of the more than 6,172 identified in Europe have treatment. Meanwhile, it is estimated that more than 300 million people worldwide live with these pathologies, 3 million in Spain.
Another of the points that Carrión has stressed is the need to promote the State Registry of Rare Diseases, whose first report includes cases of 22 pathologies. However, he regretted that up to five autonomous communities have not yet shared the information with this registry. “Here we have another great challenge and challenge,” he detailed.
Likewise, the president of ERDF has denounced that Spain continues to be the only country in Europe that does not recognize the specialty of clinical genetics, transversal for rare diseases given the genetic nature of 70 percent of them. “We need health professionals trained in this aspect,” he claimed.
Orphan drugs
Carrión has also criticized that accessibility to treatment “varies depending on where the families live”, exemplifying that “only 40 percent of the 126 orphan drugs With authorization from the European Medicines Agency (EMA) are financed in the National Health System.
“There is unequal access to orphan drugs. In the last 3 years, more than half of the orphan drugs in our country have not been financed. The average time of the financing processes is practically two years. This is a long time for people who live with a rare disease, we have to be able to reduce it, since while families wait the deterioration continues to progress”, Carrión has maintained, adding that, for example, in Germany access is “practically immediate” .
From FEDER they have also highlighted the need to “provide more information to socio-health professionals regarding the 291 CSUR reference centers existing in our country. “We also need to publicize the procedure to refer the patient to a reference center,” added Carrión in this regard.
Finally, the president of the association has requested that “the evaluation and updating of the Strategy for Rare Diseases of the National Health System be made effective.”
«It is necessary to promote and implement the development of the Rare Diseases Strategy of the National Health System, updating it with sufficient resources and guaranteeing coordination throughout the territory. 11 rare disease plans or committees are identified, with different degrees of development and, consequently, different realities depending on their scope of application”, they point out from the association.
Carrión has recalled that the Strategy has not been updated since 2014although he has pointed out that he has the “ratified commitment” from the Minister of Health, Carolina Darias, that a review will be promoted.
In the same way, and at the regional level, Carrión has asked the autonomous communities to “develop and promote comprehensive plans and policies on rare diseases aimed at guaranteeing equity in access to resources.” Currently, 9 comprehensive plans for rare diseases are identified with different degrees of implementation, 2 specialized committees and 8 autonomies without specific policies.
For his part, the General Director of Disability Policies of the Ministry of Social Rights and the 2030 Agenda, Jesús Martín Blanco, has indicated that “it is time for the first person”. “We have to open the cupboards of the institutions so that people with rare diseases can be the protagonists of our destiny, have their own voice and be heard”, he concluded.
