Alba Ancochea
EURORDIS (Rare Diseases EU) and FEDER (RD SP), EU
Title: Measuring the impact of Diagnosis and Treatment of Rare Diseases
Biography
Biography: Alba Ancochea
Abstract
Statement of the Problem: Knowlegde on the impact of Rare Diseases on people living with a RD and their families’ lifes is essencial to draft the value of diagnosis, treatment and health care. There has been a significante aceleration in diagnosis and treatment development, but their impact on people lifes can’t be assumed. The 2nd study “Spanish People Leaving with a Rare Diseases(PLWRD) social needs” compares and analizes the diagnosis delay and its consequences as well as treatment dificulties between 2009 que 2017. Outcomes from other RD impact Surveys, are also analized and compared.
Methodology
1,576 questionnaires have been collected for PLWRD and their families, more than double collected in the first study in 2009. Furthermore 8 discussion groups and 14 interviews have been conducted.
Main Findings:. As in 2009, half of the people surveyed have been delayed in their diagnosis; almost 1 of every 5 people with Rare Diseases (19%) has taken more than 10 years to get it and a similar percentage (18%) between 4 and 9 years. More than a third of the people studied say they have difficulties accessing the medical devices or medicines they need, mainly due to their high price, the absence or withdrawal of the product or bureaucratic problems. This situation has worsened compared to 2009, when was a quarter of the population studied who have difficulties for this access.
s. Conclusion & Significance: Obtaining a diagnosis is a determining factor for proper medical and health care, which can include symptom-driven treatments, prevention strategies, and avoidance of unnecessary interventions. Although the new diagnostic technologies for better management of diseases are promising, their impact on clinical practice is still limited. Understanding of the genetic basis of diseases, coupled with advances in biotechnology and drug development, have led to progress, nevertheless patients can benefit only to the degree that they have access to tests and interventions.