Rare diseases, average diagnosis delay 5 years: national survey explores causes and effects

Exploring the causes and effects of the diagnostic delay in rare diseases, a "limbo" that, according to estimates, lasts approximately five years in Europe. This is the objective of a national survey launched as part of the "Women in Rare" project, now in its second year and promoted by Alexion, AstraZeneca Rare Disease, in partnership with Uniamo and in collaboration with Fondazione Onda. The survey aims to analyze the various factors that can lead to a late diagnosis, from education to employment, from geographic area to gender differences. A particular focus is on the latter, to understand whether—all other things being equal—being a woman poses an additional disadvantage in obtaining a rare disease diagnosis. ( VIDEO )

For those suffering from a rare disease, diagnosis can be a real challenge, explain the initiative's promoters. The causes of diagnostic delays are many—cultural, social, healthcare, and territorial—but the result remains the same: the time between the onset of the disease and the start of treatment has significant consequences for the clinical management of the disease, access to treatment, social and employment inclusion, and the quality of life of both the patient and caregiver. This burden falls especially on women, both as patients and caregivers, given that the incidence of rare diseases is higher among women and that approximately 90% of caregivers of people with rare diseases are women. The survey aims to explore this area, to gather data useful for promoting intervention policies and priorities for action at the national level. The questionnaire is available on the Uniamo website (https://uniamo.org/le-nostre-campagne-e-indagini/), active until August 8th and then from September 15th to October 17th.

"Analysis of the collected data will allow us to assess the causes and impact of diagnostic delays on health, education and employment, quality of life, and the care burden of both patients and caregivers, with particular attention to any gender differences," says Ketty Vaccaro, head of biomedical research and health at the Censis Foundation, which developed the survey and will prepare the final report. "It will be important to estimate the economic and social costs associated with the failure to recognize diseases early, both for families and for the country as a whole, and to map regional differences in terms of access to services, especially diagnostic services." The project will also collect information on the costs incurred by people with rare diseases and their families: direct and indirect costs related to diagnostic delays and their impact on the country will be assessed. Based on this data, thanks to a collaboration with Altems, a pharmacoeconomics study will be produced.

"The diagnostic delay is a challenge for all rare disease patients: it can be a long, complex journey, fraught with trials, waiting, and personal, professional, and emotional costs," Annalisa Scopinaro, president of Uniamo, describes. "With this survey, we want to focus on the stories of patients and caregivers to understand, beyond the length of the journey, the obstacles they encounter and the consequences the delay has on their daily lives. Deepening the path of rarity in the social, healthcare, and economic spheres is a fundamental step in shedding light on all the complexities and consequences these diseases entail. The data we process will provide decision-makers with scientific evidence, enabling them to plan concrete actions aimed at reducing gender, health, and social inequalities."

The creation of a first-of-its-kind database that could provide all stakeholders in the sector with a detailed picture of the status of women in the rare disease field was one of the key milestones achieved during the first edition of Women in Rare, the promoters recall. "Over the years, the Women in Rare project has worked to address the inequalities affecting women, both patients and caregivers, in the rare disease field," says Anna Chiara Rossi, VP & General Manager Italy Alexion, AstraZeneca Rare Disease. "We began in 2023 with an initial survey that, for the first time in Italy, provided an objective picture of the impact these diseases have on women in our country."

"This year," Rossi continues, "we are strengthening the project by establishing a Think Tank whose goal is to continue gathering scientific evidence and knowledge in this field. We want to demonstrate, with concrete data, how delays in diagnosis and access to treatments have a huge impact not only on people with rare diseases, but also on the entire healthcare and social system. And we want to work with institutions, patient associations, the scientific community, and all stakeholders in the rare disease ecosystem to jointly develop new lines of action aimed at promoting a more equitable approach to healthcare."