Information for patients
Patient organisations will potentiate patient enrolment and empower patients to shape the incorporation of novel technologies into diagnosis and management of IMDs.
Partner UNIAMO (Federazione Italiana Malattie Rare) is an umbrella patient organisation founded in 1999, representing more than 180 federated associations, accounting for over two million people with rare diseases in Italy.
The mission of UNIAMO is to improve the quality of life of people affected by rare diseases through the implementation, promotion and protection of the vital rights of people living with a rare disease, their families and caregivers, in research, in bioethics, in health and social policies.
UNIAMO is working at international, national and regional level; it is the designated national alliance of the Council of National Alliances of EURORDIS-Rare Diseases Europe, a unique, non-profit alliance of over 1,000 rare disease patient organisations from 74 countries that work together to improve the lives of over 300 million people living with a rare disease globally.
UNIAMO is involved in several Italian Committees and Boards on Rare Diseases on specific issues such as:
the National Rare Disease Committee at the Ministry of Health, the committee carries out guidance and coordination functions, defining the strategic lines of national and regional policies on rare diseases;
the National Coordination Board for Ethics Committees;
the National Coordination Board for the Newborn Screening to ensure the uniformity and quality of the test throughout the national territory included in the mandatory public screening program (49 mainly metabolic diseases).
Within Recon4IMD, UNIAMO is the lead partner for the following tasks:
Task 1.2 Proactive patient engagement
To identify patient organisations contributing to patient recruitment, UNIAMO in collaboration with EURORDIS, will potentiate patient enrolment by constituting a patient HELPDESK, which will scout for patients among the affiliated patient organisations. In order to increase awareness and knowledge regarding novel computational approaches and data management among patients, UNIAMO will organise dedicated webinars and short videos that communicate, in lay words, to help with patient empowerment on this new frontier of technology. Furthermore, UNIAMO will contribute to the drafting of the informed consent of the patient to whom genome sequencing will be proposed and to the definition of a shared model of pre- and post-counselling.
Task 8.1 Assessment of stakeholder perspectives on the exploitation of novel diagnostic and patient-management technologies
In order to assess patient perspectives regarding the exploitation of novel computational approaches to diagnosis and management of patients with IMDs, UNIAMO will create surveys in lay words to develop an evidence base on the current experience of patients regarding diagnosis and management of a broad collection of IMDs. Furthermore, they will survey patient hopes and expectations regarding new technological frontiers, to enhance patient empowerment in decisions on the future exploitation of novel technology in this area. More generally, a multi-stakeholder working group will be established to summarise the ethical, legal, technological, and logistical issues associated with the exploitation of novel technology for the diagnosis and management of disease in IMD patients. This will include topics, such as a) the involvement of patients, with specific regard to minors, in generating data, b) informed consent, c) intellectual property aspects and d) the involvement of patients in the exploitation of the results, and e) identification of opportunities suitable and unsuitable for exploitation by private companies.