Biobanks, Registries and National Health Records: Modelling a Networking Strategy to Foster Research and Development and to Support the Secondary Use of Data and Samples of Rare Disease Patients: Implementing Dynamic Consent for Rare Disease Patients

The study is organized into three main steps. Firstly, an anonymous Consent Survey, will be prepared to collect the opinions of stakeholders engaged in the RDs on strengths and weaknesses of the process of consent and assent collection. This Survey will be conducted through SurveyMonkey or similar tools, posted on websites and social media, and made available to all stakeholders (patients, carers, healthcare professionals, patient associations). Key topics like the proper consideration of paediatric specificities due to age-dependent characteristics and patient satisfaction in terms of information received during the consent/assent process will be addressed.

The survey will comprise multiple-choice and open questions. Expectations related to the use of dynamic consent, potential disbeliefs, and tools for promoting and regulating participation into future research studies (text, video) will also be evaluated. Statistical analysis on survey results, as well as sentiment analysis, will be performed.

The second step will consist of two main activities:

A) the realization of dynamic informed consent and assent templates for the processing and management of data and samples. The templates will be drafted based on the long-standing experience of the research teams and the outcomes of the Consent Survey, along with the available literature and guidelines. They will be designed in full compliance with the GDPR as implemented by the Italian legislation. Information on patients' rights, purposes of data usage, legal basis and measures taken to implement lawfulness of data processing will be included.

B) The design and establishment of an innovative digital tool (a software application) to implement the dynamic consent and allowing interaction among healthcare professionals and patients. This tool will be designed considering multiple aspects, like Consent Survey results. Firstly, this tool will guide patients and caregivers to a rapid and easy access to their consent/assent, allowing them to have a clear picture of their consented studies and consenting preferences, to possibly modify and/or withdraw their consent. Secondly, new studies will be synthetically published on the digital tool, in order to favour the patients' engagement, with a particular attention to adolescents and young adults who are more familiar with these approaches, being digital natives. RD patients may be re-contacted to be informed about any new purposes of data and sample processing. The digital tool will allow healthcare professionals to give feedback on ongoing studies and to present results in layman's terms to patients. Finally, it will be of help in critical steps of the research process, such as re-consenting procedures for minors who reach the age of legal competency. Considering all the mentioned components, the digital tool will promote a high-level of transparency. The final positive impact expected is an improved process resulting in reduced costs for both patients and the National Health System. In fact, the integration of data from multiple sources will result in increased knowledge and dissemination of correct information directly to patients thus drastically reducing misinformation, duplicate visits, and optimizing patient enrolment.