Title of Presentation
“The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks”
Date and Place
Chiara Baldo obtained a Bachelor of Science degree in Biology and a postgraduate qualification in Medical Genetics at the University of Genoa.
She is on permanent staff of the Human Genetic Laboratory at Galliera Hospital in Genoa, Italy, and currently she works in the cytogenetic unit of the lab. She has been working in the biobanking field for more than 15 years and since 2009 she has been the curator of the genetic biobank “Galliera Genetic Bank: a cell lines and DNA biobank”, established in 1983. Currently the biobank stores more than 10,000 biospecimens and associated data from about 200 genetic disorders including rare ones. Since 2008 the biobank has been a partner of the “Telethon Network of Gentic Biobanks” (TNGB).
Dr. Baldo’s interests lie in biobanking for rare diseases in particular in drafting regulations and certification criteria as well as in the development of the relationship with Patient Organizations.
Rare diseases (RDs) are often neglected as they affect a small percentage of the population. This implies that the research and the development of new therapies are challenging processes. Genetic Biobanks, offering a fair access to high-quality samples and the associated data, play a pivotal role in the advancement of research on RDs. Therefore, a strong collaboration between Genetic Biobanks and RD-Patient Organizations (POs) is essential to both strengthen the trust of patients in biobanking activities and gain a critical mass of samples and data. Since its establishment, the Telethon Network of Genetic Biobanks has started a dialogue with the Pos and has also promoted their active involvement in drafting biobank policies and procedures. The process of patient engagement has proved to be successful for both the lay members who have increased their understanding of the complex processes of biobanking, as well as, the professionals who have gained knowledge of the people’s needs and expectations. The collaboration has resulted in a real interest of POs in the biobanking service which has led to 13 written agreements fashioned to formalise this process. The Agreements enabled the centralisation of RD biospecimens and related data, making them available to the Scientific Community for specific projects. TNGB experience is an example of good practice of patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations to enhance awareness and trust and to solicit the scientific community to address research on RDs.