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. 2016 Oct 24;11(1):142.
doi: 10.1186/s13023-016-0527-7.

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Chiara Baldo  1 , Lorena Casareto  2 , Alessandra Renieri  3 , Giuseppe Merla  4 , Barbara Garavaglia  5 , Stefano Goldwurm  6 , Elena Pegoraro  7 , Maurizio Moggio  8 , Marina Mora  9 , Luisa Politano  10 , Luca Sangiorgi  11 , Raffaella Mazzotti  12 , Valeria Viotti  1 , Ilaria Meloni  3 , Maria Teresa Pellico  4 , Chiara Barzaghi  5 , Chiuhui Mary Wang  13 , Lucia Monaco  13 , Mirella Filocamo  14
Affiliations

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Chiara Baldo et al. Orphanet J Rare Dis. .

Abstract

Background: Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained.

Results: The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community.

Conclusions: The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to address research on RDs.

Keywords: Agreements; Biobanking; Networking; Patient involvement; Patient organisations; Rare diseases; Research; Sample and data centralisation.

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Figures

Fig. 1
Fig. 1
Tasks of the Parties
Fig. 2
Fig. 2
Sample workflow per type in the framework of the agreement Legend: Sample IN = incoming samples; Sample OUT = outgoing samples; PBMCs = Peripheral blood mononuclear cells; cell lines include fibroblasts, Epstein-Barr virus lymphoblasts, Induced Pluripotent Stem Cells, amniocytes and trophoblast cells
See this image and copyright information in PMC

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