title: The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors: S.C. Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genoa, Italy.
authors: Chiara
authors: C
authors: Baldo
authors: Ufficio Coordinamento Network, c/o U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genoa, Italy.
authors: Lorena
authors: L
authors: Casareto
authors: Medical Genetics, University of Siena and Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors: Alessandra
authors: A
authors: Renieri
authors: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, FG, Italy.
authors: Giuseppe
authors: G
authors: Merla
authors: U.O.C. Neurogenetica Molecolare, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milan, Italy.
authors: Barbara
authors: B
authors: Garavaglia
authors: Parkinson Institute, ASST Centro Specialistico Ortopedico Traumatologico G. Pini - CTO, Milan, Italy.
authors: Stefano
authors: S
authors: Goldwurm
authors: Università di Padova, Azienda Ospedaliera Universitaria, Padova, Italy.
authors: Elena
authors: E
authors: Pegoraro
authors: Neuromuscular and Rare Diseases Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors: Maurizio
authors: M
authors: Moggio
authors: Laboratorio di Biologia Cellulare, UO Malattie Neuromuscolari e Neuroimmunologia, Fond. IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors: Marina
authors: M
authors: Mora
authors: Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli e Azienda Ospedaliera Universitaria della SUN, Naples, Italy.
authors: Luisa
authors: L
authors: Politano
authors: S.S.D. Genetica Medica e Malattie Rare Ortopediche Istituto Ortopedico Rizzoli, Bologna, Italy.
authors: Luca
authors: L
authors: Sangiorgi
authors: U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Via G. Gaslini 5, 16147, Genoa, Italy.
authors: Raffaella
authors: R
authors: Mazzotti
authors: S.C. Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genoa, Italy.
authors: Valeria
authors: V
authors: Viotti
authors: Medical Genetics, University of Siena and Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
authors: Ilaria
authors: I
authors: Meloni
authors: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, FG, Italy.
authors: Maria Teresa
authors: MT
authors: Pellico
authors: U.O.C. Neurogenetica Molecolare, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milan, Italy.
authors: Chiara
authors: C
authors: Barzaghi
authors: Fondazione Telethon, Milan, Italy.
authors: Chiuhui Mary
authors: CM
authors: Wang
authors: Fondazione Telethon, Milan, Italy.
authors: Lucia
authors: L
authors: Monaco
authors: U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Via G. Gaslini 5, 16147, Genoa, Italy. mirellafilocamo@gaslini.org.
authors: Mirella
authors: 0000-0001-5505-8507
authors: M
authors: Filocamo
mesh_terms: D018070:Biological Specimen Banks; D035843:Biomedical Research; D006801:Humans; D035583:Rare Diseases
keywords: Agreements; Biobanking; Networking; Patient involvement; Patient organisations; Rare diseases; Research; Sample and data centralisation