Current trends in biobanking for rare diseases: a review

Authors Graham CE, Molster C, Baynam GS, Bushby K, Hansson M, Kole A, Mora M, Monaco L, Bellgard M, Carpentieri D, Posada M, Riess O, Rubinstein YR, Schaefer F, Taruscio D, Terry SF, Zatloukal K, Knoppers B, Lochmüller H, Dawkins HJS

Published Date November 2014 Volume 2014:2 Pages 49—61

DOI http://dx.doi.org/10.2147/BSAM.S46707

Received 13 February 2014, Accepted 11 April 2014, Published 21 November 2014

Video abstract presented by Caroline Graham.

Caroline E Graham,¹ Caron Molster,¹ Gareth S Baynam,^1–4 Kate Bushby,⁵ Mats Hansson,⁶ Anna Kole,⁷Marina Mora,⁸ Lucia Monaco,⁹ Matthew Bellgard,¹⁰David Carpentieri,¹¹ Manuel Posada,¹² Olaf Riess,¹³Yaffa R Rubinstein,¹⁴ Franz Schaefer,¹⁵ Domenica Taruscio,¹⁶ Sharon F Terry,¹⁷ Kurt Zatloukal,¹⁸ Bartha Knoppers,¹⁹ Hanns Lochmüller,⁵ Hugh JS Dawkins^1,10,20,21

¹Office of Population Health Genomics, Western Australian Department of Health, ²Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, ³School of Paediatrics and Child Health, University of Western Australia, ⁴Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Australia; ⁵Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK; ⁶Centre for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden; ⁷European Organisation for Rare Diseases, Paris, France; ⁸Neuromuscular and Neuroimmunology Unit, C Besta Neurological Institute, ⁹Fondazione Telethon, Milan, Italy; ¹⁰Centre for Comparative Genomics, Murdoch University, Perth, Australia; ¹¹Phoenix Children's Hospital, University of Arizona, Mayo Medical School, Phoenix, AZ, USA; ¹²Institute of Rare Diseases Research, ISCIII, Instituto de Salud Carlos III, Madrid, Spain; ¹³Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, Tuebingen, Germany; ¹⁴Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; ¹⁵Center for Pediatrics and Adolescent Medicine, Division of Pediatric Nephrology, Heidelberg, Germany; ¹⁶National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; ¹⁷Genetic Alliance, Washington, DC, USA;¹⁸Institute of Pathology, Medical University of Graz, Austria; ¹⁹Centre of Genomics and Policy, McGill University, Montreal, Canada; ²⁰Centre for Population Health Research, Curtin University of Technology, ²¹School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia

Abstract: Rare diseases (RD) refer to a collection of approximately 5,000–8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-threatening, degenerative and affecting different organ systems. The burden of RD is often exacerbated by a lack of specific treatments. Whilst there is etiological heterogeneity, there is overlap in cellular and molecular pathways. Amongst specialists, there is legitimate hope that based on genetic knowledge and pathway definition, a new medical classification system, currently called “precision medicine”, will be developed, which may change our view on how to apply shared therapeutic targets. Thus, collection of clinical and genetic data and biospecimens (in biobanks) will play an increasing role in diagnoses and development of therapies for RD. Biobanks are maintained collaboratively by researchers or their institutions, and involve a delicate balance between health policy objectives, academic research, public good outcomes, and community trust. Due to the nature of RD, international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. Here we review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD.

Keywords: biobank, biospecimen, rare disease