Abstract
For the past 15 years biobanks have been infrastructures that have permitted to ensure the quality of the biological resources used as well as guarantee the rights of stakeholders. Due to their medical and scientific expertise, they offer collections of human biological resources that meet with research project requirements. Because of their secure storage capacities, biobanks are front-line actors in collection management by enabling their development, ensuring their continued existence and their valorisation in relevant research projects. At the cross-roads of patient inclusion, sample and associated data collection and logistical facilities, biobanks have become a significant partner of translational research and personalised medicine, almost essential in the field of rare diseases research as a result of the difficulty of obtaining the samples.
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References
Oktay MH, Hui P (2012) Molecular pathology as the driving force for personalized oncology. Expert Rev Mol Diagn 12(8):811–813
Kalia M (2013) Personalized oncology: recent advances and future challenges. Metabolism 62:S11–S14, Suppl1
Palau F (2012) Personalized medicine in rare disease. Personalized Med 9(2):137–141
Rugnetta M, Whitney K (2009) Paving the way for personalized medicine. Sci Prog. http://www.scienceprogress.org/wp-content/uploads/2009/09/personalized_medicine.pdf. Accessed 12 Dec 2012
Lehrach H (2012) A revolution in healthcare: challenges and opportunities for personalized medicine. Personalized Med 9(2):105–108
Clotworthy M (2012) The application of human tissue for drug discovery and development. Expert Opin Drug Discov 7(7):543–547
Yüzbaşioğlu A, Ozgüç M (2012) Biobanking: sample acquisition and quality assurance for ‘omics’ research. N Biotechnol 30(3):339–342
OECD (2000) Biological resources centres: underpinning the future of life sciences and biotechnology. DSTI/STP/BIO 4 REV1 http://www.oecd.org/sti/biotech/2487422.pdf. Accessed 30 Dec 2012
European Strategy Forum in Research Infrastructures (ESFRI) (2012) European research infrastructures with global impact. http://www.copori.eu/_media/ESFRI_Brochure_210912_lowres.pdf. Accessed 30 Dec 2012
Meeting Europe’s challenges: the role and importance of biological and medical sciences research infrastructures (2010) http://www.eurobioimaging.eu/sites/default/files/BMS%20Strategy%20Paper.pdf. Accessed 30 Dec 2012
Meijer I, Mattson P, Nooijen A, Boekholt P, Molas Gallart J, Amat CB (2010) BBMRI: an evaluation strategy for socio-economic impact assessment http://www.technopolis-group.com/resources/downloads/life_sciences/1093_BBMRIfinalreport_100921.pdf. Accessed 30 Dec 2012
OECD best practice guidelines for biological resource centres (2007) http://www.oecd.org/sti/biotechnologypolicies/38777417.pdf. Accessed 30 Dec 2012
Gottweis H, Kaye J, Bignami F, Rial-Sebbag E, Lattanzi R, Macek M (2012) Biobanks for Europe – a challenge for governance. doi:10.2777/68942. http://www.coe.int/t/dg3/healthbioethic/Activities/10_Biobanks/biobanks_for_Europe.pdf. Accessed 30 Dec 2012
Martín Uranga A, Martín-Arribas MC, di Donato JH, de la Paz Posada M (2005) Outstanding legal and ethical issues on biobanks. Instituto de Salud Carlos III, Madrid
Norme NF S 96–900: Quality of Biological Resources Centres (BRC) – Quality management system of BRC and quality of biological resources. (2011) French document
Martín Uranga A, Martín-Arribas MC, di Donato JH, de la Paz Posada M (2005) Outstanding legal and ethical issues on biobanks. Instituto de Salud Carlos III, Madrid, Chapter 6
WIKI legal platform of BBMRI http://www.bbmri.eu/index.php?option=com_content&view=article&id=67&Itemid=58. Accessed 30 Dec 2012
OECD best practice guidelines for biological resource centres (2007) Chapter best practice guidelines on human-derived material. http://www.oecd.org/sti/biotechnologypolicies/38777417.pdf. Accessed 30 Dec 2012
Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn K, Antonarakis SE, Meitinger T (2009) The role of biobanking in rare diseases: European Consensus Expert Group report. Biopreserv Biobank 7(3):155–156
Lochmüller H, Schneiderat P (2010) Biobanking in rare disorders. Adv Exp Med Biol 686:105–113
RD-CONNECT: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. http://www.rd-connect.eu/. Accessed 30 Dec 2012
International Rare Disease Research Consortium. http://www.irdirc.org/. Accessed 30 Dec 2012
Rare disorders research consortium of Oregon Health & science university. http://www.ohsu.edu/xd/research/clinical-research/hgi/consortium/. Accessed 30 Dec 2012
Treat-NMD neuromuscular network. http://www.treat-nmd.eu/. Accessed 30 Dec 2012
Moore HM, Kelly AB, Jewell SD, McShane LM, Clark DP, Greenspan R, Hayes DF, Hainaut P, Kim P, Mansfield EA, Potapova O, Riegman P, Rubinstein Y, Seijo E, Somiari S, Watson P, Weier HU, Zhu C, Vaught J (2011) Biospecimen reporting for improved study quality (BRISQ) Cancer Cytopathology. Cancer Cytopathol 119(2):92–102. doi 10.1002/cncy.20147
Azimi-Nezhad M, Lambert D, Ottone C, Perrin C, Chapel C, Gaillard G, Pfister M, Masson C, Tabone E, Betsou F, Meyronet D, Ungeheuer MN, S-Siest V (2012) Influence of pre-analytical Variables on VEGF gene expression and circulating protein concentrations. Biopreserv Bioreposit 10(5):454–461
González-Gross M, Breidenassel C, Gómez-Martínez S, Ferrari M, Béghin L, Spinneker A, Díaz LE, Maiani G, Demailly A, Al-Tahan J, Albers U, Wärnberg J, Stoffel-Wagner B, Jiménez-Pavón D, Libersa C, Pietrzik K, Marcos A, Stehle P (2008) Sampling and processing of fresh blood samples within a European multicenter nutritional study: evaluation of biomarker stability during transport and storage. Int J Obes (Lond) 32(Suppl 5):S66–S75
Lehmann S, Roche S, Allory Y, Barthelaix A, Beaudeux JL, Berger F, Betsou F, Borg J, Dupuy A, Garin J, Quillard M, Lizard G, Peoc’h K, Riviere M, Ducoroy P (2009) Preanalytical guidelines for clinical proteomics investigation of biological fluids. Ann Biol Clin (Paris) 67(6):629–639, French
Stumm MM, Walker MR, Stork C, Hanoteau N, Wagner U, O’Reilly TM (2012) Validation of a postfixation tissue storage and transport medium to preserve histopathology and molecular pathology analyses (total and phosphoactivated proteins, and FISH). Am J Clin Pathol 137(3):429–436
Rai AJ, Vitzthum F (2006) Effects of preanalytical variables on peptide and protein measurements in human serum and plasma: implications for clinical proteomics. Expert Rev Proteomics 3:409–426
Policepatil SM, Caplan RH, Dolan M (2012) Hypocalcemic myopathy secondary to hypoparathyroidism. Wisc Med Soc 111(4):173–175
Amann G, Zehntner C, Marti F, Colucci G (2012) Effect of acceleration forces during transport through a pneumatic tube system on ROTEM® analysis. Clin Chem Lab Med 50(8):1335–1342
OECD best practice guidelines for biological resource centres (2007) Chapter II, p 16. http://www.oecd.org/sti/biotechnologypolicies/38777417.pdf. Accessed 30 Dec 2012
Marko-Vaga G, Végvari A, Welinder C, Lindberg H, Rezeli M, Edula G, Svensson KJ, Belting M, Laurell T, Fehniger T (2012) Standardization and utilization of biobank resources in clinical protein science with examples of emerging applications. J Proteome Res 11(11):5124–5134
Kugler KG, Hackl WO, Mueller L, Fiegl H, Graber A, Pfeiffer R (2011) The impact of sample storage time on estimates of association in biomarker discovery studies. J Clin Bioinform 1:9
P3G http://p3g.org/. Accessed 30 Dec 2012
I3-CRB http://www.i3crb.fr/. Accessed 30 Dec 2012
EuroBioBank http://www.eurobiobank.org/. Accessed 30 Dec 2012
TV GSO: Virtuel tumor bank of Canceropole GSO http://www.biobank-gso.org/apex/f?p=200:1:1682323211602182. Accessed 30 Dec 2012
Clerkin P, Buckley BS, Murphy AW, MacFarlane AE (2012) Patients’ views about the use of their personal information from general practice medical records in health research: a qualitative study in Ireland. Fam Pract. doi:10.1093/fampra/cms036
Kosseim P (2011) Banking for the future: “Informing” consent in the context of biobanks. Paper submitted at the OIV International Seminar on the UNSECO Universal Declaration on Bioethics and Human rights. http://www.priv.gc.ca/media/sp-d/2011/SP-d_20110121_pk_e.asp. Accessed 30 Dec 2012
Ensuring Consent & Revocation – A collaborative IT research project being undertaken by UK industry & academia. http://www.encore-project.info/index.html. Accessed 30 Dec 2012
Presidential Commission for the study of bioethical issues (2012) Privacy and progress in whole genome sequencing. http://bioethics.gov/cms/sites/default/files/PrivacyProgress508.pdf. Accessed 12 Dec 2012
Soto C, Tarrant C, Pritchard-Jones K, Dixon-Woods M (2012) Consent to tissue banking for research: qualitative study and recommendations. Arch Dis Child 97:632–636
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di Donato, JH. (2015). Biobanking for Rare Diseases – Impact on Personalised Medicine. In: Özgüç, M. (eds) Rare Diseases. Advances in Predictive, Preventive and Personalised Medicine, vol 6. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-9214-1_2
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DOI: https://doi.org/10.1007/978-94-017-9214-1_2
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