Biobanking for Personalized Medicine.

A biobank is an entity that collects, processes, stores, and distributes biospecimens and relevant data for use in basic, translational, and clinical research. Biobanking of high-quality human biospecimens such as tissue, blood and other bodily fluids along with associated patient clinical information provides a fundamental scientific infrastructure for personalized medicine. Identification of biomarkers that are specifically associated with particular medical conditions such as cancer, cardiovascular disease and neurological disorders are useful for early detection, prevention, and treatment of the diseases. The ability to determine individual tumor biomarkers and to use those biomarkers for disease diagnosis, prognosis and prediction of response to therapy is having a very significant impact on personalized medicine and is rapidly changing the way clinical care is conducted. As a critical requirement for personalized medicine is the availability of a large collection of patient samples with well annotated patient clinical and pathological data, biobanks thus play an important role in personalized medicine advancement. The goal of this chapter is to explore the role of biobanks in personalized medicine and discuss specific needs regarding biobank development for translational and clinical research, especially for personalized medicine advancement.

[1]  D. Kerr,et al.  Predictive biomarkers: a paradigm shift towards personalized cancer medicine , 2011, Nature Reviews Clinical Oncology.

[2]  D. Larsimont,et al.  The role of the pathologist in tissue banking: European Consensus Expert Group Report , 2010, Virchows Archiv.

[3]  Steven J. M. Jones,et al.  Comprehensive molecular characterization of human colon and rectal cancer , 2012, Nature.

[4]  Waqas Amin,et al.  An informatics supported web-based data annotation and query tool to expedite translational research for head and neck malignancies , 2009, BMC Cancer.

[5]  Patricia L. Harris,et al.  Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. , 2004, The New England journal of medicine.

[6]  Angen Liu.  Developing an institutional cancer biorepository for personalized medicine. , 2014, Clinical biochemistry.

[7]  Lee T. Sam,et al.  Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study , 2011, Science Translational Medicine.

[8]  Alexandar Tzankov,et al.  Tissue microarray technology: principles, pitfalls and perspectives—lessons learned from hematological malignancies , 2005, Experimental Gerontology.

[9]  R. Walker,et al.  RNA integrity in post mortem human variant Creutzfeldt–Jakob disease (vCJD) and control brain tissue , 2011, Neuropathology and applied neurobiology.

[10]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[11]  Katherine C Sexton,et al.  Development of the ISBER Best Practices for Repositories: Collection, Storage, Retrieval and Distribution of Biological Materials for Research. , 2012, Biopreservation and biobanking.

[12]  Marc Buyse,et al.  Adjuvant trastuzumab in HER2-positive breast cancer. , 2011, The New England journal of medicine.

[13]  C. Compton,et al.  Biobankonomics: developing a sustainable business model approach for the formation of a human tissue biobank. , 2011, Journal of the National Cancer Institute. Monographs.

[14]  Nicholas R. Anderson,et al.  Biotrust: a comprehensive system for acquiring and distributing biospecimens. , 2013, AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science.

[15]  William E Grizzle,et al.  Standard operating procedures for serum and plasma collection: early detection research network consensus statement standard operating procedure integration working group. , 2009, Journal of proteome research.

[16]  Robert C. Green,et al.  Managing incidental findings and research results in genomic research involving biobanks and archived data sets , 2012, Genetics in Medicine.

[17]  R. Wilson,et al.  EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[18]  K. Zatloukal,et al.  Human tissue biobanks as instruments for drug discovery and development: impact on personalized medicine. , 2010, Biomarkers in Medicine.

[19]  J. Greenspan,et al.  Biobanking past, present and future: responsibilities and benefits. , 2013, AIDS.

[20]  M. Rubin,et al.  Next-generation Prostate Cancer Biobanking: Toward a Processing Protocol Amenable for the International Cancer Genome Consortium , 2012, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

[21]  B. Weimer,et al.  High-Throughput Analysis of Foodborne Bacterial Genomic DNA Using Agilent 2200 TapeStation and Genomic DNA ScreenTape System , 2015 .

[22]  R. Tracy,et al.  Longitudinal Stability of Coagulation, Fibrinolysis, and Inflammation Factors in Stored Plasma Samples , 2001, Thrombosis and Haemostasis.

[23]  T. Holzer,et al.  Ischemic time impacts biological integrity of phospho-proteins in PI3K/Akt, Erk/MAPK, and p38 MAPK signaling networks. , 2011, Anticancer research.

[24]  D. Silverman,et al.  Correlation of LINE-1 Methylation Levels in Patient-Matched Buffy Coat, Serum, Buccal Cell, and Bladder Tumor Tissue DNA Samples , 2012, Cancer Epidemiology, Biomarkers & Prevention.

[25]  Falko Fend,et al.  Laser capture microdissection in pathology , 2000, Methods in enzymology.

[26]  Ronglai Shen,et al.  Changes in differential gene expression because of warm ischemia time of radical prostatectomy specimens. , 2002, The American journal of pathology.

[27]  Kip Nalley,et al.  Tissue Banking, Bioinformatics, and Electronic Medical Records: The Front-End Requirements for Personalized Medicine , 2013, Journal of oncology.

[28]  W. Grizzle,et al.  The pathologist's role in the use of human tissues in research--legal, ethical, and other issues. , 1996, Archives of pathology & laboratory medicine.

[29]  K. Weinfurt,et al.  Developing a Simplified Consent Form for Biobanking , 2010, PloS one.

[30]  H. Lai,et al.  A research-based tumor tissue bank of gynecologic oncology: characteristics of nucleic acids extracted from normal and tumor tissues from different sites , 2001, International Journal of Gynecologic Cancer.

[31]  K. Flaherty,et al.  BRAF targeted therapy changes the treatment paradigm in melanoma , 2011, Nature Reviews Clinical Oncology.

[32]  L. Kwak,et al.  Detection of tumor messenger RNA in the serum of patients with malignant melanoma. , 1999, Clinical cancer research : an official journal of the American Association for Cancer Research.

[33]  Katherine C. Sexton,et al.  Quality Assurance in Tissue Resources Supporting Biomedical Research. , 2008, Cell preservation technology.

[34]  C. Rudin,et al.  Crizotinib in the treatment of non-small-cell lung cancer , 2012, Expert opinion on pharmacotherapy.

[35]  Thomas Ragg,et al.  The RIN: an RNA integrity number for assigning integrity values to RNA measurements , 2006, BMC Molecular Biology.

[36]  Stanley J. Watson,et al.  Methodological considerations for gene expression profiling of human brain , 2007, Journal of Neuroscience Methods.

[37]  H. D. Rosas,et al.  Optimization of an HTRF Assay for the Detection of Soluble Mutant Huntingtin in Human Buffy Coats: A Potential Biomarker in Blood for Huntington Disease , 2010, PLoS currents.

[38]  Charles Auffray,et al.  Towards standardization of RNA quality assessment using user-independent classifiers of microcapillary electrophoresis traces , 2005, Nucleic acids research.

[39]  C. Compton,et al.  Biobankonomics: a taxonomy for evaluating the economic benefits of standardized centralized human biobanking for translational research. , 2011, Journal of the National Cancer Institute. Monographs.

[40]  Benjamin J. Raphael,et al.  Integrated Genomic Analyses of Ovarian Carcinoma , 2011, Nature.

[41]  V. Velculescu,et al.  Blood-based analyses of cancer: circulating tumor cells and circulating tumor DNA. , 2014, Cancer discovery.

[42]  Steven J. M. Jones,et al.  Comprehensive molecular portraits of human breast tumors , 2012, Nature.

[43]  J. Kononen,et al.  Tissue microarrays for high-throughput molecular profiling of tumor specimens , 1998, Nature Medicine.

[44]  P. Elliott,et al.  The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine. , 2008, International journal of epidemiology.

[45]  M. Casanova,et al.  Biological stability of mRNA isolated from human postmortem brain collections , 1993, Biological Psychiatry.

[46]  Euan A Ashley,et al.  Clinical interpretation and implications of whole-genome sequencing. , 2014, JAMA.

[47]  Frances P Lawrenz,et al.  Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations , 2008, The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics.

[48]  M. Watson,et al.  A new paradigm for biospecimen banking in the personalized medicine era. , 2011, American journal of clinical pathology.

[49]  D. Larsimont,et al.  Pathology as the cornerstone of human tissue banking: European consensus expert group report. , 2009, Biopreservation and biobanking.

[50]  S. Baumann,et al.  Standardized approach to proteome profiling of human serum based on magnetic bead separation and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. , 2005, Clinical chemistry.

[51]  Steven J. M. Jones,et al.  Comprehensive molecular characterization of clear cell renal cell carcinoma , 2013, Nature.

[52]  Christine Weiner,et al.  Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues). , 2014, American journal of epidemiology.

[53]  Brenda Eskenazi,et al.  Biological sample collection and processing for molecular epidemiological studies. , 2003, Mutation research.

[54]  R. Crystal,et al.  Quality control in microarray assessment of gene expression in human airway epithelium , 2009, BMC Genomics.

[55]  Steven J. M. Jones,et al.  Comprehensive genomic characterization of squamous cell lung cancers , 2012, Nature.

[56]  A. Hauschild,et al.  Improved survival with vemurafenib in melanoma with BRAF V600E mutation. , 2011, The New England journal of medicine.

[57]  G. Hostetter,et al.  Veterinary and Human Biobanking Practices , 2014, Veterinary pathology.

[58]  K. Manchester.  Use of UV methods for measurement of protein and nucleic acid concentrations. , 1996, BioTechniques.

[59]  Michael W Pfaffl,et al.  RNA integrity and the effect on the real-time qRT-PCR performance. , 2006, Molecular aspects of medicine.

[60]  Timothy F Cloughesy,et al.  The procurement, storage, and quality assurance of frozen blood and tissue biospecimens in pathology, biorepository, and biobank settings. , 2014, Clinical biochemistry.