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Biobanks in the Era of Genomic Data

  • Counseling and Testing (C Reiser and C Walton, Section Editors)
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Abstract

Purpose of Review

Biobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery, prevention, diagnosis, and treatment. This mini-review addresses the importance of governance issues regarding consent, privacy and confidentiality, data sharing, and return of results in biobanks that utilize genomic sequencing data.

Recent Findings

With the availability of genomic sequencing data, there is renewed attention to the value of biobank research. Governance components of consent, data sharing, privacy protections, and disclosure of research results vary widely among biobanks currently established. There is no consensus standard of best practice for managing genomic data regardless of the biobank infrastructure.

Summary

Understanding the various biobank research program components will aid genetics providers and other healthcare providers as they interact with biobank researchers and participants. Governance structures for biobanks will need to be informed by the engagement of participants, researchers, and regulatory agencies. Education concerning the importance of biobank research, transparency of governance structure, and the relationship of genomic data to the improvement of individual health is critical to support continued biobank research.

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References

Papers of particular interest, published recently, have been highlighted as: •• Of major importance

  1. Husedzinovic A, Ose D, Schickhardt C, Fröhling S, Winkler EC. Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature. Eur J Hum Genet. 2015;23(12):1607–14. https://doi.org/10.1038/ejhg.2015.27.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Bledsoe MJ. Ethical legal and social issues of biobanking: past, present, and future. Biopreserv Biobank. 2017;15:142–7.

    Article  PubMed  Google Scholar 

  3. Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AHM, Aufox SA, et al. Public attitudes toward consent and data sharing in biobank research: a large multi-site experimental survey in the US. Am J Hum Genet. 2017;100(3):414–27. https://doi.org/10.1016/j.ajhg.2017.01.021.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Garrison NA, Sathe NA, Antommaria AH, et al. A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States. Genet Med. 2016;18(7):663–71. https://doi.org/10.1038/gim.2015.138.

    Article  CAS  PubMed  Google Scholar 

  5. Kinkorova J. Biobanks in the era of personalized medicine: objectives, challenges, and innovation: overview. EPMA J. 2016;7:4. https://doi.org/10.1186/s13167-016-0053-7 eCollection 2015.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Vaught J, Lockhart NC. The evolution of biobanking best practices. Clin Chim Acta. 2012;413(19–20):1569–75. https://doi.org/10.1016/j.cca.2012.04.030.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. 2012 best practices for repositories collection, storage, retrieval, and distribution of biological materials for research international society for biological and environmental repositories. Biopreserv Biobank. 2012;10(2):79–161. https://doi.org/10.1089/bio.2012.1022.

  8. Campbell LD, Astrin JJ, DeSouza Y, Giri J, Patel AA, Rawley-Payne M, et al. The 2018 revision of the ISBER best practices: summary of changes and the editorial team’s development process. Biopreserv Biobank. 2018;16(1):3–6. https://doi.org/10.1089/bio.2018.0001.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Rothstein MA, Knoppers BM, Harrell HL. Comparative approaches to biobanks and privacy. J Law Med Ethics. 2016;44(1):161–72. https://doi.org/10.1177/1073110516644207.

    Article  PubMed  Google Scholar 

  10. Nagai A, Hirata M, Kamatani Y, et al. Overview of the BioBank Japan project: study design and profile. J Epidemiol. 2017;27(3S):S2–8. https://doi.org/10.1016/j.je.2016.12.005.

    Article  PubMed  PubMed Central  Google Scholar 

  11. https://www.decode.com/ Accessed 5.29.2019.

  12. https://www.ukbiobank.ac.uk/ Accessed 5.29.2019.

  13. https://www.geenivaramu.ee/en Accessed 5.29.2019.

  14. https://allofus.nih.gov/about/program-partners/biobank Accessed 5.29.2019.

  15. https://www.geisinger.org/mycode Accessed 5.29.2019.

  16. https://victr.vanderbilt.edu/pub/biovu/ Accessed 5.29.2019.

  17. https://icahn.mssm.edu/research/ipm/programs/biome-biobank Accessed 5.29.2019.

  18. https://www.mayo.edu/research/centers-programs/mayo-clinic-biobank/overview Accessed 5.29.2019.

  19. Abul-Husn NS, Kenny EE. Personalized medicine and the power of electronic health records. Cell. 2019;177(1):58–69. https://doi.org/10.1016/j.cell.2019.02.039.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. https://emerge.mc.vanderbilt.edu/. Accessed 5.29.2019.

  21. McCarty CA, Chisholm RL, Chute CG, et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011;4:13. Published 2011 Jan 26. https://doi.org/10.1186/1755-8794-4-13.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Gottesman O, Kuivaniemi H, Tromp G, et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med. 2013;15(10):761–71. https://doi.org/10.1038/gim.2013.72.

    Article  PubMed  PubMed Central  Google Scholar 

  23. https://www.phekb.org/ Accessed 5.29.2019.

  24. Williams MS, Buchanan AH, Davis FD, et al. Patient-Centered Precision Health in a Learning Health Care System: Geisinger’s Genomic Medicine Experience. Health Affairs. 2018;37(5):757–64. https://doi.org/10.1377/hlthaff.2017.1557 This article addresses the foundations of utilizing implementation science in the context of a learning healthcare system to launch a genomics program that incorporates patient centeredness and principles of iterative evaluation to support ongoing practice improvement.

    Article  PubMed  Google Scholar 

  25. Chen Z, Chen J, Collins R, et al. China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up. Int J Epidemiol. 2011;40(6):1652–1666. https://doi.org/10.1093/ije/dyr120.

  26. Dankar FK, Gergely M, Dankar SK. Informed consent in biomedical research. Comput Struct Biotechnol J. 2019;17:463–74. Published 2019 Mar 25. https://doi.org/10.1016/j.csbj.2019.03.010.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Prictor M, Teare HJA, Kaye J. Equitable participation in biobanks: the risks and benefits of a “Dynamic Consent”. Approach Front Public Health. 2018;6:253. Published 2018 Sep 5. https://doi.org/10.3389/fpubh.2018.00253.

    Article  PubMed  Google Scholar 

  28. Teare HJ, Morrison M, Whitley EA, Kaye J. Towards ‘Engagement 2.0’: Insights from a study of dynamic consent with biobank participants [published correction appears in Digit Health. 2016;2:2055207616628802]. Digit Health. 2015;1:2055207615605644. Published 2015 Sep 28. doi:https://doi.org/10.1177/2055207615605644.

  29. Budin-Ljøsne I, Teare HJ, Kaye J, et al. Dynamic consent: a potential solution to some of the challenges of modern biomedical research. BMC Med Ethics. 2017;18(1):4. Published 2017 Jan 25. https://doi.org/10.1186/s12910-016-0162-9.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Capocasa M, Anagnostou P, D’Abramo F, et al. Samples and data accessibility in research biobanks: an explorative survey. PeerJ. 2016;4:e1613. Published 2016 Feb 25. https://doi.org/10.7717/peerj.1613.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Shi X, Wu X. An overview of human genetic privacy. Ann N Y Acad Sci. 2017;1387(1):61–72. https://doi.org/10.1111/nyas.13211.

    Article  PubMed  Google Scholar 

  32. Shabani M, Bezuidenhout L, Borry P. Attitudes of research participants and the general public towards genomic data sharing: a systematic literature review. Expert Rev Mol Diagn. 2014;14(8):1053–65. https://doi.org/10.1586/14737159.2014.961917.

    Article  CAS  PubMed  Google Scholar 

  33. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9(5):356–69. https://doi.org/10.1038/nrg2344.

    Article  CAS  PubMed  Google Scholar 

  34. Hunt LT. The life-changing magic of sharing your data. Nat Hum Behav. 2019;3(4):312–5. https://doi.org/10.1038/s41562-019-0560-3.

    Article  PubMed  Google Scholar 

  35. Taichman DB, Sahni P, Pinborg A, Peiperl L, Laine C, James A, et al. Data sharing statements for clinical trials: a requirement of the International Committee of Medical Journal Editors. JAMA. 2017;317(24):2491–2. https://doi.org/10.1001/jama.2017.6514.

    Article  PubMed  Google Scholar 

  36. Foster MW, Sharp RR. Share and share alike: deciding how to distribute the scientific and social benefits of genomic data. Nat Rev Genet. 2007;8(8):633–9. https://doi.org/10.1038/nrg2124.

    Article  CAS  PubMed  Google Scholar 

  37. Fischer BA, Zigmond MJ. The essential nature of sharing in science. Sci Eng Ethics. 2010;16:783–99. https://doi.org/10.1007/s11948-010-9239-x.

    Article  PubMed  Google Scholar 

  38. Harris JR, Burton P, Knoppers BM, Lindpaintner K, Bledsoe M, Brookes AJ, et al. Toward a roadmap in global biobanking for health. Eur J Hum Genet. 2012;20(11):1105–11. https://doi.org/10.1038/ejhg.2012.96.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Yakubu AM, Chen YP, Ensuring privacy and security of genomic data and functionalities. 2019. Brief Bioinform;1–16. doi https://doi.org/10.1093/bib/bbz013.

  40. Frizzo-Barker J, Chow-White PA, Charters A, Ha D. Genomic big data and privacy: challenges and opportunities for precision medicine. Comput Supported Coop Work. 2016. https://doi.org/10.1007/s10606-016-9248-7. Published online 04 March 2016.

  41. Clayton EW, Halverson CM, Sathe NA, Malin BA. A systematic literature review of individuals’ perspectives on privacy and genetic information in the United States. PLoS One. 2018;13(10):e0204417. https://doi.org/10.1371/journal.pone.0204417.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Wolf LE, Patel MJ, Williams Tarver BA, Austin JL, Dame LA, Beskow LM. Certificates of confidentiality: protecting human subject research data in law and practice. J Law Med Ethics. 2015;43(3):594–609. https://doi.org/10.1111/jlme.12302.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Heeney C, Kerr SM. Balancing the local and the universal in maintaining ethical access to a genomics biobank. BMC Med Ethics. 2017;18(1):–80. https://doi.org/10.1186/s12910-017-0240-7 A literature review is presented of policy relevant documents which apply to the conduct of biobanks in two areas: support for open access and the protection of data subjects and researchers managing a bioresource. It discusses limited access to protect privacy, align with participant consent, and ensure that the resource can be managed in a sustainable way.

  44. Middleton A. Society and personal genome data. Hum Mol Genet. 2018;27(R1):R8–R13. https://doi.org/10.1093/hmg/ddy084.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  45. Wolf LE, Brown EF, Kerr R, et al. The Web of Legal Protections for Participants in Genomic Research (February 4, 2019). Health Matrix: Journal of Law-Medicine, Vol. 29, 2019; Georgia State University College of Law, Legal Studies Research pp 2019–07. Available at SSRN: https://ssrn.com/abstract=3328892.

  46. Berkman BE, Miller WK, Grady C. Is it ethical to use genealogy data to solve crimes? Ann Intern Med. 2018;169:333–4. https://doi.org/10.7326/M18-1348.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Norlin L, Fransson MN, Eriksson M, et al. Biopreservation and Biobanking. Aug 2012.ahead of print https://doi.org/10.1089/bio.2012.0003.

  48. Makri E, Ardeshirdavani A, Simm J, et al. Towards practical privacy-preserving genome-wide association study. BMC Bioinf. 2018;19:537. https://doi.org/10.1186/s12859-018-2541-3.

    Article  Google Scholar 

  49. Jarvik GP, Amendola LM, Berg JS, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. American Journal of Human Genetics. 2014;94(6):818–26. https://doi.org/10.1016/j.ajhg.2014.04.009 This is a seminal article laying out considerations for returning genomic sequencing results. The guidance provides a strong foundation for developing a process infrastructure for returning results.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet. 2013;14:557–77. https://doi.org/10.1146/annurev-genom-091212-153506.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Thorogood A, Joly Y, Knoppers BM, Nilsson T, Metrakos P, Lazaris A, et al. An implementation framework for the feedback of individual research results and incidental findings in research. BMC Medical Ethics. 2014;15(1). https://doi.org/10.1186/1472-6939-15-88.

  52. Smith LA, Douglas J, Braxton AA, Kramer K. Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG recommendations into current practices of genetic counseling. J Genet Couns. 2014;24(4):654–62. https://doi.org/10.1007/s10897-014-9794-4.

    Article  PubMed  Google Scholar 

  53. Brett GR, Wilkins EJ, Creed ET, et al. Genetic counseling in the era of genomics: what’s all the fuss about? J Genet Couns. 2018;27:1010–21. https://doi.org/10.1007/s10897-018-0216-x.

    Article  PubMed  Google Scholar 

  54. Amendola LM, Lautenbach D, Scollon S, Bernhardt B, Biswas S, East K, et al. Illustrative case studies in the return of exome and genome sequencing results. Personalized Medicine. 2015;12(3):283–95. https://doi.org/10.2217/pme14.89.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Jamal SM, Yu J, Chong JX, et al. Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A. 2013;161A:935–50. https://doi.org/10.1002/j.1552-4833.2013.35942.x.

    Article  PubMed  Google Scholar 

  56. Levy KF, Blake K, Fletcher-Hoppe C, et al. Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network. Genetics in Medicine. 2018;21:743–7. https://doi.org/10.1038/s41436-018-0080-y.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW, et al. Managing incidental findings in human subjects research: analysis and recommendations. The Journal of Law, Medicine & Ethics. 2008;36(2):219–48. https://doi.org/10.1111/j.1748-720X.2008.00266.x.

    Article  Google Scholar 

  58. Parens E, Appelbaum P, Chung W. Incidental findings in the era of whole genome sequencing? Hastings Cent Rep. 2013;43(4):16–99. https://doi.org/10.1002/hast.189.

    Article  PubMed  Google Scholar 

  59. Brandt DS, Shinkunas L, Hillis SL, Daack-Hirsch SE, Driessnack M, Downing NR, et al. A closer look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs. J Genet Couns. 2013;22(4):544–53. https://doi.org/10.1007/s10897-013-9583-5.

    Article  PubMed  PubMed Central  Google Scholar 

  60. Stuckey H, Williams JL, Fan AL, Rahm AK, Green J, Feldman L, et al. Enhancing genomic laboratory reports from the patients’ view: a qualitative analysis. Am J Med Genet A. 2015;167A(10):2238–43. https://doi.org/10.1002/ajmg.a.37174.

    Article  PubMed  Google Scholar 

  61. Williams JL, Rahm AK, Stuckey H, Green J, Feldman L, Zallen DT, et al. Enhancing genomic laboratory reports: a qualitative analysis of provider review. Am J Med Genet A. 2016;170A(5):1134–41. https://doi.org/10.1002/ajmg.a.37573.

    Article  PubMed  Google Scholar 

  62. Goehringer JM, Bonhag MA, Jones LK, Schmidlen T, Schwartz M, Rahm AK, et al. Generation and implementation of a patient-centered and patient-facing genomic test report in the EHR. EGEMS (Wash DC). 2018;6(1):14. https://doi.org/10.5334/egems.256.

    Article  Google Scholar 

  63. Haga SB, Mills R, Pollak KI, Rehder C, Buchanan AH, Lipkus IM, et al. Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding. Genome Medicine. 2014;6(7):58. https://doi.org/10.1186/s13073-014-0058-6.

    Article  PubMed  PubMed Central  Google Scholar 

  64. Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, et al. Refining the structure and content of clinical genomic reports. American Journal of Medical Genetics C Seminars in Medical Genetics. 2014 Mar;166C(1):85–92. https://doi.org/10.1002/ajmg.c.31395.

    Article  Google Scholar 

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Authors and Affiliations

  1. Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA

    Juliann Savatt

  2. Genomic Medicine Institute, Geisinger, Danville, PA, USA

    Cassandra J. Pisieczko, Yanfei Zhang, Ming Ta Michael Lee, W. Andrew Faucett & Janet L. Williams

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Correspondence to Janet L. Williams.

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Conflict of Interest

Andrew Faucett reports personal fees as a consultant for The University of Pennsylvania and a grant from Regeneron, outside of submitted work.

Juliann Savatt, Cassandra J. Pisieczko, Yanfei Zhang, Ming Ta Michael Lee, and Janet L. Williams each declare no potential conflicts of interest.

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Savatt, J., Pisieczko, C.J., Zhang, Y. et al. Biobanks in the Era of Genomic Data. Curr Genet Med Rep 7, 153–161 (2019). https://doi.org/10.1007/s40142-019-00171-w

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