Biobanks in the Era of Genomic Data
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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.
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.
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.
KeywordsBiobank governance Genomic data sharing Genomic privacy Biobank consent Return of research results
Compliance with Ethical Standards
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.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: •• Of major importance
- 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.CrossRefGoogle 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.
- 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.
- 20.https://emerge.mc.vanderbilt.edu/. Accessed 5.29.2019.
- 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.CrossRefGoogle 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.
- 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.
- 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.
- 42.••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.
- 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.
- 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.••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.CrossRefGoogle 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.CrossRefGoogle 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.CrossRefGoogle 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.CrossRefGoogle Scholar