Managing Genomic & Health Data
A key concern in this area is the issue of privacy and the need to keep health data, including genomic data, secure. There is a need to ensure that ethical considerations related to genomic data are integrated into regulatory and operational frameworks that guide the collection, storage and processing of clinical and genomic data and its use in both clinical care and research. The tension between the need for individual privacy and the value of data sharing to enable research and new discoveries is also well understood.
Consent is a key area of work and many initiatives are looking into the use of new consent approaches such as broad and dynamic consent. Some initiatives are also considering issues such as the use of anonymization measures and adoption of processes to control access to data and place restrictions on permitted uses.
Concerns are also expressed about the safety of the increased use of medical records and cloud computing.
In terms of legal aspects there are a range of legislative requirements in different countries that are applicable when storing and using genomic and health-related data including privacy legislation, data access regulations, anti-discrimination laws and any other legislation that impact on testing, research conduct, insurance, intellectual property and the use of health records.
Resources on data sharing & consent
Lewis C, Loe BS, Sidey-Gibbons C, Patch C, Chitty LS, Sanderson SC. Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. Clinical Genetics. 2019;0(0). https://doi.org/10.1111/cge.13607 [Epub ahead of print]
Baker D, Knoppers BM, Phillips M, van Enckevort D, Kaufmann P, Lochmuller H, et al. Privacy-Preserving Linkage of Genomic and Clinical Data Sets. IEEE/ACM Trans Comput Biol Bioinform. 2018. http://doi.org/10.1109/TCBB.2018.2855125 [Epub ahead of print]
NIH National Human Genome Research Institute. 2018. Informed Consent for Genomics Research. [ONLINE] Available at: https://www.genome.gov/27559024/informed-consent-special-considerations-for-genome-research/
European Medicines Agency. 2018. International Council for Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH) E18 Guideline on genomic sampling and management of genomic data. [ONLINE] Available at: http://www.ema.europa.eu/ema/index.jsp?curl=pages/regulation/md_pharmacogenomics/general_content_001300.jsp&mid=WC0b01ac058002958e.
Joly Y., Dyke S.O.M., Knoppers B.M., Pastinen T. (2016). Are Data Sharing and Privacy Protection Mutually Exclusive? Cell, 167 (5), 1150-1154. https://doi.org/10.1016/j.cell.2016.11.004
Charlebois, K., Palmour, N., & Knoppers, B. M. (2016). The Adoption of Cloud Computing in the Field of Genomics Research: The Influence of Ethical and Legal Issues. PLoS ONE, 11(10), e0164347. https://doi.org/10.1371/journal.pone.0164347
El Emam, K., Rodgers, S., & Malin, B. (2015). Anonymising and sharing individual patient data. The BMJ, 350, h1139. http://doi.org/10.1136/bmj.h1139
Global Alliance for Genomics & Health (GA4GH). 2014. Framework for Responsible Sharing of Genomic and Health-Related Data. [ONLINE] Available at: https://www.ga4gh.org/ga4ghtoolkit/regulatoryandethics/framework-for-responsible-sharing-genomic-and-health-related-data/#appendix1.
McGuire, A. L., & Beskow, L. M. (2010). Informed Consent in Genomics and Genetic Research. Annual Review of Genomics and Human Genetics, 11, 361–381. http://doi.org/10.1146/annurev-genom-082509-141711.