Presentation at the 8th OpenAIRE workshop - Panel: The Infrastructures: services and tools.

1. Sharing sensitive
genomic human data
Jordi Rambla

2. Hi! I’m
sequencing
Hi! I’m
sequencing,
too
Great!
Let’s share
and compare!
My genome is rare!
How you dare to
share! (and compare)
Data sharing is wonderful…
but, some data is sensitive

3. thus, we put data under custody

4. EGA as an
example for
controlled access
The EGA is a resource for permanent secure
archiving and sharing of all types of potentially
identifiable genetic and phenotypic data resulting
from biomedical research projects.
4
Data is provided by
research centers and
health care institutions.
Access is controlled by
Data Access Committees.
Data requesters are
researchers from other
research or health care
institutions.

5. …well, with the right tools, safety is gone.
AMIA Jt Summits Transl Sci Proc 2016 Aug 31;2016:122-31. eCollection 2016.
On the privacy risks of sharing clinical proteomics data. Li S, Bandeira N, Wang X, Tang H.
maybe, safety is in numbers…
(what if we just share aggregated data?)

6. or to keep it private because
genomics could lead to
individual identification?
to share info for increasing
the “sample size”?
The “Sharing dilemma”
http://louiscyr.connexion-lanaudiere.ca/

7. Brimsilomural,paintedbyGuidovanHelteninDecember2015[Image©BruceRMitchell2016]
Circles of trust, connected silos…

8. the GA4GH
(a community initiative)
• File Formats (BAM, VCF…)
• APIs
• Security recommendations
• Metadata standards
• Genotype to Phenotype
(G2P)
• Unified and “consensus”
Donor Consent Agreements
• PoC Projects (e.g. Beacon)

9. Table 1. Data use categories and requirements (Consent Codes): definition and abbreviation.
Dyke SOM, Philippakis AA, Rambla J, Paltoo DN, Luetkemeier ES, et al. (2016) Consent
Codes: Upholding Standard Data Use Conditions. PLoS Genet 12(1): e1005772.
doi:10.1371/journal.pgen.1005772
http://journals.plos.org/plosgenetics/article?id=info:doi/10.1371/journal.pgen.1005772

10. Avoiding the “all or nothing” approach…

11. THANKS!
11
And infrastructure support from the following sources:
Core organizations:
Additional sources: