Scientific Research
& Genomic Privacy
Today's Roadmap
Genomic Data
Genes, Genome
& DNA
• Genome
• 23 chromosomes
• 3 billion base
pairs
• 20,000-30,000
genes
Genetics (遺傳學)
• Study of genes
• Genotyping
Genomics (遺傳體學)
Genetics
vs.
Genomics
• Study of genome
• Sequencing
6
Whole Genome Sequencing (WGS) is Finding More Use
7
8
Precision medicine
Decline of WGS Cost
Genomic Privacy
Immutable
(Doesn't change over one's lifetime)
11
Unique for
everybody,
like
fingerprint,
12
Inherited: Passes from generation to generation
13
Window to
individual
traits (incl.
disease
risks)
14
• Dr. James Watson's disclosure of his genomic data
Mankind Does
Not Know
Enough about
Genomics Yet
• Initially, Apo-E gene blanked out
• Apo-E genes associated with Alzheimer's disease
• It was later found that alleles of Apo-E can be inferred
from other genes, due to "linkage disequilibrium"
• Other genes had to be further blanked out
15
Genomic
(Genetic)
Data
Privacy
• Unwanted disclosure of genomic
(genetic) data can be more
devastating than other types of
personal information
• Laws such as GINA (Genetic
Information Non-discrimination
Act) may not be sufficient
Unique for
everybody,
like
fingerprint,
17
Y-STR & surname
inference
• Gymrek, Melissa, Amy L. McGuire,
David Golan, Eran Halperin, and Yaniv
Erlich. "Identifying personal genomes
by surname inference." Science 339,
no. 6117 (2013): 321-324.
18
19
Genomic privacy breaching
techniques
Erlich, Yaniv, and Arvind Narayanan. "Routes for
breaching and protecting genetic privacy." Nature
reviews. Genetics 15, no. 6 (2014): 409.
20
Korea’s Regulation on
Genomic Research
Korea’s
Personal
Information
Protection Act
個人情報
保護法
• Major revision in Aug, 2020
• “Pseudonymization”/ “假名化”
introduced for the first time
Scientific Research Exemption
Under Revised Law
• Scientific research exemption
• Pseudonymized data may be processed information
without the consent of data subjects for statistical
purposes, scientific research purposes, and archiving
purposes in the public interest.
• “scientific research”?
• research that applies scientific methods, such as
technological development and demonstration,
fundamental research, applied research and privately
funded research.
Scientific Research
Exemption
• Exemptions from following
obligations
• Destruction after use
• Access by data subject
• Data subject’s right to
correction and erasure
• Data subject’s right to request
suspension of use
How is Korea’s scientific research
exemption different from GDPR?
• Scientific research exemptions under GDPR
Pseudonymization NOT a
Data subject’s
consent (Arts.
5, 6)
necessary
condition
for
Notice to data
subject when information
was not directly obtained
scientific
research
(Art. 14)
exemptions
Right to erasure (Art.
17)
• Direct exemptions under GDPR
•
•
•
• Right to object (Art. 21)
• Derogation to member state
• Right to access / request correction / request suspension of
processing / object (Art. 89.2)
保健 醫療 Data 活用 Guideline
個人情報 保護 委員會
& 保健福祉部
Pseudonymization
of Genomic Data
• Rule: Genomic data cannot be pseudonymized
• Feasibility of pseudonymization not determinable for now
• No scientific research exemptions available for genomic
research
• Consent will be the sole basis for legally processing genomic data
• Exceptions
• Genetic variant of patients with a widely-known disease
• Data should be processed at the gene-level, not loci-level
• Mutation of neoplastic cells
• The genomic information from neoplastic cells are unlikely to
lead to re-identification of data subject
Critique
• Tying of pseudonymization & scientific research
exemptions
• Bad marriage
• Scientific research exemptions should have
been more flexible like GDPR
•
E.g., cryptography as a means of safeguarding
genomic data
• Pseudonymization of genomic data may be allowed
• Additional oversight from IRB will address
concerns
Cryptographic Methods to
Safeguard Genomic Data
• homomorphic encryption
• secure multiparty computation,
• controlled functional encryption,
• Authorized Private Set Intersection(A-PSI)
Naveed M./Ayday E./Clayton E.W./Fellay J./Gunter C.A./Hubaux J.-P./Malin
B.A./Wang, X., “Privacy in the Genomic Era”, ACM Comput. Surv. Vol. 48 No.
1, 2015, pp.16–23
29
• 同意萬能主義 (“Consent cures all.”)
• Becoming a problem in Korea
Critique
• What does “informed” mean in context of genomic data?
• Harvard’s Personal Genomic Project required a
passing score on college-level genetics from
participants
Thank you!