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Individual Phenotype Environment Genetics Epigenetics
A Deep Catalog of Human Genetic Variation
public public data data private private data data private private enrollment enrollment public public enrollment enrollment
Misuse of data?
Protect privacy while acknowledging limitations, risks?
Pillaging instead of seeding the genomic commons?
Participation. Limited / biased population?
– Ensure privacy, veracity and other norms are upheld given new technology, richer datasets (privacy, de-identification) – Use thoughtful, truly “informed” consent and risk disclosure as a means to investigate and address known and unknown risks
– Understand existing landscape and anticipate new regulation (DTC, privacy) and legal duties (incidental findings) – Resolve and develop uncertain legal framework in a way that enables public genomics
– Expand access to participation, address sample bias, pursue participant-/patient-driven agendas – Consider benefits and drawbacks of “open” and “public” genomics models
A Deep Catalog of Human Genetic Variation
public public data data private private data data private private enrollment enrollment public public enrollment enrollment
Federal Regulation Self-Regulation State Regulation Int’l Norms
A Deep Catalog of Human Genetic Variation
CLIA FDCA HIPAA GINA Common Rule GPMA?
Congress Legislates Agencies Interpret and Enforce
– Prohibited by all 50 states; 50 different standards – Corporate practice of medicine issues
– Genetic privacy statutes overlap with existing federal and state regulations of medical information – Fact specific application varies with use, e.g., clinical vs. criminal/forensic
– Regulated by roughly half of the states – Significant differences in substantive terms, application and enforcement
− Duty to warn of risks − Duty to disclose information (completely and accurately) − Duty to prevent unauthorized disclosure − Use Informed Consent to mitigate risk
− Duties to patients much greater than duties to research subjects
− Duties to third parties? − Duty to report, interpret “incidental” findings?
biopsy), saliva, hair, etc. Online Trait Questionnaires
exposures
Biological Analyses
Longitudinal Follow-Up
1. George Church, Ph.D. Professor of Genetics, Harvard Medical School 2. John Halamka, M.D. M.S. CIO and Dean for Technology, Harvard Medical School 3. Misha Angrist, Ph.D. Science editor, Duke University Institute for Genome Sciences & Policy 4. Keith Batchelder, M.D. Founder and CEO, Genomic Healthcare Strategies 5. Kirk Maxey, M.D., former CEO, Cayman Chemical 6. Esther Dyson. Genomic and biotechnology company investor and board member 7. James Sherley, M.D. Ph.D. Senior Scientist, Boston Biomedical Research Institute 8. Stephen Pinker, Ph.D. Professor of Psychology, Harvard University 9. Rosalynn Gill, Ph.D. Founder and Chief Science Officer, Sciona. 10. Stanley Lapidus. Chairman and CEO, Helicos BioSciences Corp.
5 5 4 4 3 3 2 2 1 1 9 9 8 8 7 7 6 6
10 10
− Enrollment: PGP-10 (2008), PGP-100 (ongoing) − Publication of genotype/phenotype data at http://wwww.personalgenomes.org/
− Separate pre-enrollment consent, educational tools and screening (100% req); PGP study guide − Robust informed consent and risk disclosure
− Open-source wetware (POLONATOR) and bioinformatics (Traitomatic)
Examples of Privacy Imperfections:
“Any amount of DNA data in the public domain with a name allows for identification within any anonymized data set.”
Lunshof J, Chadwick R, Vorhaus D, Church G. (2008) From Genetic Privacy to Open Consent. Nature Reviews Genetics
“Though counter-intuitive, our findings show a clear path for identifying whether specific individuals are within a study based on summary-level statistics.”
Homer N, Szelinger S, et. al. (2008) Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays. PLoS Genetics 4(8)
As genomic data transitions from SNPs to sequence, and as genotypes are increasingly correlated to phenotypes, this problem will worsen.
A Comparison of Study Consent Language:
“No personal identifying information about you will be released to anyone
authorization…”
(not publicly available)
“If you are enrolled in the PGP, genetic and trait information will not be maintained or made available in a confidential or anonymous fashion. Your genetic and trait information will be made available via a publicly accessible website and database…”
(http://www.personalgenomes.org/consent/PGP_Consent_Approved03242009.pdf)
questionnaires, etc.)
promote veracity and participant autonomy
“we cannot always foresee the results of research, so new risks may come up in the future that we cannot predict now.”
A Deep Catalog of Human Genetic Variation
From 1,000 Genomes Informed Consent Form Template (http://www.1000genomes.org/)
dvorhaus@rbh.com
http://www.genomicslawreport.com/