Meyer rsf summer workshop-6-12-17 final
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Ethics lecture at Russell Sage Foundation Summer Institute for Social Science Genomics, June 12, 2017, Santa Barbara.
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Meyer rsf summer workshop-6-12-17 final
- 1. INCLUDING GENOMICS IN SOCIAL SCIENCE RESEARCH: ETHICAL ISSUES Assistant Professor; Associate Director, Research Ethics Center for Translational Bioethics & Health Policy, Geisinger Health System Michelle N. Meyer, PhD, JD
- 2. Agenda 1. Background: current controversies in genetics/genomics research & the 2018 Common Rule 2. Why worry about behavioral genomics research (BGR)? 3. Given the worries, why conduct BGR? 4. From whether to how: responsible conduct of BGR
- 3. The Havasupai Tribe Case • Oral discussion: diabetes study • Written consent: “study causes of behavioral/medical disorders” • Allegedly studied: schizophrenia, consanguinity, population migration • Lawsuit: • $1.7m litigation costs • $700,000 settlement • Returned 151 remaining
- 4. Dried Blood Spots (DBS) In many states, residual DBS stored for wide range of secondary research w/o parental consent or knowledge E.g., TX: 800 non-identified samples given to US Armed Forces Lab to help determine population-level variation in DNA among different ethnic groups Critics: a government database for eugenics, healthcare rationing MN lawsuit settlement: state returned DBS & destroyed records TX lawsuit settlement: state destroyed 5m samples Federal Newborn Screening Saves Lives Reauthorization Act of 2014: DBS research is HSR; DBS collected after 3/18/15 required consent pending new Common Rule
- 5. Henrietta Lacks & HeLa Cells
- 6. Re-Identification Risk: Governor Weld (1997) Sweeney, L. k-anonymity: a model for protecting privacy. International Journal on Uncertainty, Fuzziness and Knowledge-based Systems, 10 (5), 2002; 557- 570. Barth-Jones, DC ., The 'Re-Identification' of Governor William Weld's Medical Information: A Critical Re-Examination of Health Data Identification Risks and Privacy Protections, Then and Now (July 2012), http://ssrn.com/abstract=2076397
- 11. Y-STR DNA Sequences (2013)
- 12. Y-STR DNA Sequences (2013) https://personal.broadinstitute.org/gymrek/Venter/VenterSurnameRecovery
- 14. Applicability of 2016 Common Rule Identifiable Non-identifiable BiospecimeData Identifiable Non-identifiable BiospecimensData ?! • For secondary research, a lot hinges on identifiability • Weak definition of “identifiable”: readily ascertainable (re-ID concerns) Applicability of NPRM
- 15. “Most notably, the new rule does not adopt the proposal to cover researchers’ use of unidentified biospecimens…and to require informed consent for such research. This proposal generated far more comments than any other, and by a substantial margin those comments opposed the proposal. Commenters in every category — institutions, researchers, people working in programs that protect research participants, and people with no employment connection to the research world — expressed concern that implementing this proposal could significantly harm the ability to do important research, without producing any substantial off- setting benefits. The public response was particularly noteworthy, given that the premise behind the proposal was specifically tied to public sentiment: the NPRM had stated that continuing to allow research on unidentified biospecimens without consent would place ‘the publicly-funded research establishment in an increasingly untenable position because it is not consistent with the majority of the public’s wishes.’ That premise now seems questionable.”
- 16. Applicability of 2018 Common Rule Identifiable Non-identifiable BiospecimeData Agencies, in consultation w/experts, shall w/in 1 year & at least every 4 years thereafter… If permitted by law, agencies may alter interpretation of “identifiable,” including through guidance 1) Reexamine meaning of “identifiable” 2) Assess if technologies/techniqu es (e.g., WGS) create per se identifiable data Any such tech placed on list published in Fed Reg for public notice & comment “recommendations might accordingly be made” to require consent
- 17. Why Worry About BGR?
- 18. In addition to autonomy/privacy… Misunderstandin gs Misapplications
- 19. Pseudo-Scientific Explanations for Socioeconomic Phenomena
- 23. Given the worries… …why conduct BGR?
- 24. Why Conduct BGR? Potential benefits of BGR Demonstrating limits of biological influence
- 26. Why Conduct BGR? Potential benefits of BGR Demonstrating limits of biological influence Controlling genetic variation to better evaluate effective environmental interventions Increased knowledge of biological pathways BUT: do all really benefit? Costs of well-intentioned researchers not conducting BGR Forgo above benefits Cede territory to less scrupulous researchers/funders Have we overestimated some costs of BGR?
- 28. — Special Report, The Genetics of Intelligence: Ethics and the Conduct of Trustworthy Research, Hastings Center Report (2015)
- 30. Given the worries… …the conduct of BGR must be responsible
- 31. Be Proactive • Ask about purpose (w/in limits) • Study design • Data sharing • Replication • Science communication • Hyping results emphasizing limitations • Active communication of what results do—& don’t—mean • Seek out responsible science journalists • Correct media errors
- 32. Responsible Conduct of BGR
- 33. Responsible Conduct of BGR
- 34. Responsible Conduct of BGR Nature (2013)
- 35. Responsible Conduct of BGR Hastings Center Report (2015)
- 36. Questions?
Editor's Notes
- ~650 members Isolated part of Grand Canyon 1991 incidence of type 2 diabetes: 55% w, 38% m Tribe approached ASU about diabetes; took blood from ~400/650
- Guthrie heel pricks for neonatal health screening
- Cervical tumor cells removed during clinical procedure & used to create “immortal” cell line (HPV) w/o knowledge or consent Cells NOT de-identified (labeled HeLa) privacy issues for descendants Neither Lacks nor descendants compensated; lack access to most health care (Researchers approached descendants for tissue samples — at best, profound communication gaps; at worst, false pretenses) ALL of us have had leftover clinical tissue used in research w/o consent
- In mid-90s, MA Group Ins Commission released data on individual hosp visits by state e’ees to aid research Gov. Bill Weld assured e’ees their data had been “anonymized”—all identifiers (name, address, SSN) removed 1996: Weld collapsed at event, admitted to hosp Sweeney, then MIT grad student, set out to show she could re-ID his admission record At time, most states collected hosp discharge data containing no identifiers (names or addresses) but quasi-identifiers (full zip, full DOB, sex) Cambridge voter registration, $20, also contains those quasi-identifiers sent Weld’s health records (which included diagnoses & prescriptions) to Gov’s office Direct influence on development of de-identification provisions in HIPAA’s 2003 Privacy Rule Paper estimated 87% U.S. pop re-identifiable by zip5, DOB, sex
- 1000 Genomes Project: open online database of (as it turns out) 2500 “unidentified” sequenced genomes Yaniv re-identified 5 men who had also participated in a study of Mormon families in Utah 1) Profile Y-STR profile of a 1000 Genomes participant 2) search it against a genetic genealogy database that stores user Y-STR profiles connected to user’s last name to try to find surname match By identifying short tandem repeats on the Y chromosome Those 5
- 1000 Genomes Project: open online database of (as it turns out) 2500 “unidentified” sequenced genomes Yaniv re-identified 5 men who had also participated in a study of Mormon families in Utah 1) Profile Y-STR profile of a 1000 Genomes participant 2) Search it against a genetic genealogy database that stores user Y-STR profiles connected to user’s last name to try to find surname match (eg Ysearch) Those 5
- Federally conducted or funded human subjects research (HSR) HSR conducted at institution that “checked the box” on its FWA HSR conducted at institution w/policy of subjecting all HSR to IRB review
- Given concern about reID & also about autonomy & group harm regardless of ID… …NPRM proposed consent for all biospecimens research, regardless of identifiability But not study-specific consent (infeasible); broad consent for storage of tissue for future research
- Status quo for nonidentified/iable specimens/data…for now Last box: Doesn’t necessary follow from fact that something produces identifiable data that requires broad consent (specific consent, notice & opt-out, just notice, or just data protection measures) Could easily result in Alternative A or B or even main proposal—accomplishing entirely or almost entirely outside rulemaking process what they couldn’t accomplish inside it Identifiability continues to be lynchpin, but definition now unstable
- Misunderstandings of self & others (stigma, biological determinism, victim-blaming) Misapplications (discrimination, resource allocation, criminal justice)
- Buck v. Bell an unsuccessful Sup Ct challenge to VA’s state sterilization law; never overturned, law not repealed until 1974 3 generations, no imbeciles: “feeblemindedness”: catch-all term for society’s untouchables Used veneer of science to justify & reinforce cultural biases Rather, poverty, prostitution driven by socioeconomic desperation, rape State sterilization laws: took decades before no longer enforced, even longer before being taken off the books, & longer still (i.e., ongoing) for victims to be compensated
- Even if we’re talking about real, rather than pseudo, science, it can have outsized influence For whatever reason, we tend to think that biological explanations are more persuasive than environmental ones That is, we tend to think that it is certain rather than probabalistic Immutable rather than plastic Causative rather than correlative (hence double-edged sword of biology-based crim just defenses: lower culpability but future dangerousness) Very sticky beliefs
- And so when we focus on biology tends to bring focus on individuals rather than on environmental contributions, including systemic ones Can be a distraction Here’s an analogy Neoliberalism, victim-blaming
- New eugenics isn’t state controlled but works via parental choice However, people aren’t equal in their means to make the choice (could exacerbate gap b/w haves & have-nots) Permanently changing the human race
- Given the worries… “Controlling genetic variation to better test environmental interventions” sometimes said we already know what environmental interventions are4 needed so we should just do that Overconfident that we always know exactly what will work, what will work most effectively, & what will work most cost-effectively
- Sometimes, the resistance comes partly from misunderstanding of the phenotype or GxE interaction IQ isn’t immutable; if you think it is, research showing ind diffs in IQ is threatening
- Given the worries… “Controlling genetic variation to better test environmental interventions” sometimes said we already know what environmental interventions are4 needed so we should just do that Overconfident that we always know exactly what will work, what will work most effectively, & what will work most cost-effectively
- What does that mean?
- Most scientists tend to want to separate their work from downstream interpretations & applications of it But this isn’t a case where that’s appropriate “ask Qs”: limitsnot all rsch is hypoth-driven & some imp discovs results of serendipity “Study design”: rsch risks only justified by expected bens, if at all, if study is well-designed to answer Q it asksapprop powered, etc. “Data sharing & replic”: already an eth oblig but esp important here where results may be controversial Sci comm: RFP + prof pubs/presentations + media wrds matter RFP asks applicants to explain open sci plans maybe ask to expl resp comm plans, too
- In conclusion, a few comments about how SSGAC has approached sci comm
- Emphasize genes aren’t destiny, aren’t whole story debias using concrete examples Destiny vs. predisposition, i.e., penetrance (e.g., HD model) 1-1 gene-phenotype vs. polygenic architecture Even if genes don’t change, environmental interventions can change the effects of genes (e.g., eyeglasses, PKU diet) Effect size In Sweden, effect of edu att SNPs on edu att only ½ as strong after various edu reforms were enacted Enviro changes can have direct, significant impact on phenotypes (e.g., height is highly heritable, but nutrition