1 ethical issues in genomics research bernard lo, m.d. march 3, 2009
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Ethical issues in genomics research
Bernard Lo, M.D.
March 3, 2009
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Study of predisposition to prostate cancer
Carry out genome-wide analyses
Use as controls men who were
subjects of study on diabetes
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Additional research questions
Do controls develop disease?
Do those with SNPs have higher risk of
developing disease?
What genes predict better prognosis or
response to treatment?
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Ethical concerns
1. Can you share genome-wide data
with other researchers?
2. Are de-identified samples and
sequences rendered identifiable by
whole genome sequencing?
3. Can you use existing data for
additional research without consent?
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Ethical concerns
4. Can you follow participants as prospective
cohort using medical records without
consent? Need identifiers Link to cancer regsitry, Medicare claims
databases
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Review of ethical issues
1. Risk/ benefit balance must be
acceptable Risks must be minimized Confidentiality is main concern
2. Informed consent Exception for de-identified data or waiver
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Confidentiality
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Special concerns about genetic confidentiality
Information considered particularly
sensitive About relatives and groups Highly predictive of future illness
• “Future diaries”
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Special concerns about genetic confidentiality
Sensitive research projects Genetics of antisocial behavior Human evolution Beliefs about group ancestry Some participants may object
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Breaches of confidentiality
Stolen or lost laptops with identifiable
data
Bankruptcy
Although low probability, large impact
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Genetic Information Nondiscrimination Act (2008)
Remove barriers to genetic testing
Health insurers may not Use genetic information to set eligibility or
premiums Require or request genetic testing
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Genetic Information Nondiscrimination Act (2008)
Employers may not Use genetic information in employment or
promotion decisions Require or request genetic testing
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Limitations of GINA
After job offer, employer may request
medical records Impractical to delete genetic information
Not apply to disability, life, long-term
care insurance Adverse selection if individual rating
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HIPAA and research
Must get authorization to use
identifiable health information For each specific research study
• No future authorization May waive authorization Limited data set
De-identified data exempt
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What are de-identified data?
18 specific identifiers Overt identifiers Geographic data more precise than first 3
digits of zip code Dates except for year Biometric identifiers Any other unique identifying characteristic
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Impact of HIPAA on research
More difficult to recruit participants
Increased selection bias
Made use of existing specimens more
difficult
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HIPAA fails to protect privacy
Poor oversight of research Weak security protections
Applies only to covered entities
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HIPAA fails to protect privacy
Protection does not follow information
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Privacy concerns about sharing sequencing data
Identify individual from pooled specimens
Re-identification of de-identified specimens
Use in objectionable studies Cannot withdraw from research once data
are released
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Re-identification of genome-wide association subjects
Reference samples in forensic
databases DOJ has 6.2 million profiles STRs at 13 locations Full genome sequence can be matched Although low probability, high impact
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Re-identification of genome-wide association subjects
What additional protections might
make risk of re-identification minimal? Explicit ban Strengthen protections for databases that
contain identifiers
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Sharing genomic sequence data
Data use agreement Restrict future uses
Restrict access to whole-genome data Access only at certain sites Not download data from site NIH biostatistician to do analyses
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Sharing of genomic sequence data
Tradeoffs between research efficiency
and privacy
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Use of existing samples in research
Value for research
No consent required if anonymized (de-
identified)
General consent for unspecified future
research or genetic research suffices
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Ethical rationale for waiver or general consent
Very low risk
No participant would object
May not be appropriate for sensitive
genomic studies
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Problems with general consentif not understand
Whole genome sequencing
Dissemination of data
Not feasible to withdraw from research
Possibility of re-identification
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Problems with general consentif not understand
Intention to patent discoveries
Income from licensing and royalties
Future studies that might be
considered objectionable
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Recommendations for consent
Explicit consent for Whole genomic sequencing Dissemination of sequencing data
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Recommendations for consent
Explicit consent for Patents arising from discoveries
• Specify financial arrangements
• Sharing with individual donors not feasible
• May need to negotiate with advocacy groups who recruited donors
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Recommendations for consent
Explicit consent for Future studies
• Consent for all studies approved by IRB or oversight committee
• Require specific consent for highly sensitive studies
• Permission to recontact for sensitive studies
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Recommendations for consent
Tradeoff between research efficiency
and respect for donors
Researchers may exclude those who
do not accept these conditions
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Reforming HIPAA
IOM report “Beyond the HIPAA Privacy
Rule: Enhancing Privacy, Improving
Health through Research
http://www.iom.edu/CMS/3740/43729/61796.aspx
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Conclusion
Privacy Rule does not protect privacy
and impedes important research
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New Framework
Congress should authorize new
approach to ensuring privacy that
would apply to all health research
Enhance privacy through improved
security, transparency, accountability
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Recommendations
Revise provisions of Privacy Rule that
hinder research but do not provide
meaningful protections
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Recommendations
Encourage use of limited data sets Make data use agreements more efficient
and effective
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Recommendations
Facilitate use of existing data Allow future research with IRB oversight Allow linking data from multiple sources
• Certify trusted intermediaries, who then give researchers de-identified data sets
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Recommendations
Clarify if DNA sequences are
considered identifiable
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Recommendations
Stronger security protections Encryption IRB to include security expert Penalties for attempted re-identification Notify participants of breaches
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Recommendations
Inform participants and public of
research results and their importance
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Take home points
Resolving ethical issues is crucial for
genomics research to proceed
Scientists need to be involved in
addressing ethical issues
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