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1 Ethical issues in genomics research Bernard Lo, M.D. March 3, 2009
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2 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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3 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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4 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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5 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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6 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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8 Confidentiality
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9 Special concerns about genetic confidentiality Information considered particularly sensitive About relatives and groups Highly predictive of future illness “Future diaries”
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10 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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11 Breaches of confidentiality Stolen or lost laptops with identifiable data Bankruptcy Although low probability, large impact
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13 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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14 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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15 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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16 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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17 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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18 Impact of HIPAA on research More difficult to recruit participants Increased selection bias Made use of existing specimens more difficult
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19 HIPAA fails to protect privacy Poor oversight of research Weak security protections Applies only to covered entities
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21 HIPAA fails to protect privacy Protection does not follow information
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23 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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25 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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26 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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27 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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28 Sharing of genomic sequence data Tradeoffs between research efficiency and privacy
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30 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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31 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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32 Problems with general consent if not understand Whole genome sequencing Dissemination of data Not feasible to withdraw from research Possibility of re-identification
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33 Problems with general consent if not understand Intention to patent discoveries Income from licensing and royalties Future studies that might be considered objectionable
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34 Recommendations for consent Explicit consent for Whole genomic sequencing Dissemination of sequencing data
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35 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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36 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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37 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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39 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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40 Conclusion Privacy Rule does not protect privacy and impedes important research
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41 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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42 Recommendations Revise provisions of Privacy Rule that hinder research but do not provide meaningful protections
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43 Recommendations Encourage use of limited data sets Make data use agreements more efficient and effective
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44 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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45 Recommendations Clarify if DNA sequences are considered identifiable
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46 Recommendations Stronger security protections Encryption IRB to include security expert Penalties for attempted re-identification Notify participants of breaches
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47 Recommendations Inform participants and public of research results and their importance
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48 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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