Ellen Wright Clayton, MD, JD
Craig-Weaver Professor of Pediatrics
Director, Center for Biomedical Ethics and Society
Vanderbilt University
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Data Sharing
 Identifiability
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Return of research results
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Why is this an issue?
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Sharing promotes research BUT
Desire to reap fruit of one’s labors
Competition
Difficult to do
▪ Differences in consent, IRBs, communities, data formats
 Research participants may not want it
▪ Concerns about particular recipients – Pharma,
government
▪ Concerns about risks
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Applications and proposals that include
GWAS, regardless of the requested costs, are
expected to include as part of the Research
Plan either a plan for submission of GWAS
data to the NIH-designated GWAS data
repository, or an appropriate explanation for
why submission to the repository will not be
possible.
 NOT-OD-08-013
Threshold otherwise $500K
The data submission is consistent with all
applicable laws and regulations, as well as
institutional policies ; . . .
 The identities of research participants will not
be disclosed to the NIH GWAS data repository;
and
 An IRB and/or Privacy Board, as applicable,
reviewed and verified that: . . .
 The investigator’s plan for de-identifying
datasets is consistent with the standards
outlined above; . . .

 NOT-OD-07-088
the identities of data subjects cannot be readily
ascertained or otherwise associated with the data by
the repository staff or secondary data users (45 C.F.R.
46.102(f));
 the 18 identifiers enumerated at section 45 C.F.R.
164.514(b)(2) (the HIPAA Privacy Rule) are removed;
and
 the submitting institution has no actual knowledge
that the remaining information could be used alone or
in combination with other information to identify the
subject of the data. Keys to codes will be held by
submitting institutions.
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NOT-OD-07-088
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External
 Prosecutor – try to identify specific person
 Journalist – try to identify any person
 Marketer – try to identify many people with errors
acceptable
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Internal
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They all depend at present on pre-existing
identified data
They depend on level of data security
The level of risk can be quantified
But should we look at the risk relative to
other levels of privacy?

The appropriate research uses of the data and the uses that are
specifically excluded by the informed consent documents are
delineated;
 An IRB and/or Privacy Board, as applicable, reviewed and
verified that: . . .
The submission of data to the NIH GWAS data repository and
subsequent sharing for research purposes are consistent with
the informed consent of study participants from whom the
data were obtained;
 It has considered the risks to individuals, their families, and
groups or populations associated with data submitted to the
NIH GWAS data repository; and
 The genotype and phenotype data to be submitted were
collected in a manner consistent with 45 C.F.R. Part 46.
 NOT-OD-07-088
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Use the data only for the approved research;
Protect data confidentiality;
Follow appropriate data security protections;
Follow all applicable laws, regulations and local institutional policies and procedures for
handling GWAS data;
Not attempt to identify individual participants from whom data within a dataset were
obtained;
Not sell any of the data elements from datasets obtained from the NIH GWAS data
repository;
Not share with individuals other than those listed in the request any of the data elements
from datasets obtained from the NIH GWAS data repository;
Agree to the listing of a summary of approved research uses within the NIH GWAS data
repository along with his or her name and organizational affiliation;
Agree to report, in real time, violations of the GWAS policy to the appropriate DAC;
Acknowledge the GWAS policy with regard to publication and intellectual property; and
Provide annual progress reports on research using the GWAS dataset.
What are we talking about returning?
 Nothing at all
 “Incidental findings”
 Quality control – eMERGE experience
 Pleiotropy
 Is there a duty to look?
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Individual research results
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Clinicians sometimes feel compelled to disclose
Patients/research participants often say they
want/expect results
 May be particularly true when the research is being
conducted by their own health care provider group
 Surveys and focus groups by Genetics and Public
Policy Center
▪ The next two slides were used in a talk by David Kaufman
Relative importance of study benefits
“In deciding whether or not to participate,
how important would the following be to you?”
Health information
94
Travel expenses
81
Health care benefits
79
Monetary compensation
75
Internet connection
64
Gas card or gift card
Gift item
%Very important
61
31
% Somewhat important
“I would want to know my
individual research results about:”
Agree
Disagree
“conditions that
can be prevented
or treated.”
4%
96%
“health risks, even
if there is nothing I
could do about
them.”
9%
91%
Strongly Disagree
Disagree
Agree
Strongly Agree
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Not all want results
 Marshfield – people chose to have their
information included in GWAS because they
would not get results
 Vanderbilt – 1/65 respondents wanted results
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Well documented differences between what
information people say they want and what
they choose to get
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Is retaining way to return results required?
What criteria?
 Clinically actionable
 Reproductive utility
 Personal meaning
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For what time?
Who should decide if criteria are met?
Who should return results?
 Initial investigator?
 Biobank?
 Downstream investigator?
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Need for compliance with CLIA
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Errors
Pleiotropy
Complexity
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We cannot assume that returning results will
improve health
 Risk of increasing health care costs
Association between Condition-Specific Risk Estimates from Genomewide Profiling and
Intended or Actual Completion of Screening Tests.
Bloss CS et al. N Engl J Med 2011;364:524-534
Bloss, et al., n engl j med 364;6 nejm.org february 10, 2011
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We are losing sight of the big picture
 Lots of information about us is available
 Long history of epidemiology research using data
 What is special (or not) about genomics
 The discourses about issues in genomics
sometimes conflict – privacy v. return of results
 Issues with blurring research and the clinic
▪ “Therapeutic misconception”
▪ Not all information obtained in clinical care is or should
be acted on