Download Slides - Indiana University Bloomington

What Should You Know and Be
Doing About Genome Privacy?
Ellen Wright Clayton, MD, JD
Center for Biomedical Ethics and Society
Vanderbilt University
The main point
• Making it difficult to link data to an individual is not the only issue
• Other factors that matter
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Who controls access?
Who needs or is entitled to access?
What is data appropriately being used for? From whose perspective?
What are the chances that data will be misused?
What is the real risk to genomic privacy?
• Homer and Gymrek?
• Evidence of genetic discrimination is hard to come by even though
our laws provide little protection
• Is there really a case for treating genomic information differently from
other medical information?
So what is the risk of privacy breach?
• This occurs most commonly for medical records when
laptops are lost or stolen
• http://www.hhs.gov/ocr/privacy/hipaa/administrative/breachnotificationrule
/breachtool.html
Research -- The age of autonomy
Deborah Peel
• “patients want to be personally contacted to give consent for
research–either directly or by using technology to electronically,
automatically check with their personal consent rules (in a single
place they designate online). Electronic consent management systems
or tools would ensure that patients can set their own broad and
narrow rules, segment sensitive information, change their rules at any
time, and be ‘pinged’ for any exceptions.” (email to me 7/3/14)
• Proposal from the U.S. Office of Human Research Protection to
require “informed consent” for all uses of genomic data
• Contents of the consent not specified
But there are countervailing arguments
• Pressure from funders to obtain broad consent for data sharing
• Only choices are between controlled data base (e.g., dbGaP) v. open data
base (e.g., 1000 genomes)
• Many uses of data without consent for disease detection, quality
control, and research
• These uses are well embedded in many places, including public health law,
the Regulations for Human Research Protection, and HIPAA
• Typically, but not always, de-identified to some degree
But there are countervailing arguments
• The obligation of patients to contribute to the common purpose of
improving the quality and value of clinical care and the health care
system. Traditional codes, declarations, and government reports in
research ethics and clinical ethics have never emphasized obligations
of patients to contribute to knowledge as research subjects. These
traditional presumptions need to change. Just as health professionals
and organizations have an obligation to learn, patients have an
obligation to contribute to, participate in, and otherwise facilitate
learning.
• Faden, et al., Hastings Center Report (2013)
Research – data sharing
• Despite great interest by funders and scientists in data sharing
• Lack of harmony in international law
• Standards for consent
• Standards for de-identification
• Standards for sharing
• Some countries do not allow data to be removed from their
borders
Research – return of results
• Growing pressure to return at least some results of genomics
research – what results?
• The target of the research
• Necessarily discovered – QC and pleiotropy
• Those you have to hunt for
• There is nothing “incidental” about these
• The debate in the US has been misguided by an inappropriate analogy
to imaging studies
• Laboratory testing is the better comparison
Research – return of results
• Heated debate about which results to return
• Major variables are actionability and degree of pathogenicity
• Proposals range from:
• Highly pathogenic and actionable
• Lower degrees of pathogenicity and actionability
• Reproductive risk
• Personal meaning
• Everything
• Potential legal barriers
Research – return of results
Impact of relationship between researcher and participant
Wolf, et al., GIM 2012
Research – return of results
• If return of results is required, then calls removal of identifiers into
question
Genomic data in the clinic
• Identification of data is essential
• What test is done?
• Single gene v. panel v. genome-scale
• Presidential Commission for the Study of Bioethical Issues
calls for “diagnostic parsimony” where possible
Genomic data in the clinic –
if genome-scale testing is done
• What must the report contain for clinical use?
• Essential to return the genotype, which may or may not
be accompanied by a clinical recommendation
• Clinicians open themselves up to liability if they do not
have access to the pertinent variants even if they rely
almost exclusively on the recommendation
Genomic data in the clinic –
if genome-scale testing is done
• Where does the data go?
• In the medical record?
• Somewhere else?
• What goes where?
• Who has access to it?
• Recent federal regulations requires that patients have direct
access to their laboratory results
• Does this include all genomic data?
Genomic data in the clinic
Clinically useful data
All genomic data
• The same questions arise about what must and should be examined
• Clinical purpose, necessarily found, duty to look
• What criteria for return
Questions for the future
Clinically actionable data
• Maintaining the integrity of the data
• Duty to reexamine?
All genomic data
A note about DTC testing
Should a clinician rely on this result?
A take-home point
• Many of the issues that I have outlined cannot be achieved by
segregation or obscuring of data
• Rather, they require attention to oversight, control of access, and
prevention of misuse