Genetic Research in Addicted Individuals and their Families Genetic research provides the opportunity to understand how allelic variation in specific genes travels within families to increase the risk for developing an addictive disorder in particular individuals. This information is quite useful in guiding the development of medications for treating addictions and may offer strategies for intervention before addiction becomes entrenched in the lives of those so afflicted.

Ethical Issue: Adequate Privacy and Confidentiality Protection for Particpants from Addiction-Prone Families Addiction is a stigmatizing condition that may affect employability, insurability, and social interactions. Even if an individual does not have an addiction history, coming from an addiction-prone family may be stigmatizing.

Sensitive Research Data Historically, NIH has been concerned about the implications of identifying an individual as having an addiction problem. In 2003, the Committee on Vaccines Against Drugs of Abuse was convened by the National Academy of Science to study the implications of genetic research and those involving administering vaccines that could be detected years after administration.

Excutive Summary Conclusions The committee noted that in regard to use of these new immunotherapies: “Enthusiasm for these new medications should not obscure the fact that fully informed and voluntary consent is necessary under any and all circumstances ... These medications can produce long-lasting biological markers (raising issues of confidentiality and potential for discrimination).”

DNA Revolution

Consent and Genetic Data 2002 - HapMap project obtained consent to include participants’ data in web based resource. 2008 - 1000 Genomes project obtained consent.

White House Memorandum: Heads of Executive Departments and Agencies - 2013 Increasing Access to the Results of Federally Funded Scientific Research NIH Policy “(b) a strategy for improving the public’s ability to locate and access digital data resulting from federally funded research... (d) a plan for notifying awardees and other federally funded scientific researchers of their obligations to share.”

Considerations Do traditional research regulations apply to Big Data health research? How is privacy and autonomy guaranteed in Big Data research? Can we ethically abandon informed consent in Big Data health research?

identifies up to 70% of families uniquely. Family structure obtained from online obituaries from a given geographical area identifies up to 70% of families uniquely. AMIA 2006 Symposium Proc., 524-528.

Geneaology Databases Provide Source for Identifying Anonymous DNA Donors Gymrek et al (2013) exposed identity of 50 donors using publicly available resources. Used age of donor and state of residence. Used SNPs on Y chromosome – Y-STRs remain unchanged from father to son. Used genealogy data bases with 40,000 records matching Y-STRs to surnames. Gymrek M, McGuire AL, Golan D, Halperin E, Erlich Y. Identifying personal genomes by surname inference. Science, 339, 321-324, 2013.

Consent and Genetic Data 2002- HapMap Project obtained consent to include participants’ data. 2008 - 1000 Genomes project obtained consent to include participants data. 2015 - HHS proposed change in the “Common Rule” that would have required scientists to obtain consent from those with biological samples to use in subsequent studies. 2016 - National Academies report recommended not doing so citing “undo burden on researchers.” 2017 – Common Rule changed – researchers currently not required to obtain consent but does require informing participants that data could be identifiable with WGS.

NCBI Retiring HapMap Resource June 16, 2016 “A recent computer security audit has revealed security flaws in the legacy HapMap site that requires NCBI to take it down immediately. We regret the inconvenience but we are required to do this.”

Current Concerns Research participants who donated DNA under previous NIH and IRB guidelines had an expectation that their data would not be shared. New policy stating no need to re-consent appears to violate research participants trust. NIH data bases may not be as secure as we had hoped for (HapMap pulled abruptly for security concerns). In response to those who say “just because you can re-identify who would want to do it” – Hackers are demanding ransom for stolen medical records.

As noted by Mark A. Rothstein, JD (2015) “Despite unique aspects, such as data sources, scale and open access provisions, the ethical issues surrounding Big Data are similar to those involving traditional biomedical research. Without question, the regulation of research can be improved in many ways. The development of new data analytic tools, however, such as Big Data, should not serve as a catalyst for abandoning foundational principles of research ethics. The issues are complex and deserve further study.” Rothstein MA. Ethical issues in Big Data Health Research. Journal of Law, Medicine and Ethics 425-429, 2015.