A range of potential solutions has been proposed to the confidentiality challenges in genome research and how best to proceed in this era of big data is not known. Some advocate measures to further restrict access to genomic information. Others argue for strengthening laws that prohibit misuse. In the meantime, the strengths and weaknesses of the current web of protections created by federal and state law are poorly understood. In addition, emerging models are breaking from tradition by ceding control to participants over whether, with whom, and for what purposes their data are shared. There is an urgent need to better understand the existing constellation of legal protections, how they apply to a swiftly evolving research environment, and how best to inform prospective participants about the extent and limitations of these protections in different contexts. The objective of the proposed research is to gather empirical data regarding the actual scope of the confidentiality protections applicable to genome research (beyond basic security measures), as well as how these are and should be described to prospective participants. To achieve this objective, we will: (1) Conduct in-depth qualitative interviews to explore thought leaders' views of risks, benefits, and confidentiality in genome research; (2) Carry out extensive analysis of the legal tools for protecting confidentiality in genome research (e.g., genetic anti-discrimination laws, data sharing policies and regulations), including their application to realistic research scenarios encompassing both current and evolving approaches to control over data sharing; and (3) Assess current consent language and develop flexible model language that simply and accurately describes the confidentiality risks and protections in genome research. The conduct of these aims will be highly integrated, with each one informing and being informed by the others. The expected outcome will be an extensive body of complementary, high quality data concerning the strengths and limitations of legal means to protect confidentiality in genome research-including in the context of emerging approaches to control over data sharing-and how the risks and protections both are and should be described to prospective participants. These data will further support several important areas of future research, including investigation of participant opinions and understanding, genome researcher perspectives, and rigorous empirical assessment of our model consent language.

Public Health Relevance

Genome-scale research, together with widespread sharing of the amassed data, provides unparalleled opportunities to learn more about human health and disease. Despite careful attention to data security and policy approaches to protecting confidentiality, however, resourceful investigators continue to demonstrate the ability to discover the identities of research participants whose genomic data had otherwise been considered 'de-identified.' The long-term goal of the proposed research is to support the development of evidence-based approaches to confidentiality in genome research that enhance public trust and facilitate scientific progress.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
5R01HG007733-02
Application #
8896836
Study Section
Societal and Ethical Issues in Research Study Section (SEIR)
Program Officer
Kaufman, Dave J
Project Start
2014-07-24
Project End
2017-04-30
Budget Start
2015-05-01
Budget End
2016-04-30
Support Year
2
Fiscal Year
2015
Total Cost
Indirect Cost
Name
Duke University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
Beskow, Laura M; Hammack, Catherine M; Brelsford, Kathleen M (2018) Thought leader perspectives on benefits and harms in precision medicine research. PLoS One 13:e0207842
Wolf, Leslie E; Beskow, Laura M (2018) New and Improved? 21st Century Cures Act Revisions to Certificates of Confidentiality. Am J Law Med 44:343-358
Beskow, Laura M (2016) Lessons from HeLa Cells: The Ethics and Policy of Biospecimens. Annu Rev Genomics Hum Genet 17:395-417