A Sociotechnical Approach to Improving Security and Privacy in the Genomic Data Ecosystem

PROJECT SUMMARY/ABSTRACT The dream of open science for genomics is hindered by concerns about genomic data re-identification and the resulting restrictive data access protocols. The long-term goal is to create a technical ecosystem that can facilitate more open scientific practices for genomic research. The central motivation is the belief that both equity and the pace of advancement of genomic science could be increased by easing access to existing genomic data, including underutilized direct-to-consumer genomic data, through a combination of two technologies: bringing genomic analysis to participant-stored data and the adoption of sign and mask technology. The rationale for this project is that these technologies greatly facilitate the recruitment of research participants by creating a bridge between researchers and potential participants who already possess their own genomic data, signing that genomic data to re-assure researchers about its provenance and integrity, and masking those portions of the data that are not required for the analysis at hand from researchers to ensure participant privacy. The central motivation will be pursued through four specific aims: 1) Develop and evaluate a framework based on bringing genomic analysis to the data; 2) Design and analyze an offline digital signature system for masked genomic data; 3) Characterize key aspects of the legal and regulatory context for the genomic data ecosystem; 4) Analyze the likely acceptance by researchers and usability by participants of new technologies for protecting and sharing genomic data. The first aim will develop the technologies necessary for carrying out “in-silico” genome tests on the desktop computers or smartphones of individuals. The second aim will develop the technologies necessary for individuals to protect sensitive parts of their genomic data while still providing useful integrity assurances to researchers. The third aim will identify and characterize the significant legal and regulatory challenges that face an open science approach to genomic research. The fourth aim will use qualitative and quantitative methods to assess the acceptance, impact, and usability of the technologies developed in studies targeting genomics researchers and lay users. The research proposed in this application is innovative because it combines technical, legal, and social scientific methodologies to create a framework for open science in genomics, to characterize the legal and policy challenges that must be overcome for this framework’s widespread adoption, and to empirically assess how these technologies can be made most useful for researchers while simultaneously protecting the rights of research participants. The proposed research is significant because it will facilitate more rapid advancement for genomic science by providing access to underutilized and more diverse sources of genomic data, streamline the process of gaining access to potential sources of genomic data while ensuring its integrity, and provide a new framework within which the security and privacy of genomic data can be increased for research participants. Ultimately, such knowledge has the potential to contribute to the adoption of open science practices in genomic research.