Study Explores Use of Blockchain to Protect Indigenous Genomic Data

July 28, 2022

July 28, 2022 — Genomic data from Indigenous communities plays an important role in understanding an array of diseases; however, this data has often been used without informed consent. A team of UC San Diego researchers—including San Diego Supercomputer Center affiliate Timothy Mackey—recently proposed a framework to utilize blockchain to ensure that Indigenous Data Sovereignty (IDS) is maintained during health data collection, storage and sharing.

IDS blockchain framework summary. This figure, featured in “Establishing a Blockchain-Enabled Indigenous Data Sovereignty Framework for Genomic Data,” published in the journal Cell, describes a high-level architectural overview of the IDS blockchain framework. In the top-left corner (A), the different stakeholders who act as nodes on the blockchain interact with the blockchain via the smart contract user interface (UI). The blockchain is comprised of certain essential blockchain features including community-centered consensus protocols, smart contracts, permissions, and any necessary DApps (B-1). On-chain storage of data is de-identified and privacy preserving, with only a thin layer of metadata available for parties to query for purposes of identifying matching records that may be of interest for further genomic data discovery (B-2). The blockchain process described in (B-3) describes how blocks of data will be written to the chain based on a user querying metadata, adjudication by the network to allow or deny the request, writing the final result of said request to the blockchain, and executing the smart contract that outlines the terms and requirements of data release. Finally, upon receiving validated authorization as written to the blockchain and evidenced by consensus, the biobank as a node to the network can view and use this information to initiate transfers of requested data directly to the intended recipient via other off-the-chain mechanisms with the grant-of-access recorded on the blockchain (C).

The researchers’ study was published by the journal Cell in an article entitled Establishing a Blockchain-Enabled Indigenous Data Sovereignty Framework for Genomic Data.

“Our study is the first of its kind to combine the concepts of Indigenous Data Sovereignty (IDS)—the right of an Indigenous nation to govern the collection, ownership and application of data generated by its members—with the promise and potential of blockchain technology to enable better management of health-related data,” said Mackey, who is a professor with the Global Health Program at UC San Diego and director of the Global Health Policy and Data Institute. “Though there are several commercially focused initiatives to use blockchain to manage different forms of healthcare data, none have focused on the specific needs and unique cultural values of Indigenous peoples, nor purposefully designed a blockchain framework that makes IDS its central pillar of governance.”

Mackey explained that Indigenous populations are historically underrepresented in research, have a relatively low degree of European admixture and offer unique insights into genetic variants of interest. This data is crucial to the future of biomedical research, something that has become even more evident due to the COVID-19 pandemic and the need to ensure inclusivity in biomedical and clinical research. He said that the team’s research was inspired by work conducted by the Native BioData Consortium (NBDC) with the Cheyenne River Sioux Tribe.

“The NBDC has been helpful to ensure that Indigenous Nations own, control and benefit from their genomic data,” said Alec Calac, an MD/PhD student, co-author of the paper, and a member of the Pauma Band of Luiseño Indians in San Diego County. “Specifically, the NBDC, a first-of-its-kind non-profit Indigenous-led biobank and research institute, ensures that advances in genetics and clinical practice provide material or immaterial benefit to Tribes like mine.”

Calac said that the NBDC also hosts skills training workshops for aspiring Indigenous data scientists. “Their work was the premise for us to assess if we could develop a blockchain framework that could enhance governance over Tribal genomic data.”

Although blockchain was never considered as a viable solution for data sovereignty issues, this study offers promise. “We have recently submitted a grant application to further develop our framework and if we receive funding, we will next determine the technical components of making our system work in the real-world with an existing Indigenous-led genomic biobank,” Mackey said. “We plan to first consult with local Tribal communities, then refine our framework to the specific needs of the communities and the NBDC, and finally roll it out with a pilot version to assess its impact in the community.”


Source: Kimberly Mann Bruch, SDSC External Relations

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