Study examines use of blockchain to protect indigenous genomic data

by Arthur · July 28, 2022

July 28, 2022 — Genomic data from indigenous communities is playing an important role in understanding a range 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 for using blockchain to ensure that Indigenous Data Sovereignty (IDS) is maintained during the collection, storage and sharing of health data.

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. At the top left (A), the various stakeholders acting as nodes on the blockchain interact with the blockchain via the smart contract user interface (UI). The blockchain consists of certain key blockchain features, including community-centric 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 to identify 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 asking for metadata, judging the network to allow or deny the request, writing the final result of the request to the blockchain, and executing the smart the contract outlining the terms and requirements for data release. Finally, after receiving validated authorization as written to the blockchain and proven by consensus, the biobank as a node of the network can see and use this information to initiate transfers of requested data directly to the intended recipient via other off-chain mechanisms with the allocation of access registered 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 use of data generated by its members – with the promise and potential of blockchain technology to enable better governance of health-related data ,” said Mackey, who is a professor in the Global Health Program at UC San Diego and director of the Global Health Policy and Data Institute. “While there are several commercially focused initiatives to use blockchain to manage various forms of health care, 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 peoples are historically underrepresented in research, have a relatively low degree of European admixture and offer unique insight into genetic variants of interest. These data are critical to the future of biomedical research, which has become even more evident due to the COVID-19 pandemic and the need to ensure inclusion in biomedical and clinical research. He said the team’s research was inspired by work done by the Native BioData Consortium (NBDC) with the Cheyenne River Sioux Tribe.

“The NBDC has been instrumental in ensuring that indigenous peoples own, control and benefit from their genomic data,” said Alec Calac, an MD/PhD student, co-author of the paper and 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 tangible or intangible benefit to tribes like mine.”

Calac said the NBDC also hosts skills training workshops for aspiring indigenous data scientists. “Their work was the premise for us to assess whether we could develop a blockchain framework that could improve the governance of strain genomic data.”

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

Source: Kimberly Mann Bruch, SDSC External Relations