Blockchain not only for bitcoin: It can also secure and store genomes

Blockchain is a digital technology that allows a secure and decentralized registration of transactions that are increasingly used for everything from cryptocurrencies to works of art. But Yale researchers have found a new use for blockchain: they have used technology to give individuals control over their own genomes.

Their findings were published June 29 in the journal Genome Biology.

“Our primary goal is to give ownership of genomic data back to the individual, says senior author Mark Gerstein, Albert L. Williams Professor of Biomedical Informatics and Professor of Molecular Biophysics and Biochemistry, in Informatics and in Statistics and Computer Science.

Millions of people seeking insight into their ancestry or medical risk information have already donated their genetic information to private commercial companies. However, whether they know it or not, they have also given up control over how this information is used or sold.

The new technology, called SAMchain, ensures that individual genomic information remains secure and under the control of the individual. Since information cannot be changed once stored in blockchains, the technology also protects against occasional corruption of DNA data stored on the cloud, where most genomic information is now stored on remote computer networks.

“As genomic data becomes increasingly integrated into our understanding of human health and disease, their integrity and safety must be a priority when we offer solutions for storage and analysis, Gerstein said. “Corruption, alteration or loss of personal genomes can create problems in patient care and research integrity in the future.”

SAMchain technology can also accelerate the advancement of truly personalized medicine, say the study authors. For example, patients will be able to provide direct access to genomic data to physicians who can then use the information to diagnose and treat medical conditions. They can also give permission to medical researchers to use their genetic information as part of their research or even sell it to pharmaceutical companies.

Researchers say that the development of blockchain technology for medical purposes has been hampered by a huge roadblock: the enormous amount of data found in our DNA. Unlike a blockchain-based financial transaction, such as bitcoin trading, which requires a limited amount of data storage, data from the sequencing of a single human chromosome can contain millions of “readings” or short fragments of DNA.

The Yale team, led by lead authors Gamze Gürsoy, a former Yale postdoctoral fellow at Columbia University, and Charlotte Brannon, a member of Gerstein’s laboratory, worked around this problem by comparing an individual’s DNA against a standard reference genome. They then stored only the differences in connected blocks in the block chain. The blocks, in turn, are indexed in a special way to allow fast querying.

These individual differences can be linked to conditions with known genetic risk factors, which can inform patients not only about their personal risk of developing disease, but also help guide treatments for existing disorders.

Gerstein also hopes to expand the ability of SAMchain technology to store information about gene expression profiles – genes that are metabolically active in an individual.

The new approach, he said, would be made available as an open source code and available to all researchers free of charge – with the permission of an individual.

“We believe this will actually make genomic research easier, Gürsoy said.