Blockchain: Genomics instead of bitcoins

Last Updated on July 21, 2022 by Joseph Gut – thasso

21 July 2022 – Blockchain is a digital technology that allows a secure and decentralized record of transactions that is increasingly used for everything from cryptocurrencies to artwork. But blockchain also is entering or is increasingly used in any environment, were individual information is arising and could securely be shared with others. One such new use for blockchain could be the leverage of the technology to give individuals control of their own genomes.

Interesstingly, thasso had already an article about the potential of blockchain technology for single individuals for presenting their personal patient and clinical phenotypes to the interested public, a process dubbed “phenotype broking” at the time. An recent article in the June 29 issue of the Journal Genome Biology extents on this concept to involve genomic data of single individuals in a similar blockchain-based approach.

The primary idea/goal  of this blockchain approach is to give ownership of genomic data back to the individual, according to the research team behind this study. Millions of people seeking insights into their ancestry or information about medical risks have already donated their genetic information to private commercial companies. Whether they know it or not, however, they also have given up control over how that information is used or sold.

The new technology, dubbed SAMchain, ensures that individual genomic information remains secure and under the control of the individual. Since information cannot be changed once it is 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 far-flung networks of computers. Genomic data become increasingly integral to the understanding of human health and disease. The integrity and security of these data must be a priority when providing solutions to storage and analysis. Corruption, change, or loss of personal genomes could create problems in patient care and research integrity in the future.

Of course, the SAMchain technology could also speed up the advance of truly personalized medicine. For instance, patients would be able to provide direct access to their genomic data to doctors who can then use the information to help diagnose and treat medical conditions. They could also give permission to medical researchers to use their genetic information as part of their investigations or even sell it to pharmaceutical companies, i.e., in some kind of “genome broking“.

Researchers say the development of blockchain technology for medical purposes has been hampered by a huge roadblock: the immense size of data contained within our DNA. Unlike a financial transaction facilitated by blockchain, such as a bitcoin trade, which requires a limited amount of data storage, data from the sequencing of a single human chromosome can contain millions of “reads” or short fragments of DNA. The researchers involved in the present study worked around that problem by comparing an individual’s DNA against a standard reference genome. They then stored only the differences in linked blocks of the blockchain. The blocks, in turn, were indexed in a special way to allow for rapid query.

However, this measure in itself may be questionable. While from an IT-setting of thinking, a standard reference genome may be acceptable, from human individuality setting of thinking, the question arises whose genome will be used as the reference standard? Is there a “standard genome”? And to what do then the stored differences of single individuals relate to? Those stores individual differences can, of course, be linked to conditions with known genetic risk factors, which potentially can inform patients not only of their personal risk of developing disease but also help guide treatments for existing disorders.

The ideal situation would be to have a combination of blockchain system with genomic data which are correlated with patient phenotype data (outcomes) with an indication of the Odds ratio of the correlation of a genetic status and actual phenotypic status of a patient, as referred to and eluded on in the earlier post of thasso. There may still be a way to go.

See a short sequence on blockchain and genomics: