When genomics meets blockchain

The Human Genome Project (HGP) was an international research program whose goal was to completely map and understand all the genes of human beings. All our genes together are known as our “genome.”

The HGP represented the culmination of the history of genetics research. In 1911, Alfred Sturtevant, an undergraduate researcher at the laboratory of Thomas Hunt Morgan, discovered that he could – and indeed had to, to manage his data – map all the locations of the fruit fly (Drosophila melanogaster) genes whose mutations the Morgan laboratory was monitoring over generations. This very first gene map has often been compared to the Wright brothers’ first flight at Kitty Hawk. In turn, the Human Genome Project is also compared to the Apollo program taking humanity to the moon.

99.9% of our genetic makeup does not vary across our species. However, the remaining 0.1% contains all the unique variations that define everything from our eye colour, how tall we are to what diseases our bodies may be predisposed to.

In 2003 scientists finally sequenced mankind’s entire genome, listing all of the base pairs that make us human in the form of the letters G, T, A and C. It took 13 years of computing power and cost an estimated $3.7 billion USD. Today the cost and timescales have dropped dramatically. An entire genome can be sequenced for less than $1000 and can be done in a matter of days. These costs and timescales will only drop further as technology improves.

Who owns your genetic data and who benefits from it has become a thorny ethical issue. The genomics data market currently is closed and there is proprietary exploitation of the human genomics data market. But what if we could use blockchain to create a secure and open protocol that encapsulated life’s code.

Data regarding people’s online habits has already proven itself to be incredibly valuable to everyone from marketing companies to governments. What if we could unlock the value in our genetic code whilst retaining ownership. Genomic drug design and genomically targeted therapies are an ever-growing market and it is forecast to be a $27.5 billion industry by 2025.

Last year my mother was diagnosed with breast cancer. She was lucky to be accepted on to a trial where NHS patients cancer samples are sent to the USA to give a better treatment plan and prognosis for sufferers. Upon the return of the data, it was identified that my mother would not receive any benefit from traditional chemotherapy as her cancer was oestrogenic and she was instead placed on a course of radiotherapy. We were told that with her type of cancer only one in four people actually benefit from chemotherapy and the genomic test would help us find out if she was one. You will be happy to hear that with the help of genomic profiling she has made a full recovery. With a course of chemotherapy costing up to $30,000 and genomic testing costing around $1,000, it is clear to see that the NHS and medical services around the world could spend $4,000 on 4 people and identify the 3 people will not benefit. They will be saved unnecessary suffering, get a better prognosis and the NHS saves itself up to $90,000 for every 4 people tested. Almost 360,000 people in the UK alone are diagnosed with cancer every year and the potential for cost savings just in this one area of medicine are huge. Although not all cancers are equal (and hence the 1 in 4 figure does not stand up across the board) through genomic testing we can create ever more personalised treatment plans to improve patients lives. I certainly owe a huge debt to the NHS and to OncotypeIQ who performed the genomic testing.

If we have already sequenced the genome, what makes yours valuable?

For us to take full advantage of genomics we need huge datasets to establish which genetic variations actually cause which illnesses. The big data revolution to exploit this information creates problems that are ethical, scientific and technological which we must overcome.

Last year researchers at Harvard founded the blockchain company – Nebula Genomics. One of the lead researchers George Church had for years been trying to kick-start the genomic big data revolution. He had asked volunteers to donate their genetic data to the Personal Genome Project (PGP) and has aggregated around 10,000 samples so far.

PGP relied on the kindness of volunteers to forgo both their privacy and ownership of their genetic data in order to advance medical science. This relied primarily on people being altruistic or being too ill to care particularly about privacy and ownership concerns.

The next step is to get everybody else involved. It is estimated that only 1 million people have had their genomes sequenced. Nebula and another company DNABits have proposed using a blockchain system to allow all people to monetize their DNA. By being able to sell your genome to data harvesters the cost of sequencing could be brought down to zero, or even make selling your DNA a profitable endeavour.

Whilst at this stage of development you are still required to pay up front for your genome to be sequenced, once done you could allow interested parties to bid for access to your genome in return for cash.

You don’t have to accept cash there are some much more interesting possibilities. It is quite feasible that if you opened up your DNA to a pharmaceutical manufacturer that you could ultimately be entitled to shares in any subsequently developed drug. Funds could go toward paying expensive medical bills. This could all be managed with smart contracts.

Professor Church has stated that “right now, genome sequencing is like the internet back in the late 1980s. It was there but no one was using it.”

Genomics already has and will in the future raise more questions and concerns that can be settled just by science. Hopefully, through the blockchain we can resolve some of these issues. We need to ensure that we create a system that is transparent, fair and gives ownership rights to individuals whilst allowing medical science access to the vast amount of data out there just waiting to be tapped into. Genomic treatment and medical science are in its infancy but it is about to create a paradigm shift in medicine and I for one am glad that blockchain is at the heart of it.

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