Personalised medicine slowed by lack of diversity in genomic data
An absence of genomic data from ethnic populations, including those of India and Africa, is hindering the personalisation of medicine, according to Sumit Jamuar, the CEO of Cambridge-based Global Gene Corp. The company aims to democratise research in the sector by making it more widely available. Jamaur commented that "60% of the world’s population comprises less than 1% of the world’s genomic data", meaning pharmaceutical companies are unable to create precision medicine programmes. Global Gene Corp is working with individuals, hospitals and research companies to gather more genomic data, which it will then analyse with machine learning.

Genuinely paradigm-shifting achievements don’t come along every day, year or, heck — even every decade.

The Human Genome Project, however, was one notable exception to that rule. Decoding the genome in the early-2000s was a game changer. It wasn’t as immediately wondrous as the Moon landing, or as immediately fearsome as the atomic bomb, but it hinted at the promise of an amazing future: one in which a person’s genetic predisposition to disease could be unravelled early enough for them to act. Genome scanning would move us from a world of reactive medicine to one of proactive medicine; forever banishing the one-size-fits-all approach.

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“60 percent of the world’s population comprises less than one percent of the world’s genomic data”

Jump forward around a decade-and-a-half and that dream is still becoming a reality, but it’s a slow process.

“The technology is ready,” Sumit Jamuar told Digital Trends. “It’s better, faster, cheaper, whether you look at frameworks or sequencing. But the data is missing.”

Jamuar is the co-founder and CEO of a genetics company called Global Gene Corp., whose R&D center is located in Cambridge, England. The startup’s mission? To democratize genomics research by making it available to people throughout the world.

“One statistic which staggered me when we first looked at the data is that 60 percent of the world’s population comprises less than one percent of the world’s genomic data,” Jamuar said. “There are more than 3 billion people who do not contribute sufficient genomic data. To deliver any precision medicine programs in these countries means that pharmaceutical and medical companies need to have that data. This isn’t just looking at the top 1 million or 10 million people; if we have done our job correctly we will have a real impact on a significant population set of 3 billion people of different ethnicities all around the world. To me, that is the meaning of democratizing a technology.”

The caucasian-centric genomics data that presently makes up the bulk of available data isn’t a conspiracy. The funding for the Human Genome Project came from the United States and United Kingdom, both of which have predominantly white populations. Developing nations like India and Africa, meanwhile, have lagged behind in this research — although interest is growing.

“Many of these other governments already have their budgets stretched by fighting communicable diseases and other elements which are a priority in the immediate term,” he continued. “The good news is that as these communicable diseases are eradicated — such as India being made polio free — you can focus on the bigger threats. These are the non communicable diseases, like heart disease, cancer and the like. Those inherently have genetic codes.”

“There are more than 3 billion people who do not contribute sufficient genomic data”

Diversity in genomic data is hugely important. For instance, Indians frequently suffer from diabetes in greater proportional numbers than Westerners. The same is true with colon cancer among young people, which is at higher levels in India than in America, although just 0.2 percent of available genomic data comes from India — which holds 20 percent of the world’s population. Indian populations who suffer from colon cancer additionally show different genetic mutations from patients in Western countries. Being able to analyze genomics data for populations outside of predominantly caucasian ones means that a great degree of understanding of these issues can be gathered. It also means personalized medical treatments can be made more effective in the process.

Global Gene Corp. is working with hospitals, research organizations and individuals to gather its genomics information. It is also striving to bring the price point down to levels that are achievable in developing nations with much lower median earnings. The goal is then to use cutting-edge machine learning tools to help make sense of the data, and to draw useful correlations.

This is where Jamuar said the value will come. He draws a parallel between personal computing in the 1980s, when it was just starting to develop the “killer apps” which made it useful to everyday consumers, and genomics-based healthcare in 2017.

Far from just a “nice to have” luxury, Jamuar pointed out that investment in this area can help cut down on wasting expensive drugs, which may prove ineffective fighting certain diseases. “The world is spending about $200 billion on cancer drugs, where you can estimate ¾ are not effective,” he said. “The same is true with many asthma drugs.”

It’s all part of a broader shift he sees taking place in which the world moves toward personalized healthcare.

“Right now, we have a symptom and we go to the doctor with it,” he said. “We then get an intervention, which could take the form of a drug which may or may not work. Twenty years from now I think that people will look back and say, ‘that’s so medieval. I can’t believe you ever used that kind of hit-and-miss experimentation.’ What will instead happen is that we’ll have data for every individual and that will give us the ability to predict the best way to avoid disease on a personal basis. It also opens up the possibility of using gene editing, where you can fix certain mutations in a person’s genetic sequence. It will be possible to do tailored treatment for every individual.”

Certainly it’s an ambitious mission, and one that will require considerable private and public funding, but it’s a crucial next step to take as genomics research continues.