Global Gene Corp’s CEO, Sumit Jamuar, shares the vision that underpins what we’re doing to bring the benefits of genomics and personalised medicine to everyone, wherever they are. Watch his talk from TEDx Roma to hear his story.
I have fond memories of growing up in India and the rural holidays I took with my brother Saumya. We would make the 1000 kilometre railway journey from India’s capital, New Delhi, to Barh – a little town in rural Bihar where our grandparents lived.
The train transported us from a bustling cosmopolitan city to a carefree country paradise where we could sleep under the stars. The night-time stories told to us by our grandparents on these trips were always accounts of good triumphing over evil, revealing how one person’s actions can have a positive impact on many people’s lives.
I remember one key element of these tales that has inspired my journey and work ethic for many years: it didn’t matter whether the story’s protagonist won or lost – what mattered was doing their best and being committed to a cause.
From those starlit nights in Barh, we fast-forward to 2001, when the world celebrated the first draft sequence of the entire human genome and ushered in a new era of medicine.
Knowing a person’s genetic makeup would lead to innovative and personalised healthcare, known as precision medicine, instead of having to rely on a generic, ‘one size fits all’ approach. Being able to predict if an individual was more susceptible to a disease meant steps could be taken in the present to prevent illness or slow the onset of a condition.
At least, that was the idea. The reality has been a bit more tricky.
Seventeen years on, while progress has been made, it has not materialised as expected. There are still a lot of unknowns in genomics and the exact ways in which genetic differences outwardly affect a person’s health. Alongside this, there are now additional impacts to consider such as data use and the privacy of confidential medical information.
However, there is a more fundamental issue behind the slow progress of genomics for all: the Human Genome itself is simply not representative of the current world population.
Back in 2012, I first discussed this problem over coffee with my brother Saumya – now a leading clinician in Singapore – and our good friend, geneticist Jonathan Picker. We quickly agreed there was a systemic bias in the genetic databases that needed to be resolved.
The original first draft of the human genome was sequenced from just a handful of volunteers, and although scientists now have more data from more people, it is still a relatively small genetic pool. By 2016, 81% of the sequences in genetic databases were from white, Western populations. By contrast, despite the Indian population making up 20% of the world, they make up less than 1% of genomic data.
In fact, 60% of the global population contributes under 5% of total genetic databases. Clearly, this is a problem if the goal is to ensure fair access to novel medical technologies for all. Wealthy, white, Western populations are able to benefit from precision healthcare in a way that isn’t currently available for people of other ethnic groups. This is what we want to change for the future.
Our solution? Global Gene Corp wants to deliver a global genome project that is truly representative of the wonderful human diversity on Earth.
Genetic studies of non-white populations are already showing just how much variation there can be in the human genome. In 2016, Nature reported that out of 192 gene variations shown to be linked to disease in Western populations, just 9 of these were shown to cause disease in South Asians.
Our own analysis of public genome data revealed that a genetic fault which should cause epileptic seizures was present in 96% of the Indian population, yet virtually none of these people had the condition!
This is vitally important because if new drugs tailored to such genetic disease markers are given to people other than the predominately white populations from which the databases are gathered, they are unlikely to work, and may even cause serious side effects.
Drug development is already a hugely expensive and time-consuming business, and the reality is that a large proportion of medicines simply don’t work for everyone.
Globally, $4 trillion a year is spent on developing drugs, of which 40% or more are ineffective. If the process starts from the right foundations and ensures the drugs developed are likely to work in a larger number of people, it should be possible to provide healthcare for all.
Ultimately, our vision is to allow people everywhere, right across the globe, to be empowered to use their genetic information to influence their healthcare.
Is this too big a task and too costly to deliver? We don’t think so.
I always like to remember the story of India’s railways, which transformed the country and allowed everyone to travel long distances in an affordable way. The railways democratised transport, yet the idea was once thought ridiculous – slower than boats on canals and far too expensive to catch on.
A similar story has played out with mobile phones, which have transformed global telecommunications in the space of just over a decade. Places like India and Africa have skipped straight ahead to fully mobile technology, rather than trying to put in impractical telephone connections. Sometimes a fundamental, disruptive shift is needed to push forward discovery and revolution.
I still dream of the places I might travel to in the future, but this genetic journey we have embarked on is the one I hope will benefit all of humanity, now and in the generations to come.
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