The Human Genome And The March Towards Predictive Health

It will be fifteen years this April since the human genome project was completed, and whilst it’s perhaps fair to say that the revolution in medicine that so many hoped for has not yet materialized, there are definite signs that progress is being made.

For instance, a consortium that was brought together by Regeneron Pharmaceuticals and consists of AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, IBM Watson Health and Pfizer have pledged to decode the genome of 500,000 British people in the coming years.

They’re working with the UK Biobank, who are a charity set up by the Wellcome Trust, Medical Research Council, Department of Health, Scottish Government and the Northwest Regional Development Agency in 2007 to improve the prevention, diagnosis and treatment of numerous illnesses.

They have a database of medical data, such as medical records, psychological assessments and test results for half a million volunteers, and when combined with the DNA of each volunteer, it represents possibly the largest concentration of health data in the world.

Each member of the consortium has committed $10 million to accelerate the sequencing of each volunteer’s DNA, with the ultimate aim of bringing forward the full sequencing by three years to 2020, when the data will be made publicly available.

Reshaping healthcare

As a member of UK Biobank, Swedish med tech company AMRA are all too well aware of the potential for health data to reshape healthcare.  The company, who are a world leader in body composition analysis, have already teamed up with pharma giant Pfizer in the past to understand how the relationship between fat and muscle distribution in the body contributes to conditions such as diabetes.

They have recently teamed up with Human Longevity, Inc. (HLI), the genomics-based brain child of human genome pioneer Professor Craig Venter.  Their aim is very much to move healthcare away from treating us when we’re sick towards keeping us healthy to begin with.

“The definition of health is how you feel and whether you have symptoms. We want to change that by giving people information they couldn’t possibly get themselves,” Venter says.  “We’re fighting medical tradition where we wait until people are sick before we treat them.”

Their work revolves around the basic construct that prevention is better than cure, and that there is not a disease in existence where early diagnosis is not only more likely to yield a successful outcome, but also results in cheaper treatment.

Data driven health

The potential of genomics to transform healthcare was underlined by the recent 50 Smartest Companies list produced by the MIT Tech Review, which contained no fewer than five genomics companies.  One of these is Swiss company SOPHiA GENETICS, whose technology helps doctors to make sense of genomic data.

With DNA sequencing now available for as little as $499, the challenge has moved towards making sense of the data that is captured.  SOPHiA use AI to speed up diagnostics in areas such as oncology, hereditary cancer, metabolic disorders, pediatrics and cardiology.

The company, who currently operate in 385 hospitals across 55 different countries, supporting the diagnosis of one patient every five minutes.

It’s a revolution that is gaining growing support.  For instance, last year the Richmond Group of Charities, who represent 14 of the leading health and social care organizations in the voluntary sector, issued a report highlighting how the use of data can significantly enhance health outcomes.

“Healthcare data is one of the NHS’s most precious resources. It allows individuals to be empowered in their own care, medical professionals to improve and tailor individual treatments and the system as a whole to learn and increase its understanding of what causes disease, how it can be prevented and how it should best be treated,” the report says.

Informing the public

Despite the growing cacophony of support for better use of health data, there remains reluctance among healthcare providers to grasp the nettle.  It’s an industry that has historically struggled with change, and so we have seen disjointed efforts undertaken by individual players rather than the systemic approach that is surely needed, not only to ensure that data is better utilized, but that it is done in such a way that patients are comfortable and in control of the process.

Indeed, a recent report by the Reform think tank revealed that only a handful of NHS trusts have so far utilized AI in any meaningful way.  It went on to suggest that whilst the value of AI is increasingly understood, there is a lack of strategic direction or understanding of where to start.

Perhaps a useful first step was made recently by The Wellcome Trust, who have created a portal to try and educate us about our health data. Understanding Patient Data is designed to support better conversations about the use of data in healthcare.  It aims to provide clear and objective evidence around a range of things, including:

  • How and why data can be used for care and research
  • What’s allowed and what’s not allowed
  • What options patients have
  • How personal information is safeguarded

Our health and wellbeing can only truly be determined by our ability to stay well and prevent diseases from occurring.  Better use of data on its own is not going to be the panacea, but it will enable more joined up thinking and a shift in emphasis towards prevention rather than merely cure.  Given the strain the NHS is currently under, it’s a shift that cannot come soon enough.

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