Imagine a world in which the entire human genome could be sequenced, catalogued and analysed for less than the annual price of private healthcare insurance. If such a feat were possible, what could it mean for the healthcare profession? How would it affect the way patients were diagnosed, treated and processed, and how could all such data be captured and analysed?

 

Potential

It may sound like science-fiction, but there are companies out there who are confident that within a few years, desktop genome sequencers will be affordable and efficient enough to sequence the entire human genome in a day, accurately and for less than $1000. If their projections are realistic, then it could have enormous implications for the world of healthcare. By sequencing an individual’s genome, medical professionals would be able to determine with unprecedented accuracy that individual’s propensity for genetic diseases and abnormalities.

 

Put simply, affordable entire-genome sequencing would transform modern medicine from a process that primarily treats disorders after the fact, to a science dedicated to the prevention of illnesses before they occur. If doctors could forecast exactly where and when a patient was going to develop cancer, liver failure, or heart disease, they could work in advance to prevent these maladies from ever occurring or, if that weren’t possible, allow time for the patient to prepare themselves psychologically, physically and financially for the onset of ill health. This process could save patients from huge amounts of suffering and trauma, as well as allowing the NHS to offer a far more cost-effective service than is currently possible.

 

Issues

Unfortunately, a world where entire-genome sequencing is available to all does raise a number of thorny issues. The first, and perhaps the most obvious, are ethical problems. If doctors could determine, with a high degree of certainty, that a person was going to develop a malignant tumour at a particular time in their life, would they really want to know? Could people cope with the precognitive and certain knowledge that they were going to fall critically ill 20, 30 or 40 years down the line? Furthermore, there are fiscal and practical issues to consider, too. While we’re lucky to have access to free healthcare in the UK, other nations aren’t so fortunate. Insurance is little more than a legitimised form of gambling, so what insurer would offer to cover the costs of treatment for a patient that was guaranteed to contract a serious illness at some point in their lives?

 

Data

There are of course practical implications to consider where entire-genome sequencing is concerned, too. It takes the current technology several days to sequence a single human genome, which gives you an indication of how much data is contained within an individual’s DNA. Even when the sequencing process is streamlined, and developers hope the next generation of machines will see results within hours rather than days, the organisation, processing, analysis and storage of that data poses significant challenges for medical corporations, and it’s a process that currently takes additional days on top of the sequencing itself.

 

In a world where entire-genome sequencing is a reality rather than a possibility, the accurate interpretation of data will be pivotal for the successful implementation of the process into existing medical structures. This is where companies like DCC will come in; with our extensive experience dealing with bespoke, big-data problems, we can handle even the most extensive data sets, organise and present them in a way that enhances clarity and highlights results. If we could cope with data problems of this magnitude, just think what we could do for your business. Take a look at our flexible data capture solutions and find out how we can help you audit effectively and achieve your research ambitions.