As the price of analysing genetic information decreases, it’s potential to revolutionise healthcare increases but will the general public embrace this non-traditional data or will its controversies cause it to be left behind? Orion Health’s Analytics Line of Business Owner, Jeff Turpin, investigates.

Genomic data

Due in large part to the commercialisation of DNA sequencing, genomic data has gained mainstream attention as a revolutionary source of health information and analytics. Once prohibitively costly, genomic analysis has rapidly reduced in price, falling from thousands of dollars a decade ago to just a few hundred dollars now. Lowering costs has finally made DNA a viable source of health data and it’s predicted to become even cheaper and more accessible in the future.

Genomic information is a key component of Precision Medicine, an emerging model of healthcare which focuses on tailoring healthcare to an individual. Traditionally, most treatment options have been designed for the “average” patient. Unfortunately, this generalised approach has meant that some treatments can be very successful for some while ineffective for others.

Precision Medicine accounts for differences in people’s genes–as well as the environments they live in and their lifestyles–which could lead to better healthcare efficiencies, as well as lower risks and costs. Genomic information, for example, could help a clinician to know whether a specific type of medicine would work for a patient without having to potentially trial several different treatments. This could save both the clinicians and patients time by removing the need for as many follow up appointments, would reduce the cost of treatment as less medication would be required, and could potentially reduce the risk of allergies and side effects. It could also help to pivot healthcare from being reactive to proactive, giving clinicians the ability to address potential problems long before they become a risk, such as preventable diseases like Type-2 diabetes.

Due to the many benefits, Precision Medicine is largely recognised as the not-too-distant future of healthcare–a sentiment echoed by then-President Obama when he launched the Precision Medicine Initiative in 2015. The $215 million investment by the American government was designed to help the National Institute of Health make continued advances in Precision Medicine and to collect genetic data from one million people, showing just how important the model will become in the future.

However, genomic data is not without controversy. Prenatal genetic testing, for example, was introduced in the 1960s and has become common-place. The testing allows expecting mothers to find out whether their child could have genetic irregularities or disabilities, such as down syndrome. The results of these tests however, have led to a new dilemma for expecting parents: if you received a positive test, what would you do? Do you prepare for the challenge of bringing a child into the world with potentially a lifetime of difficulties, or do you choose to terminate?

It’s a question that no parent wants to answer but it is one that is becoming more common as this type of technology progresses.  

Today Down syndrome might be one of the most common prenatally diagnosed diseases but many people who are born with the disease can now live happy and healthy lives with an average lifespan of around 60 years. Yet, 90% of women in the UK who received a prenatal diagnosis of Down syndrome chose to terminate.  In the US the percentage is 67%, in Iceland it’s 100%.

And as the price comes down and genetic testing becomes more available, more expecting parents be faced with this controversial choice.

While a minority of expecting parents will face a tough choice in the future, Genomic data could benefit so many more. The data is expected to revolutionise healthcare and save and improve countless lives around the world – but not before there’s significant debate.