#Health: Almost there - gene technology in the health arena

Understanding of genomics has increased substantially since the year 2000, by which point the majority of the genome had been sequenced as part of the Human Genome Project, writes European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan.

In April 2003, scientists announced that they had completed the Project, which was tasked with putting together a list of the three billion letters of genetic code that make up human DNA (The original idea was to develop a resource - a reference genome representing humanity).

This meant that the original scientists were reading letters of the genome, page-by-page, with different pages coming from different people, rather than just one. Each page was a stretch of DNA, around 100,000 bases long, until they reached the total of three billion.

However, individuals differ in only one out of 1,000 bases, so the original vital reference genome was 99,9% identical to any real person. 

Research since that monumental time has greatly furthered understanding of the genome’s implications for health. These advances have been matched by a revolution in technology that has slashed the costs of sequencing and increased its availability.

The original 3$ billion cost for sequencing the first human genome would now buy a staggering one million. 

However, currently, extracting clinically actionable information from such data is a little bit hit or miss, takes time, and relies on knowledgeable specialists. 

On top of this, the necessary information technology platforms to allow access for physicians as yet do not properly exist.

Diagnosis is a crucial step in medicine, but can also be difficult. Doctors quite often order individual tests to see which is the right diagnosis from a set of likely ones. This is slow and cumbersome.

For the past 13 years-or-so, researchers in the US have been working on methods for identifying pathogens based on their DNA. Notably, in 2003, biochemist Dr. Joseph DeRisi made the news by using a gene chip to identify the virus that causes SARS.

Now, to identify a pathogen, DeRisi’s fellow scientists extract every scrap of DNA in a patient sample to search for those that belong to pathogens. Alternatively, rather than test for a particular pathogen, it will be possible to run a DNA identifying the cause of illness, whether it be a virus, a fungus or a parasite, for example.

Unfortunately, sorting through millions of DNA fragments is a huge technological challenge which can take some time, and a critically ill patient may have died before a diagnosis is made.

But science marches on. And clinically and scientifically, there is a compelling case to be made for the large-scale introduction of next-generation sequencing (NGS) technologies.

NGS could be introduced into, for example, clinical trial design and current hospital practice from cost/benefit (more accurate patient stratification for treatment) and patient quality-of-life (reducing the likelihood of offering patients ineffective therapies) perspectives.

Although it is happening slowly, genome sequencing is certainly being introduced into clinical care - improving diagnoses and care of patients with rare genetic diseases and impacting on cancer diagnosis and stratification of therapies.

However, there remain a number of key challenges to overcome to ensure genomics and related technologies are fully applied.

Among them are the fact that test results must be delivered quickly, and data must be presented so as to to allow relatively simple decision making by physicians. 

Meanwhile, adapting sequencing to potentially life-saving clinical work needs much higher levels of sensitivity and specificity than is currently required for research. There are many other issues to be dealt with in the coming years and decades.

Fortunately, there are already major projects in the EU Member States, such as the UK’s 100,000 Genomes Project, that seek to address some of the issues at a national level.

And beyond this, ‘Healthcare Genomics’ is to be launched as a campaign initiative driven by the Brussels-based European Alliance for Personalised Medicine and Illumina, the global industry leader in genomics, with the support of partners and patients. 

The initiative’s aim is to engage and inform European Union and Member State policy makers in order to shape the landscape for the successful implementation of genomics and related technologies in the healthcare arena.

This initiative will be formally launched at a meeting ahead of EAPM’s annual conference, on 4-5 April 2016 in Brussels, bringing policy makers together with thought leaders from healthcare, academia, industry, and patient organisations under the banner 'Determining a path for optimal integration of genomics into healthcare across Europe'.

Overcoming the challenges facing us will ensure that, during the coming 15 years, Europe can fully realise the potential of NGS-based personalised medicine, thus improving health care and reducing costs.

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