Gene sequencing and the interpretation of genetic data are the biggest influences on modern medical research today.

As scientists continue to unlock the secrets and potential of our most basic coding - the day is coming when most people will have a record of their whole genetic sequence, and be able to find exactly what has been written into each and every cell.

One of the devices that will help usher a new age is the multi-million-dollar Illumina HiSeq X Ten, which has found a home at the Australian research laboratories of the Garvan Institute in Sydney.

We spoke to one of the people who will be pushing the buttons and pulling the levers on Australia’s genomic revolution; Garvan's head of clinical genomics, Dr Marcel Dinger.

For now, Dr Dinger says the relevance of a complete sequence is limited to professionals and researchers, but he too sees a time coming when almost everyone will have access to the six billion pairs of molecules that define much of our being.

“There are two things that are achieved by this new instrument,” Dr Dinger said of the Illumina machine.

“The first is that the cost of sequencing becomes much, much lower than it has ever been. Even a year ago sequencing a whole human genome still cost in the order of at least $5,000 - and that was just to generate the data... this cuts that down to pretty much $1,000.”

“So there’s a huge drop in price, but also an enormous increase in volume,” he said.

“Previously, at best, we would have been able to sequence eight whole genomes per week on the two sequencing instruments that we’ve got.... this [the HiSeq X] will allow us to sequence more than 300 per week.”

“With the combination of those two things, it allows us to do more large-scale experiments,” Dr Dinger said.

From research in the last decade alone, thousands of markers and precursors for genetic diseases, defects, improvements and enhancements have been discovered.

In the coming years, with the help of devices such as the one that has just landed in Sydney, researchers at Garvan and other centres will continue to plumb the genetic depths to uncover traces, triggers and treatments for conditions which have plagued our lives.

“The main area that genome sequencing is really useful for is in indentifying ‘monogenic’ diseases... where there’s been a single gene disrupted that’s causing a disease. Cystic fibrosis might be the most well-known example of a monogenic disease,” Dr Dinger says.

With genetic checks; “you’re able to make that diagnosis immediately at birth,” he said.

“Cystic fibrosis is actually not that difficult to diagnose, but there are many other diseases that are incredibly difficult... where there are hundreds of possible genes that can cause the disease.

“The old-school style of genetic testing, where you do one gene at a time, was very expensive, very labour intensive... and could take years to get a diagnosis. In this case it’s one test and you can get a straight diagnosis... and you can start looking for a treatment,” he said.

The machine’s ability to do large batches of sequences, several times more than any before, means good things for the assessment of population-level statistics and the stratification of cancers.

“Traditionally, cancer is largely diagnosed by its tissue of origin, so... pancreatic cancer would have one treatment pathway, lung cancer another, brain tumour another and so on,” Dr Dinger says.

“But what we’ve actually learned is that there are some breast tumours... that have got more in common with a pancreatic cancer than do with the majority of breast cancers... so in that case, for example, the treatment for the pancreatic cancer might make more sense for the breast cancer... so that’s quite cool.”

“It’s a system where we’re able to match up the most appropriate drug to the particular type of disease, so it’s a more specific way of diagnosing the cancer,” he said.

To find out what exactly is going on in the corrupt strains of cancerous DNA, researchers have been sequencing the code from samples of the actual tumour. This has led to a number of important findings, including a better check of breast cancers to make sure a patient gets the right treatment for their own oestrogen receptors.

“For looking at an inherited disease we just look at the DNA that’s in the blood, but in the case of stratifying tumours you take the DNA straight from the tumour itself,” Dr Dinger says.

“At the moment there are single-gene tests for very small numbers of genes that are explored... but usually there’s a very limited number of these tests that can be done on very particular tumours.”

“What we anticipate will happen in the future is that it becomes possible to test for lots of genes, you could do it in all tumours and you could do it much more cost-effectively.”

For the genomic research team at the Garvan Institute, the possibilities that come from large scale collation and access to genetic information are the most exciting prospects.

“There are a lot of diseases for example, Type 2 Diabetes, where there is a clear environmental component but there is also a genetic component... and we’re not quite sure what those genetic components look like,” Dr Dinger, who also heads Garvan’s Genome Informatics unit, said.

“The only way we can do that is by looking at large populations of individuals before those signals, those genetic markers, start to come to the surface.”

“The integration of the data is tremendously important, it’s well recognised as an international endeavour,” he said.

That endeavour has begun to take shape, with over 125 health and research organisations around the world working to get the Global Alliance for Genomics and Health (GA4GH) off the ground.

A global, open-access database needs to allow “a sharing of data between researchers, to be able to find these faint signals in genomes for different diseases,” Marcel says.

“I think these same databases will also be what clinicians ultimately tap into to perform their genomic analyses themselves.

“So when a new genome comes in you’ll be able to query these giant databases... so you can probably learn a lot more, and learn very quickly from the experiences of clinicians around the world, it can really be very powerful in that way.

“What I think is the most useful implementation of this information for an individual is that it becomes part of their personal health record.

“You own your health record, you should own your genome too,” he said.

“But it should be accessible to any clinician that you would make it available to... so you step into your doctor’s office and they could launch queries of your genome for drug sensitivities or other important indications.”

The Global Alliance for Genomics and Health is being formed to clear the hurdles blocking such a useful technological tool.

The Alliance intends to address the current issues with the rights and permission for data from previous studies; set up a standardised format for ‘factory-scale’ sequencing, allowing the harmonisation of currently disparate data; and create a similarly harmonious set of clinical terms for communicating across borders and formats.

The price of genome sequencing has dropped faster than most expected in recent years, and it is now on a trajectory to become a relatively inexpensive check with massive possibilities.

“I think that time may be coming sooner rather than later, which is a pretty remarkable thought,” Dr Dinger says of the day when generating a full sequence is an easy task.

“No-one knows what’s coming next, no-one has a crystal ball... except maybe the manufacturers of the instrumentation,” he joked.

“Even now it’s already at a price in line with a lot of other types of testing, such as an MRI... it’s actually much cheaper than it is to get a set of braces, which pretty amazing really.”

“It’s already in the domain where it’s affordable to anyone that needs it.”

For many people, the concept of knowing their exact genetic make-up is more concerning than exciting, and for those it will remain a clinical tool only for a time of need. While it is true that some genetic precursors signal conditions with no cure, Dr Dinger says he prefers to deal with information over unknowing.

“It’s a very reasonable case to say you don’t want to know if you can’t change something, so I can see why someone would choose not to” he said.

“But I think the case for those types of things that are completely preventable is tremendously valuable... if you learn, for example, that you have a very high susceptibility to something like diabetes, where a lifestyle change might be just the thing that staves that off... a lifetime being dependant on insulin injections, I think that’s a choice most people would like to make if they knew in advance.”

As for the sequencing of the genome becoming a central part of healthcare (and insurance); “that’s another bridge entirely,” 

“We’ll have to wait and see how governments respond to this, and to what extent they see the value both economically and practically to patients.”

“It wouldn’t surprise me to see within ten years that this was all but ubiquitous,” he said.