Skip to 0 minutes and 11 secondsThere are very few times in someone's lifetime where there are pivotal moments. And in science and genetics I think this is one of those pivotal moments. I think whole genome sequencing will bring about some fundamental changes in medicine and in healthcare. One of the hardest things in genetics is not being able to find an answer for families. We believe whole genome sequencing will really open up many many possibilities. DNA sequencing is likely to become another routine test that you might experience in the hospital. Just like an x-ray or a CT scan, it might be that another test that your doctor will run will be to look at your DNA.
Skip to 0 minutes and 54 secondsThere is an argument to say why wouldn't you do whole genome sequencing when a child is born? Then you have all the information there for the rest of the child's life. My hope for the future, and through the advent of whole genome sequencing, is that we can help a lot more people. My area in cancer has massively expanded over the last few years. Going from maybe one or two genes to look at we can already look at panels of genes. By looking at whole genome sequencing we're going to be able to make much bigger panels that we can test patients for which is going to really help.
Skip to 1 minute and 32 secondsWe'll start to look at turnaround times being reduced and patients really having the confidence that they can give us a DNA sample in their blood and we can extract it, process it, analyse it and give them an answer to a particular question in hours or days rather than potentially weeks as it takes now. More families will get answers as to why their child has the disease they have and it will allow identification of better treatments - be that drugs, surgical interventions or screening programmes for those families. and also to test other relatives to see if they're also at risk of developing that disease.
Skip to 2 minutes and 6 secondsThe time from the sample coming in to us to producing a result is still a number of days. Looking to the future, there's going to be a real revolution where we can reduce that turnaround time significantly so that a clinician can get a result within hours or minutes - perhaps at a patient's bedside and can therefore make a much more informed decision about which antimicrobial to use to treat a patient. About 1% of Mycobacterium tuberculosis in the UK is highly resistant. Our technology should help us tell what the best choices are for those patients.
Skip to 2 minutes and 45 secondsAt the moment, as a pathologist, I can look at a group of tumours down the microscope and they all have the same diagnosis but I know there are differences. At the moment I can't look beyond that. With the 100,000 Genomes Project, we'll be able to unpick tumours - to better classify them and provide better prognostic information for those patients. Because genome data is digital, because it's very shareable, we can start making connections that will allow us to much more accurately predict the spread of disease. And we'll be able to do that, hopefully, in a timeframe that means we'll be able to act on it before problems like Zika or Ebola take hold.
Skip to 3 minutes and 25 secondsThere will always be more complex genetic information that health professionals don't understand and that patients will need more support with, and we'll always be there for that.
Skip to 3 minutes and 35 secondsWe've never before seen such a movement of people saying: 'Yeah, come and test me, I want my information to be shared.' 'Yes, take samples from me, I want this to contribute towards improving human health.' Whole genome sequencing, I feel, is going to revolutionise the way in which we deliver healthcare. In some ways I think it's quite frightening because we will be having a whole lot of information that we never had before. But being able to get this information is so exciting - and it's something that we're only really starting to understand.
What will the future look like?
In this video our experts consider how things might look in the future. As Dr Michelle Bishop says, we are at a pivotal moment in science and healthcare. We are really only at the beginning, but now that we have the option to look at the entire genome we will:
Provide a diagnosis for the first time for many people with a previously undiagnosed rare disease.
Increase our understanding of the links between genes and cancer, meaning we can expand the panels of genes which are tested for each cancer and increase the range of treatments on offer to patients.
Better classify cancerous tumours and treat people accordingly.
Reduce the turnaround times of results meaning we can treat patients more quickly and effectively.
Develop new treatments and screening programmes in light of new genetic information.
Better classify pathogens and trace the spread of infectious outbreaks such as Ebola in real time, making it possible to better control outbreaks before they take hold on a large scale.
Throughout the video our experts pose interesting questions, such as:
Will whole genome sequencing bring about fundamental changes in the ways in which we deliver healthcare?
Should we sequence the DNA of every newborn baby so that healthcare professionals can revisit an individual’s genetic information throughout their lifetime?
Could genome sequencing becoming another routine test in the health service, just like an x-ray or a CT scan? Should we share our data? Would you share yours?
The truth is that it is hard to predict where whole genome sequencing will take us, but one thing is for sure: its emergence poses lots of questions, opens up lots of possibilities, and is already advancing healthcare around the world.