Organised by Genetic Alliance UK
Thursday 10 March 2016
'Personalised medicine' is a term that's being increasingly used to describe the future of cancer treatment. But what is really meant – and what do we understand – by the concept of making treatment unique to an individual?
Organised by Genetic Alliance UK as part of their 'Genome Seq Week', 'My Cancer, My DNA: can genomics change the way we treat cancer?' was an event that aimed to answer these questions and encourage discussion around the 100,000 Genomes Project and the use of genetic information in the NHS.
The evening began with a welcome by Alastair Kent, Director of Genetic Alliance UK, a charity that represents patients suffering from rare genetic conditions. He introduced the background to the 100,000 Genomes Project, an exciting initiative launched by Genomics England in 2012 to sequence 100,000 whole genomes by 2017. It will be sequencing the genomes of patients with rare genetic disorders as well as the genomes of cells taken from the tumours of common cancers.
Genetic testing is most commonly discussed with patients who are directly involved in genetic studies. As genetic testing becomes ever more widely used, it is increasingly important to engage the general public in similar discussions, said Kent. He emphasised that the majority of patients are overwhelmingly supportive of genetic sequencing and the sharing of data to aid research. The purpose of this event – of which more are planned in the future – was to see if the opinion of the general public matched those of patients.
Dr Katie Snape, lead consultant for cancer genetics at St George's Hospital in London, outlined how genomics will be used in healthcare – and specifically in cancer treatment – in the future.
In recent years, DNA sequencing has become far more accessible – it is now quicker and cheaper than ever to sequence a genome. Dr Snape used the clever analogy of the evolution of video games in the last few decades to illustrate her point. Early sequencing technologies of the 1990s gave us a Pac-Man perspective of the human genome, she said; modern technology means we're now playing the genetic equivalent of Grand Theft Auto. While the premise of the game has stayed broadly the same – driving a character around a track (or understanding how genetic changes might cause disease) – the resolution and amount of information available has increased exponentially.
But getting meaningful information from genetic data is an overwhelming task. With over 100 million differences between the genomes of two individuals, how can scientists identify which ones to target treatments towards?
There are already some treatments that are tailored to particular variants of cancer. Certain hereditary breast or ovarian cancers – where known predisposing mutations are inherited from one or both parents – are now treated with drugs targeted at those mutations. But the majority of cancers are 'sporadic' – that is, caused by random mutations acquired over the lifetime of the patient. The 100,000 Genomes Project aims to sequence the complete genomes of cells taken from the tumours of 25,000 cancer patients over varying stages of disease progression. By tracking mutations in the DNA of cancer cells, researchers hope to identify changes that could be specifically targeted to develop treatments on an individual basis.
Dr Clare Turnbull, clinical lead for inherited cancers at the 100,000 Genome Project, gave the second talk of the evening, on the technical logistics of implementing the project and its longer-term objectives. She explained that the aim is to put genomics at the centre of our healthcare system but said that, for now, this remains an ambitious hope for the future.
Following the talks, the audience was invited to give their opinions on three main aspects of the project – would we share our own genetic data to aid research; what did 'genome sequencing' mean to us; and if we had the opportunity to be tested for all potential genetic diseases, would we choose to have this knowledge? For the most part, the audience's answers were similar to those of patients involved in the 100,000 Genomes Project. Sharing genetic data was viewed favourably, and genome sequencing perceived as an exciting and beneficial technology, albeit one that that should be approached carefully.
The most conflicting perspectives within the audience were on how much knowledge individuals would want to have about their own predisposition to genetic conditions. Interestingly, this is something that mirrors the opinion of family members of patients.
For example, a surprising point that was raised is that young relatives of individuals with Huntington's disease often choose not to be tested. It seems that when the prospect of knowing your disease risk becomes a reality, people would rather not know. This is particularly pertinent for the possible applications of genome sequencing in the future. Sequencing genomes at birth, and releasing disease-risk information to individuals over their lifetime is still science fiction for now – but if that became a reality, how would it be received by society, and how would that information change the way we live our lives?
The event was interesting and informative, and certainly provided a broad background to the thinking behind the 100,000 Genomes Project and the prospect of individualised cancer treatment. I felt that the venue for the event and the relatively small audience would have lent itself to a more extended discussion and debate, particularly surrounding such issues as health insurance, data anonymity and data storage.
I left with a greater understanding of genome sequencing, but also with the feeling that many important questions surrounding the future of genetic data remained unanswered. As genomics becomes an increasingly important aspect of healthcare, keeping informed of how our data is being acquired and shared is important for all of us.
As for whether I'd want to know all the secrets of my own genome, I'm still on the fence. For now, perhaps, ignorance really is bliss.