2014 Genetic Alliance UK Annual Conference

‘Genomic Sequencing; why it is important and how it can help you?’ was no small topic for the 2014 Genetic Alliance UK annual conference. The event called together everyone from researchers to those directly affected by genetic disease. And it was not just the audience that was diverse. With journalist and broadcaster Vivienne Parry, Mark Bale from the Department of Health, and Edward Sherley-Price, the parent of a child recently diagnosed with a genetic disease, all taking to the stage to speak it seemed almost every angle of this debate was covered.

1st

So, why is genomic sequencing important? Vivienne Parry, on her whirlwind history of medicine, used the analogy of the Milky Way. Everything is arranged in complex networks and this is why whole genome sequencing is important. From a single lung disease a patient will present completely differently depending on whether they are young or old or overweight, to name just three of the most obvious factors. We cannot isolate and compartmentalise disease as we have tried in the past. Medicine today, unlike in the 15th century (where bloodletting was as high tech as it got), is not limited to treating symptoms. We are increasingly able to deal with the cause.  The rare can provide an insight into the common. Whole genome sequencing of rare disease sufferers provides a gateway into the range of human disease.

It is part of the human condition to rationalise. We like to label. We fear the unknown. Whole genome sequencing can provide a diagnosis. The desire for diagnosis was something that Edward Sherley-Price spoke passionately about during his talk ‘The parent’s perspective’. But it was also echoed by much of the floor. Edward and his wife Steph went through a ten-year struggle with their daughter as they pushed for a diagnosis. He stressed that a diagnosis was incredibly important for parents because it enables them to plan for the future. Whole genome sequencing is the tool that can provide this.

2nd

Linked to the safety of a label seems to be the idea that if you know the cause, you can find the cure. While WGS seems full of promise, one repeated point was how little we still know about genomics. A common fear of WGS is this idea that anyone who glances at your sequenced genome will instantly know everything about your future health. This is far from the reality. What WGS can do, through projects like 100 000 genomes, is to create vast datasets and Mark Bale made it clear that something which needs serious consideration is how best to use this knowledge. We need a major strategy to maintain public trust while working out data sharing. This is integral if we want to make WGS and genomic medicine a practical reality. With much of DNA ‘knowledge’ highly speculative the result is a problem with public understanding and a(n unnecessary?) fear of WGS.

This educational problem is two-fold. It is not just the public who need better, more open and accessible information on the ever-growing field of genomic medicine. Doctor’s also need to be educated and connected with in order to ensure that these new sequencing technologies that are being developed are used, and used to the best of their ability. Bale highlighted that general practitioners are a difficult group to engage with, particularly in relation to rare disease. As genetics infiltrates healthcare it also needs to infiltrate medical education.

Genomic sequencing is to be part of the transformative change of the NHS. It is not just its own sector but rather will be central to several key areas according to the Department of Health. If we are to build an NHS for the era of genomic sequencing existing data must be worked on to gain insights, public confidence must be built, and GPs must be connected with.

genetic alliance annual conference. photo of Alistair Kent giving the closing remarks

Alastair Kent, Director, Genetic Alliance UK, provided the closing remarks at the annual conference. He stated that we need common understanding, active engagement, and to take into account new ways of working. It has been an important year for rare diseases. If we are to harness the unique benefits that the large datasets generated from WGS can give and to continue to use rare disease as a gateway to understanding human disease, we need to ensure that we focus on increasing understanding, use and trust in genomic sequencing.

 

Pictures are taken from Genetic Alliance UK website.

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