The aim of of the meeting was to begin to answer the question:
“What will be the impact of large-scale sequencing of human populations in the 21st Century?”
Held at The Royal Society in London on 19th April 2013, the meeting brought together some distinguished figures from clinical genetics, population genomics, DNA fingerprinting and the legal implications of genomics. There is an excellent summary of the meeting on Storify, as a collection of Tweets from several authors assembled by DJ de Koning, but I have included some highlights in this post.
Speakers at the meeting were Kate Bushby and the people shown below:
Sir John Burn, Mark Jobling, Mark Henderson, Sir Alec Jeffreys, Jane Kaye, Simon Myers, Jim Lupski #gensocspring pic.twitter.com/UNXhgGIhy5
— Razan A (@RazanAbujaber) April 19, 2013
First to present was Jim Lupski from Baylor College of Medicine, Houston, on “Personal Genomes”.
According to Jim, one of his claims to fame should be that he was the first person in the world to be both first author and the subject of study on a personal genome paper. His whole genome was sequenced and analysed because he is part of a pedigree or “clan” (as he called it) segregating a peripheral neuropathy called Charcot-Marie-Tooth disease. Jim Lupski’s talk was a bit of a romp with paper, case study and human stories tumbling out so fast it sometimes seemed difficult for him to draw breath. The last story was particularly compelling – a tale of fraternal twins, with a movement disorder, that had undergone numerous inconclusive medical investigations before whole genome sequencing enabled a clear diagnosis and improved therapy.
#GenSocSpring Sir John Burn – On persuading David Cameron value of the NHS 100,000 clinical genomes…
— Paul Denny (@pauldennyuk) April 19, 2013
Sir John Burn entitled his talk “Power to the People”. One of his main themes was that we were heading towards a clinical genome sequence data “traffic jam”. An example of this is the recently announced NHS plan to spend 100M pounds on sequencing about 100,000 patient genomes. Some of the other issues this project raises are discussed in an excellent blog post, here. Sir John emphasised that, in order to extract maximum value from these date, it will be vital to share information on variants in a way that preserves patient confidentiality. One way to encourage sharing these data is to use “microattribution“, where scientists who have annotated a sequence variant gain credit for their efforts.
Katie Bushby on delivering the promise of Genomics and Therapy. #GenSocSpring How to turn the bottomline of publications into practise
— DJ de Koning
Prof. Kate Bushby’s talk was entitled “Developing Therapies for Neuromuscular Disease” and focused on delivering on the promise of genomics. Duchenne muscular dystrophy (DMD) was one of her main topics and is rare, affecting around 1 in 3,600 boys. This was a sobering story, reminding us that finding genes associated with Mendelian disease is relatively straightforward, whereas developing therapies can be very difficult. The first mutations shown to cause DMD were identified in 1986, but only two drugs are in regulatory approval assessment in 2013; furthermore, there are 42 open clinical trials.
#GenSocSpring Jane Kaye Oxford addressing issues of data protection changes @eurordis #RareDisease- dynamic consent http://t.co/nfQnTgHR7f
— Katie Bushby (@BushbyKate) April 19, 2013
The talk from Jane Kaye was devoted to the legal implications of genomics – not a familiar topic for me and was fascinating. One of the concepts she discussed was of dynamic consent, a form of informed patient consent which was flexible and changeable over time, but with systems for mutual feedback.
Alec Jeffreys telling story of DNA fingerprinting compellingly. Key: presentation had to be simple enough for juries/judges. #GenSocSpring
— Mark Henderson (@markgfh) April 19, 2013
The next speaker was one of the scientists best known to the public for his invention of DNA fingerprinting, Sir Alec Jeffreys. He spoke with passion and humour about his work, it’s applications and how the fingerprinting technique has evolved. Sir Alec told us how it was critical for the acceptance of the technique by a judge or jury that it could be demonstrated using images. He also explained that the UK, despite pioneering uses of DNA fingerprinting in forensics and personal identification, is now frozen in a technology trap. We still use the same basic method that was invented in 1984.
#gensocspring Mark Jobling University of Leicester – Human Ancestry started Using about 2% genome: mitochondrial genome plus male specific Y
— Paul Denny (@pauldennyuk) April 19, 2013
Mark Jobling spoke about “Human Ancestry” and how analysis of large scale genome data allow some amazing visualisations of relationships at the population level. One of the most striking observations was how gene variations seem to mirror geography in Europe, when using data from half a million genetic markers (single nucleotide polymorphisms – SNPs) tested on about 1400 people from different European populations; please look at the map here - if you use some imagination, you can convince yourself that you can see the map “emerge” from the data.
Simon Myers – University Oxford, UK – "Our genetic history, and the role of recombination" Balfour Prize winner lecture #gensocspring
— Paul Denny (@pauldennyuk) April 19, 2013
Simon Myers was awarded the Balfour Prize by the Genetics Society for his work on the exchange of genetic material between pairs of homologous chromosomes - recombination. In his talk he explained why we should care where recombination occurs in the genome and also how we have found that recombination occurs most often in specific “hot-spots”. Furthermore, it seems that a DNA-binding protein, called PRDM9, recognises the specific locations where recombination happens most frequently.
#gensocspring Mark Henderson – Communicating Genomics – The Geek Manifesto: Why Science Matters. 50 Genetics Ideas You Really Need to know
— Paul Denny (@pauldennyuk) April 19, 2013
The final talk of the day was given by Mark Henderson – Head of Communications at the Wellcome Trust. Mark enjoyed puncturing some media myths about genomics and also explained why, despite the occasional inaccuracy or over-simplification, it was important for scientists to engage with the media:
7 Rules for Scientists Talking With the Media:
- Just Do it!
- Support your colleagues if they interact with the Media
- Use real examples
- Avoid hype
- Avoid using the infamous phrase, “We’ve found the gene for…”
- Ask to talk with the most senior science writers
- If mistakes are made in reporting your science, complain (constructively)
The day ended with the speakers fielding questions from the audience either formally, in the lecture theatre, or less formally, over a glass of wine and some nibbles. And at this point, I have to admit that my notes ran out…
