DAY 1

0915

London is doing its best impression of a cold, grey city this morning, but luckily it’s toasty warm inside ExCeL!

0940

The crowds are beginning to gather for the first keynote presentations of the day, given by Sue Hill, Chief Scientific Officer for England, and Ian Hudson, CEO of the MHRA. This is also a chance to see the latest Festival innovation in action: wireless headsets for the presentations! Anyone for silent disco?

1015

It’s a packed stage for the keynotes!

Ian Hudson gives a great overview of the challenges facing regulators in the era of genomic medicine, but also the opportunities that genomics affords for improving drug treatments. Why is it that some drugs work for some patients and not for others? Genomics give us the opportunity to not only predict drug response more accurately, but also to even predict the likelihood of disease before it occurs.

1050

Over in Theatre 4, Chair Alina Khromykh from Inova Health System introduces the first speakers in “Whose genome is it anyway?” Alina notes that traditionally, medicine has taken a “patriarchal” approach to patient care, with many assuming the attitude that the ‘doctor knows best’. However, much of the session will be focussed on the extent to which patients can become involved participants in their own healthcare and in the research that will benefit them most.

Catrin Middleton, Programme Manager for Precision Medicine at Cancer Research UK, and Janette Rawlinson, a lay member of the CRUK Stratified Medicine Programme Board, kick off with an overview of CRUK’s work to deliver the right drug to the right patient at the right time. As a cancer survivor herself, Janette has a unique perspective on the issues involved and how patient involvement can add real value to research and drug development.

1140

Time for a spot of early lunch and a chance to publish the first half of this live blog! Next up I’ll be returning to ‘Whose genome is it anyway’ to hear today’s Short Read interviewee Manuel Corpas speak about his family experience with open-access personal genomics.

1230

Manuel opens his talk with a photo of him collecting a spit sample for 23andMe testing, and quickly moved on to collecting faecal samples to build a genetic profile. Apparently “sending sh@t to the other side of the world is a unique challenge”. Who would have thought?

On a more serious note, the data from Manuel’s family ‘Corpasome’ has proved both interesting to explore, and useful for identifying family ancestry. His sister’s genome has even been turned into art, in the form of a quilt that now hangs in a gallery in Holland.

“How is this technology going to affect us as human beings?” asks Manny. 

1330

Over at Theatre 1 now where Dr Said Ismail will be speaking about the Qatar Genome Programme. Still in its pilot phase, the project is part of the Qatar Foundation and was launched at the WISH Summit in 2013. While there are many national genome projects, Dr Ismail reckons there are several elements that make the Qatar Programme unique. Qatar has a small population, so sequencing the entire population is eminently achievable. While the population is small, it is highly representative of the Middle East, an area where “a huge amount of genetic information is missing” according to Dr Ismail. 

1440

It’s 2pm, and for the FLG publishing team that means just one thing: time to write that Daily Bundle

1530

There has been some amazing twitter action at the Festival today. Here are just some of our favourites…

1600

Catching up with fellow publishing colleagues over a coffee and getting their take on the Festival content so far. Our house wordsmith (aka science writer) Frances went to check out ‘Building public confidence in sharing their tissue and data for research’, with Amanda Hunn, Joint Head of Policy at the Health Research Authority. The key questions up for discussion were: when does tissue become data, and how can we encourage mainstream sharing of healthcare data beyond the patient community?

Also on Frances’ agenda was CRUK’s presentation on the challenges and opportunities facing precision medicine in the UK, which shared information on the National Lung Matrix Trial.

DAY 2

1000

Day 2 kicks off with a full house in Theatre 1 for a presentation by deCODE’s Kári Stefánsson. 

Among other findings from deCODE’s work in Iceland, Kári presented some of their latest data suggesting that genes for educational attainment are getting rarer in the population.

1130

Over in the crowded Theatre 1, chief scientist of the structural genomics consortium Chas Bountra has been giving an impassioned speech about why corporate secrecy is ultimately hurting patients, even while admitting his own guilt within academia. Backed up by examples and statistics, he continues by telling us that his dream in drug development is to see target validation happening in patients, instead of unrepresentative cell lines or animal models. He rounds his talk off by proclaiming that ‘We are creating a new ecosystem in drug delivery’ – the response of the crowd suggests that this has been a long time coming.

1230

There might have been minor dismay when Edward Oakley announced to a collection of computational bioinformaticians that he was going to start his talk by discussing wet lab work! But he won the crowd over quickly. With a combination of hand sketched diagrams of clouds and self deprecating humour, he had the whole of theatre 3 laughing even while they learned about how the cloud can improve de novo assembly.

1240

Theatre 4 is overflowing with visitors keen to hear Vicki Kiesel’s take on what a genetic counselor does. She talks us through why no one is fully equipped to deal with pharmacogenomics and whether or not family history still has a place in diagnosis (her opinion? It definitely does), before she hands us over to genetic counselor Gillian Crawford from the university of Southampton to open up the discussion of broad consent. In Gill’s words, consent is only consent if it is informed, so how can we allow a patient’s data to be entered into public databases for anyone to access? The answer may lie in clearer explanations for patients.

1415

Few people would dare to ask the ‘would you rather’ question of whether injecting rat poison or suffering ischaemic stroke is preferable, but Harry Hemingway from UCL has no such hesitation. After starting by telling us that common diseases are in fact rare (molecularly, at least), he’s getting us to consider what a clinical phenotype really means and why the era of data based, precision medicine for all might already have arrived.

1545

Last year was a big year for democracy, but Dame Sally Davies isn’t going to linger on it; instead, she’d rather tell us the story of how a young girl called Jessica was able to benefit from the rise in medical genomics to finally identify the single gene mutation causing her epileptic fits. Democratising genomic medicine is no mean feat, but as Sally tells us, with sharing at every level and with collaboration between centres, the UK could be the country leading genomics across the world. Sally puts it best: medical genomics needs to stop being the province of clinical genomicists – you need everyone else to get involved too.

1635

Access to genomic data has been a big topic at the Festival this year and now the discussion is being tied up by Amy Webster’s presentation of the Personal Genome Protect UK. With privacy concerns at an all time high but open access data being used far more frequently than managed data (to the tune of a 500,000 fold difference), the real question is whether genomic data should be shared freely between scientists? Amy’s answer is a resounding yes.

More on these topics