The @uk_biobank is ... amazing and is basically, in my view, rebooting the science of human physiology.
Why? First it is just a really well phenotyped cohort at scale. Back in the early 2000s a number of people did key power calculations and amazing (or not so amazingly for epidemiologists) 500,000 was the minimum prospective cohort to have to impact common disease
Secondly the phenotyping has been done centrally and consistently, and some key imaging phenotypes have been done at scale. This is remarkable logistics, fund raising/arguments and delivery. *so* many things could have gone wrong which didn't.
Thirdly the health record linkage by the NHS has its limitations (I can see Cathy Sudlow's eye roll at this description) but it does work. (not as good as Denmark's EHR, but... not bad) Hospital Episode Statistics - diagnosis of disease in ICD world is actually pretty useful
The long haul of primary care data has finally landed in UK BioBank and this will take this to the next level. Denmark is always gone to have that longitudinal reach that no other country can match, but ... i've seen far worse ICD code/EHR link up scenarios.
Fourthly the size and length of time of UK BioBank means companies are pitching new ways to look at blood (in particular) and by the rules of UK BioBank this becomes open to other researchers after a specific time.
Fifthly UK BioBank is unfussy about the science on data access. Very straightforwardly you don't have to be mates with the lead investigators to gain access; you do have propose sensible science and you do have follow the rules (eg, disclosure etc).
Sixth - There is extensive genotyping, now exome, will be genome. And probably the interesting thing is that this is just one of 6 great things about UK BioBank.
Detractors will bring up ascertainment. Which - is fair - it can't be all things and to get the logistics and scale they had to go to a broad volunteer basis. But here is where you need to blend UKBioBank results with well ascertained cohorts (my favourite: @CO90s - "ALSPAC")
I have made great clinical colleagues - now friends - around UK BioBank - epidemiologists (so much epi. I love epi.) and then Cardiology and Opthamology I have gone deep(er) into.
I sometimes joke that if I could meet an enthusiastic clinician scientist into Toenail physiology and disease I would happily do toenail genetics to inform toenail physiology and disease...
Just being able to really nail down that this bit of physiology works like this... and impacts this disease A and B but not disease C and D... it really feels like ones just rolling back the clouds of ignorance.
Many many things went right with UK BioBank - hats off to the funders @wellcometrust and @The_MRC - to all the people (Tim Peake and Mark Effingham) who made it happen but, for leadership, science and vision - Rory Collins deserves so much praise.

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More from @ewanbirney

6 Feb
This weekend is a festival of sport in the UK - Premier League action (sadly - Arsenal lost); Start of Rugby's 6 nations; Superbowl - against a background of a COVID still whipping around us. Some thoughts from sport-heavy London:
Reminder: SARS-CoV-2 is an infectious virus which causes a nasty disease (COVID) in a subset of people (more likely if older; male; overweight) and sadly a proportion of people die who get the disease.
If we let the virus follow its natural course in populations our health care systems would be overwhelmed; far more people would die both due to the virus and other things and it would be near catastrophic for the function of modern society
Read 23 tweets
31 Jan
COVID thoughts on a cloudy late January day in London - longer evenings, and our house lockdown rhythm has settled somewhat.
Context: I am an expert in human genetics and computational biology; I know experts in infectious epidemiology, viral genomics, clinical trials and immunology. I have some COIs: I am a long established consultant to Oxford Nanopore and I am on the Ox/AZ vaccine trial.
Reminder: SARS-CoV-2 is infectious virus which causes a severe disease in a subset of people (older; more obese; male risk factors) often leading to death. If we let the virus go through the population both a large number of people would die and healthcare systems would melt
Read 21 tweets
22 Jan
A perspective on COVID from a sunny, crisp London house, in a break between zoom calls.
Context: I am an expert in human genetics and computational biology; I know experts in infectious epidemiology, viral evolution, clinical trials and (now) public health delivery. As Deputy Director General of @embl means I have a working knowledge of many European countries
I have two conflicts of interest - I am a consultant to Oxford Nanopore that makes SARS-CoV-2 tests+sequencing kits and I am trial participant on the Oxford/AstraZeneca vaccine trial.
Read 24 tweets
12 Jan
I am not full sure people appreciate the impact of B117 strain on the course of the pandemic. TL;DR B117 is "a pandemic inside a pandemic" and demands both monitoring and preparation for when it arrives in a location. Vaccination is even more of a priority due to B117.
Context: I am an expert on human genetics and computational biology. I know experts in viral evolution, testing, infectious epidemiology, clinical trials. I have COIs in that I am long established consultant to @nanopore and I am on the Ox/AZ vaccine trial.
B117 clearly transmits faster. This has been clear in a UK context now for over a month, with particularly insightful backtracking of growth of B117 from low levels through October/November; it is true in Denmark; it is true in Ireland.
Read 18 tweets
8 Jan
It is hard month in January in UK, in particular the NHS critical care, but also now in "schools out" lockdown. Here are some thoughts from grey January London on COVID.
Context. I am an expert in human genetics/genomics and computational biology; I know experts in viral genomics, infectious epidemiology, clinical trials and other fields. I have COIs: I am long established consultant to @nanopore that makes a COVID test + I am on the OX/Az trial
Reminder: SARS_CoV_2 is an infectious virus which causes a horrible disease (COVID) in a subset of people (more likely older, male and overweight). A substantial proportion of the people who get the disease die.
Read 25 tweets
3 Jan
A meta-thread on my take of how to "read" science as a scientist. This is to arm non-scientists about how to navigate a world where one sees the "leading edge" of science develop as we do now in COVID.
(Context: I am an expert in human genetics and computational biology - data science in biology. As Deputy Director General of @embl I have the pleasure of being involved in a lot of science in a strategic way both inside @embl and internationally).
The first point is that most scientists have sets of observations about the real world which are solid - they have been measured multiple times; multiple groups found the same thing; ideally measured in different ways.
Read 19 tweets

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