Gins & Genes: It takes so long!

14 October 2019

Interview with 

Eva Higginbotham, University of Cambridge; Hannah Thompson, Cambridge Cancer Genomics

GIN and TONIC

A gin and tonic with grapefruit.

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We've been talking about the UK Biobank's genome sequencing project - now it's time to take the edge off with a nice gin & tonic. This month, Eva Higginbotham and Hannah Thompson join Phil Sansom at the Cambridge Distillery...

Hannah - I’m Hannah Thompson, I’m the Chief Product & People Officer at a startup called Cambridge Cancer Genomics.

Eva - I'm Eva Higginbotham and I'm a student at the Department of Zoology.

Phil - Thanks both for joining me. We're going to be drinking some gin, as usual provided by the Cambridge Distillery - courtesy of our friend Mr. Will Lowe. Will, what are we drinking today?

Will - So today I have bought you the latest in our hyper-local gins: this is called the Curator's Gin. All of the flavours you see in this glass came out of the Cambridge University Botanic Garden less than two miles from here.

Phil - So this month we're talking about this big project to sequence all the whole genomes in the UK Biobank. Is this everything it's cracked up to be? Is it a real big milestone in the way we understand genetics?

Eva - I think it will be when it's done - for the UK, at least.

Phil - Is that important, by the way? “For the UK”?

Eva - I think it is important. I mean really... we can sequence all of the genomes in the UK, but actually the Biobank is 94.6% white. Which at the time that they collected participants was actually representative of the population, but we're not talking about, you know, all humans when we're talking about this. We’re actually talking about a very… it’s quite a small subset of types of people. I mean, not only the Biobank segregated by age, so they recruited people between age 40 and 69; but also because of... it's called the healthy volunteer effect. So the kind of person who's likely to respond to a letter in the post that says, “do you want to be a part of our project,” et cetera, tends to be someone who's already quite healthy. And actually the statistics show that they have a higher percentage of women; less likely to smoke; they're less likely to be obese than the general population; they're more likely to be healthy in lots of ways. But, you know, you have to start somewhere.

Hannah - You make really, really good points, and I think it's great to know what's going on at a genetic level, but actually some of those things don't present themselves if they're not put in certain environments. If you really, really want to untangle everything you have to monitor people right from birth up ‘til they die.

Eva - The other thing is that it's, you know, I was talking to my friend who's a doctor and she was saying, “what are we going to do?” As a scientist I'm kind of like, “more information is interesting!” And from a doctor standpoint they're like, “great. So it's this gene. And how can I help this family?”

Hanna - Yeah, I think that will be the next bottleneck.

Phil - Does that seem like something to do with the reason that these pharmaceutical companies are getting nine months’ early access?

Eva - Overall they've put money in - it's 100 million pounds between four companies - they're putting money in, so they're getting something out. And in a way that is a sign of things ticking along and working as they should. One of the questions about pharmaceutical companies having early access to the data comes under the question of patents and patenting genes. So I didn't realise until recently that up until 2013 in the US, it was 100 percent legal to patent genes. And actually...

Phil -  Patent genes?!

Hannah - Madness!

Eva - Yeah. And then there were... 4,300 human genes were patented up until 2013. And not just, this isn't just a question of like, “oh, we took a bit of DNA and we messed around with it and now we’ve patented it.” This is, like, a gene that I could have in my body that my body made and used. Where that has really serious consequences is when you think about testing for specific genetic disorders. So the famous one is the BRCA, the breast cancer genes. Those were under patent until 2013. So if you wanted to get tested to see if you had a much higher risk of breast cancer, you had to pay that pharmaceutical company to do the testing because they had patented those genes.

Phil - But you have the gene!

Eva - Yeah, you have the gene! I mean, that's... it brings up all these interesting questions about who owns nature. I'm not sure about the laws in the UK, and they did change them in the US in 2013, but yeah. One of the things that they report from the Biobank for this project is that the pharmaceutical companies will have to report on any patents that they're going to file from information they gather from this mission.

Hannah - I would say also that nine months isn't that much of a head start in the grand scheme of science. They are actually the ones with the most resources able to action any data points that come out of it. I talk to oncologists almost weekly and they say we're getting more genomic information and, “I don't know, I'm not a genomic expert so I don't know how to handle it.”

Phil - Is that the real challenge then? Analysing this stuff?

Hannah - Yeah, I think there's huge amounts of data to understand. And if we get the links between them wrong that has huge implications as well.

Phil - What do you guys think about this idea that, you know, data seems to be the big, hot new commodity nowadays?

Hannah - Data is definitely the new gold; or petrol, maybe. Gas. Who knows. Luckily there are quite strict laws on data privacy, but it's very hard to police exactly what's going on so you can't be looking at what everyone's doing all the time.

Eva - It's interesting to me because I'm not a big data scientist; I take lots of images of fly brains using a microscope. And over the course of the last four years I've taken an unbelievable number of images. But the fact is that only a small portion of that is actually useful. We've reached a point in biology where it's relatively easy to make a huge amount of data. Getting what's good out of it is going to take much longer than actually producing it in the first place.

Phil - Two years down the line when it's actually done - maybe a couple of years after that when a bunch of people have done studies on it - do you think someone's life might be measurably different?

Hannah - I think the problem I have with this is: lots of science news is very exciting and very explosive, and like, “woo, this is going to happen!” But actually it doesn't happen for years and years and years, and we all know the pain of how long science actually takes. So I think there's just a management issue, so managing expectations and the like.

Phil - So manage my expectations.

Hannah - You might die from a genetic disease and not know why still! We're not going to see the true impact of the data and for about... maybe 50 years, if I want to be very cautionary?

Phil - Fifty years?

Hannah - Yeah, I think to be able to research something, find a drug target, put it through clinical trials, make sure it works and that subset of patients that you're interested in; that’s a lot of time.

Eva - And it also costs a lot of money. I mean, one of the things that's good about this kind of project is that hopefully it will make making new drugs cheaper, because part of the cost of getting a new drug to market is the number of drugs that turn out to be useless. You can put years and years and years - and a horrible amount of money - into developing a drug, and then you find out, “oops, it doesn't actually do what you want it to do, never mind!” And so that means that the cost of developing the drug does actually work goes way, way up. So one of the hopes actually with this kind of project is that, because we'll understand more details about complex regulatory links between genes, we might be able to rule out drugs earlier in the process. So in that sense it's going to take a long time to see the full effects of this work, absolutely. But hopefully it will also speed up some of those processes overall.

Hannah - It just takes so long, man! There are new, really exciting things coming out, but just... yeah. When you look back it takes a lot of time to get places.

Phil - Right, that's enough about the genetics. I think we've earned some gin. Cheers everyone!

All - Cheers!

Hannah - Just what I needed on a Monday.

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