The Future of Genomic Medicine
Naked Genetics, Thursday 14 December 2017
Presented by Dr Kat Arney
Over the last few years, we've seen a welcome explosion in the number of scientific podcasts aiming to spread the gospel about new research that may otherwise miss the attention of the mainstream media. With this in mind, I recently sat down to listen to an episode of Naked Genetics, a weekly podcast covering the 'latest genetics news and breakthroughs from the DNA world' in a half-hour format. The episode I caught is entitled The Future of Genomic Medicine, billed as an exploration of how novel genetic research is becoming increasingly relevant to public healthcare.
The podcast begins rather inauspiciously with an interview with Professor Michael Simpson at King's College London, a genomics expert attending the Genetics Society Autumn Meeting at the Royal Society in London. Though Professor Simpson drops in the occasional interesting factoid, more time is spent glossing over the general topics being discussed at the meeting than any explicit research, and I quickly find myself growing impatient for the next segment.
'Over the next 10 years or so, there's predictions that we're going to have up to a billion genomes sequenced and most of these are going to be sequenced in the healthcare setting,' proclaims Professor Simpson proudly, but it's not enough to hold my interest. Technological futurism is notoriously unreliable (remember cold fusion anyone?), and it's often far more fascinating to hear about specific research being performed in labs as we speak.
The next interview proves more promising. Dr Kaitlin Samocha from the Sanger Institute in Cambridge explains the challenges of trying to process enormous quantities of genetic data to produce usable results.
'One of the big questions within genetics is being able to understand any genetic changes that we see in individuals,' Dr Samocha begins. 'We really need to be able to filter out the changes that are important.'
Sounds reasonable enough so far, if a little cryptic. But with over 3 billion base pairs in the human genome and an estimated 30,000 genes capable of encoding protein, how do they parse out the noise from the real results?
'We have some very nice computers!' says Dr Samocha. 'And actually, increasingly, people are moving to cloud-based systems.' She continues: 'This allows researchers not only at the Sanger Institute where I'm based but researchers in Boston or in Germany, or a variety of places in the world to all contribute understanding the different changes in how they work together.'
The idea of a global collective of researchers sharing gigabytes of genetic data through a digital cloud is very cyberpunk, and I'm immediately hooked.
Later in the podcast, the discussion turns to CRISPR/Cas9, an experimental approach for making precise changes to the human genome. Genome editing has been making headlines for a while now and I'm familiar with the basics, but hearing about it from researchers actively working in the field still proves interesting listening.
'Let's imagine that a clinician has identified a human disease and a gene variant has been found in individuals who have that disease,' says Dr Andrew Wood, a geneticist from the University of Edinburgh. 'In order to show that that gene variant is causal for the disease, one of the approaches that researchers take is to take cells and engineer that particular variant into a cell that didn’t have it previously and to see whether or not that cell behaves differently.'
The idea of researchers being able to create customised models of disease through genome editing sounds fascinating. What really catches my attention, however, is a later interview with Dr Jakub Tolar from the University of Minnesota in Minneapolis, who describes new research investigating the use of CRISPR to treat disorders such as bone marrow failure and painful blistering skin conditions.
Dr Tolar explains how marrow or skin cells with malfunctioning DNA could theoretically be taken from a person's body, edited to express a healthy copy of the relevant gene, then reintroduced into the patient's system to treat their disease.
'There's nothing sci-fi about this,' says Dr Tolar. 'I think this is a predictable, incremental, very exciting pathway we are taking now.'
It's an amazing concept, and enough to sell me both on the merits of the research and the quality of the podcast.
Despite a slow start and the occasional dearth of specifics, Naked Genetics provides an intriguing first-hand insight into novel genetic research as told by the researchers themselves. The focus on interviewing working scientists provides a welcome degree of authority to the discussions, though at times you find yourself wishing they'd gotten someone with a little more flair for communications to help script their remarks. Still, anything that promotes such humanitarian work is a positive in my book, and it's an interesting listen overall.
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