S6.04: The diagnostic odyssey: A journey into genetic testing for rare diseases
Kat: Hello, and welcome to Genetics Unzipped - the Genetics Society podcast, with me, Dr Kat Arney. In this episode, supported by the MRC Human Genetics Unit in the Institute of Genetics and Cancer at Edinburgh University, we’re off on a journey to the world of rare genetic disorders, exploring the diagnostic odyssey that patients and their families go on in search of answers, the research that’s happening to understand how variations in our genes cause disease, and new approaches for treating these conditions.
Kat: Before we start, a few things to draw your attention to from The Genetics Society.
1st March is the deadline for the Society’s next round of public engagement grants, with small grants up to £1000 and larger grants up to £5000 available to support online or in-person public engagement activities relevant to genetics. It’s a great opportunity to spread the word to the wider world, so get in there quick if you’re interested.
The 3rd of March is the deadline for abstract submission for The Genetics Society’s 2023 Spring conference on gene regulatory networks, to be held at St Catherine’s College Oxford on 12th-14th April. And don’t forget that early-bird cheap registration also closes on 6th March.
And finally, tickets are still available for the upcoming For Your Inspiration event at the Royal Institution in London from 6 to 9pm on 17th March, in partnership with The Genetics Society. Aimed at young people aged 13 and upwards, as well as adults, there will be a stimulating talk as well as hands-on activities with researchers from around the country, showing how they are using cutting edge genetics research to learn more about the amazing diversity of life on our planet. Standard tickets are £16 or £10, £7 for RI members and patrons, and free for RI young members.
You can find links to all these events and activities on the page for this podcast at Geneticsunzipped.com
Kat: The 28th February is Rare Disease Day- a chance to raise awareness and generate change for people living with a rare condition.
According the scientific definition, a rare disease is one that affects fewer than one in 2,000 people in the general population. But given that there are many thousands of rare conditions, it actually adds up to a lot - there are around 300 million people around the world living with a rare disease, making roughly one in 17 people. So, not so rare at all if you think about it like that.
To find out more about rare diseases caused by genetic changes - how they’re diagnosed, researched and treated, we’ve teamed up with the MRC Human Genetics Unit within the Institute of Genetics and Cancer at the University of Edinburgh. They’re on a mission to accelerate understanding of how genetic variations and alterations, whether inherited or acquired during life, drive the dysfunctional processes that result in genetic diseases and cancer.
Natalie Frankish: From a Diagnostic Odyssey to a Good Diagnosis
An idea commonly heard in the rare disease community is the ‘Diagnostic Odyssey’ - the lengthy and frustrating journey from first noticing that something isn’t right and going to the doctor to actually receiving a diagnosis. It’s a process that can take many years, with seemingly endless tests along the way. To start our journey into the heart of rare diseases, I spoke to Natalie Frankish, policy and engagement manager for Scotland for Genetic Alliance UK - an organisation supporting people with rare, genetic and undiagnosed conditions - to find out what this diagnostic odyssey is usually like for children and families affected by rare genetic disorders.
Professor Zosia Miedzybrodzka: Expanding genetic testing for rare diseases
One of the things that can bring this so-called diagnostic odyssey to a conclusion is genetic testing, pointing the finger at an underlying gene fault that has led to the condition. Zosia Miedzybrodzka is Professor of Medical Genetics at the University of Aberdeen, and is also Clinical Director of Genetics for NHS Grampian among other roles, so she’s the perfect person to ask about how testing for rare genetic diseases has changed over the years, and where it’s heading in the future.
Dr Joe Marsh at the MR Human Genetics Unit is trying to figure out how variations in the genome might cause disease.
While the technology underpinning genetic testing is progressing fast, with millions of human genomes now sequenced around the world, simply having a DNA sequence doesn’t always give you an answer as to the underlying cause of a genetic condition. There’s no such thing as a ‘perfect genome’, and there are many variations between people - some of which may be perfectly harmless, and others that may be the root cause of a genetic disease. But how do you tell the difference?
Professor Yanick Crow: Testing a new treatment for Aicardi–Goutières syndrome
Finally, while getting a diagnosis of a rare disease is incredibly important for patients and their families, it also opens up more questions, such as whether there is any treatment. As we understand more about the gene alterations that underpin rare diseases and how they affect the underlying biology of the body, this can provide vital leads towards new approaches for therapy.
That’s all for now.
We’ll be back next time taking a look at the ins and outs of cutting and pasting DNA, exploring the ethics of gene editing and taking a trip to a new exhibition exploring this very subject at the Francis Crick Institute in London.
For more information about this podcast including show notes, transcripts, links, references and everything else head over to geneticsunzipped.com You can find us on Twitter @geneticsunzip and please do take a moment to leave us a rating in the Spotify app or review us on Apple podcasts - it really makes a difference and helps more people discover the show.
This episode of Genetics Unzipped was written and presented by me, Kat Arney. It’s a First Create the Media production for The Genetics Society - one of the oldest learned societies dedicated to promoting research, training, teaching and public engagement in all areas of genetics. You can find out more and apply to join at genetics.org.uk. Our theme music was composed by Dan Pollard, and the logo was designed by James Mayall, audio production was by Emma Werner and our producer is Sally Le Page. Thanks for listening, and until next time, goodbye.
