Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews

Like the Progress Educational Trust on Facebook


The Fertility Show


 

Event Review: Heart Genetics - Predicting the Future?

13 May 2013

By Simon Hazelwood-Smith

Appeared in BioNews 704

Heart Genetics: Predicting the Future?

Organised by Imperial College London and Royal Brompton Hospital

Coffee Shop, Royal Brompton Hospital, Sydney Street, London SW3 6NP

Wednesday 8 May 2013

'Heart Genetics: Predicting the Future?', organised by Imperial College London and Royal Brompton Hospital, Wednesday 8 May 2013


I'd not been to a Cafe Scientifique event before and was a little unsure of what to expect. The Royal Brompton coffee shop setting did at first feel strange; I'm more used to discussions in lecture theatres where there is a clear distinction between audience and speaker.

But the informal setting and refreshments created an open and friendly atmosphere, which is clearly what Cafe Scientifique events are all about. They aim to bring scientists, clinicians and the public together to chat about important scientific topics without the barriers that are often present elsewhere.

The subject on offer was heart disease and genetics, with questions being answered by clinical geneticist Dr Tessa Homfray and Stuart Cook, professor of clinical and molecular cardiology at Imperial College London.

Professor Cook kicked things off with an introduction that focused on that hottest of genetic topics - next generation sequencing (NGS) technology. He spoke of the revolution its development has had on genetic research.

He gave a particularly clear example of its power when discussing a recent breakthrough. For some time, the gene TTN had been thought to play a role in the heart condition dilated cardiomyopathy (DCM), but its status as the largest gene in the human genome proved prohibitive to meaningful examination with old technology. With the advent of NGS, Professor Cook's team were able to fully screen the gene, finding mutations explaining 25 percent of all DCM. This has of course not gone unnoticed – a grant has recently been awarded by the Wellcome Trust so that a test can be developed and brought to clinic.

Dr Homfray's introduction was more patient-focused. She sought to give answers and opinions on some of the most common questions patients ask on the benefits and risks of genetic testing. She explained that genetic testing can be a double-edged sword. In some cases a test can give vital information on the best treatments and drugs to prescribe. However, in others it may prevent a teenager from being permitted to play sports they enjoy for fear of triggering a dangerous heart event. This is because not everyone who inherits a mutation will necessarily develop disease, a phenomenon known as reduced penetrance.

But there's also the reverse of that coin, Dr Homfray pointed out; the value of negative test results should not be underestimated. In the case of inherited heart conditions, a negative result has the potential to take a huge weight off a patient's mind, allowing them a much freer lifestyle.

Many of the questions that followed were from patients and relatives of patients considering the ethical implications of genetic research and testing in conditions such as these. An emotive point was raised by a woman with end-stage hypertrophic cardiomyopathy, who had given blood for research purposes but had never received any feedback. She was also concerned that the rate of discovery in this area had seemed to lag behind DCM research.

Professor Cook explained that it can take many years for results from scientific studies to be published and that even then the path to any treatment is rarely straight. Unfortunately, from a patient perspective, progress may not seem to come fast enough.

Advances are being made, though. Professor Cook and his team are working to produce large databases of patient DNA sequences paired with detailed descriptions of their symptoms. These are being used to show connections and differences between various types of heart conditions. It is Professor Cook's aim to comprehensively describe the genetic underpinnings of cardiac disease, and it is difficult not to be carried away by his enthusiasm.

Dr Homfray responded insightfully to questions relating to sudden cardiac death and screening. She felt that while the sudden death of anyone is a tragedy, routine screening of the population can bring unnecessary fear and treatment. She went on to say even slightly abnormal results sometimes lead to people having to give up active lifestyles. Given the reduced penetrance of heart conditions, there was a suggestion that we may be being over-cautious if testing without prior reason.

I found the event highly enlightening; many important questions on genetic testing were brought up and intelligent, measured responses were given by both speakers. Although I personally would have benefited from a bit more of an introduction to heart disease and the distinction between the different conditions, topics were generally discussed in layman's terms.

Overall it seems there is reason for optimism for those with and at risk of heart conditions. As Professor Cook and Dr Homfray explained, progress is being made in our understanding of genetic disease, and we can be confident that this will ultimately lead to better treatment.

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

22 February 2016 - by Dr Ashley Cartwright 
A new blood test has been developed that can accurately detect all genes known to cause inherited heart conditions, say scientists...
24 February 2014 - by Simon Hazelwood-Smith 
Genetic diagnosis of inherited diseases is now routine in the UK, with upwards of 600 different conditions tested for in NHS labs. As genetic sequencing and analysis methods become ever more effective, this figure should grow rapidly over the coming years...
02 December 2013 - by Dr Rachel Brown 
Six artists, ranging from photographers, performance groups and multimedia artists, were sent to Wellcome-funded research centres around the world. The goal of these 'foreign bodies' was to immerse themselves in scientific research for six months, and then produce some work that reflected what they learnt...
21 October 2013 - by Rebecca Carr 
For me, this extremely interesting Cafe Scientifique debate on the human egg trade in Canada shed light on many of the ongoing ethical concerns that seem to torment parties engaged in this field...
30 September 2013 - by Marco Narajos 
There is definitely great scope for expansion in genetics education through online courses, but these should be tailored towards the student's pace, however leisurely that might be...

07 May 2013 - by Siobhan Chan 
Gene therapy will be used to treat heart failure for the first time in the UK, in clinical trials being launched by the British Heart Foundation...
08 April 2013 - by Dr Greg Ball 
Genes that influence the so-called 'biological age' of cells may also influence susceptibility to many age-related diseases...
11 March 2013 - by Cristy Gelling 
In the decade since the human genome was first sequenced, the cost of reading a human genome has dropped from around US $100,000,000 to around US $6,000. In the past year the target has shifted from the '$1000 genome' to the '$0 genome'...
27 February 2012 - by Maria Botcharova 
Is medicine magic? No, of course not. The active ingredients in the medicines we take are simply chemical compounds which interact with our bodies to produce a net effect. And yet, when we take a pill and our headache promptly disappears, it can all feel a bit miraculous to someone who doesn't know the chemical mechanisms...

HAVE YOUR SAY
Be the first to have your say.

You need to or  to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions


- click here to enquire about using this story.

Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


BOOK HERE

Good Fundraising Code

Become a Friend of PET HERE and give the Progress Educational Trust a regular donation