TRANSCRIPT

Genetic markers have been promised for many years. Are there any genetic markers currently used in clinical practice, and how are they performing?
I think it’s a really important question because genetic disease is increasingly recognised as an important problem in different specialties, including cardiovascular medicine.

And in some ways cardiology has been ahead of the game.

We have a number of cases where genetic testing has almost been routine. A good example is Long QT-Syndrome where knowing the gene not only makes the diagnosis, but is also helps you stratify the patient in terms of their risk and their therapy.

I think what’s really changed now is that we know have technology available – next generation sequencing – which allows us to do genetic testing at high volume and low cost. So we’re starting to see the establishment of genetic services in cardiovascular medicine with specialist clinics and multi-disciplinary teams.

And already we’re starting to see the application of genetic testing in everyday practice.

Is there any ongoing research in this area that is showing promise?
There’s a huge amount of research going on in genetics now. We have – not only identifying genetic variants, but we’re also starting to understand why it is these variants express themselves in different ways with different individuals in the same family.

I think we’re going to see the application of this research in the next five to 10 years.

And then we’ll start to develop therapies. Already, for example, in my field – which is genetic heart muscle disease – we’re starting to see trials that are actually using genetic information to stratify patients for gene therapy.