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Wales pioneers genetic testing for heart condition

13 December 2010
Appeared in BioNews 588

A genetic testing service to identify people with Familial Hypercholesterolaemia (FH) is being rolled out across Wales. The service follows two successful FH testing pilots - one in England and one in Wales.

The rare, but potentially fatal, FH gene variant is hereditary: close relatives of someone with FH have a 50 percent chance of developing the condition. Untreated FH causes abnormally high cholesterol levels in the blood, resulting in an increased risk of early onset coronary heart disease. But, if diagnosed, the treatment available - statins and the avoidance of smoking - can restore life expectancy to normal levels.

'With lifestyle changes and medication, people with FH can reduce their risk of developing coronary heart disease - this initiative will improve the quality of life of people with FH and help to reassure the families of people with the condition', health minister Edwina Hart told Wales Online.

Patients will be offered a DNA test if they show clinical signs of FH, including abnormally high cholesterol levels. The service is using 'cascade' DNA testing. This involves seeking out family members who may have the condition and benefit from treatment. If they test positive, their first-degree relatives are offered testing. If any of these relatives are found to have FH, their relatives are also tested and so on.

Dr Ian McDowell, a consultant specialising in FH with Cardiff and Vale University Health Board, told Wales Online: 'This service will help people from all across Wales by giving them access to diagnosis and treatment that will prevent heart attacks'.

'It is an excellent example of how modern technology, combined with a network of well trained staff can work together to provide a service that can make a real difference to the lives of thousands and help prevent heart disease in many people'.

The service is being co-ordinated by the All Wales Medical Genetics Service and the Cardiac Networks of Wales and has been funded by the Assembly Government and the British Heart Foundation.

DNA testing for genetic condition to be rolled out in Wales
Wales Online |  9 December 2010
Genetic testing brings heart hope
BBC News |  9 December 2010
Wales Familial Hypercholesterolaemia Testing Service
Cardiff University School of Medicine |  24 October 2021
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