By Nigel Praities
GPs are unable to identify cases of familial hypercholesterolaemia because they do not have access to genetic testing services, primary care experts claim.
The claim comes after a survey showed NHS managers are not commissioning services recommended by NICE guidance published two years ago.
NICE guidance, first published in 2008, recommends cascade DNA testing to confirm the diagnosis of FH and a DNA test for all children of known FH patients.
A survey of 106 PCTs in England carried out by the charity HEART UK shows only 10% of PCTs have a written plan for familial hypercholesterolaemia, and less than half have the lipid clinics recommended by NICE.
Of those, only 15% of those clinics provide cascade DNA testing in order to identify new cases of FH and only 30% provide services to children with FH.
Dr Jonathan Morrell, a GP in Hastings and a hospital practitioner in cardiology, said the findings were ‘shocking’ and meant that many cases were being missed in primary care.
Speaking at the Primary Care Cardiovascular Society meeting in Leeds last week, he said: ‘Despite a clear and uncontentious call to action and guidelines from NICE, we are still not commissioning services for FH. It is shocking,’ he said.