"Expected outcomes include greater diagnoses, more effective cascade testing
, initiation of therapies at earlier ages, and more accurate risk stratification," the authors write.
"So far, almost 2,000 people across the UK have been diagnosed with the faulty gene through BHF funded cascade testing
Through our vital research, our life-saving CPR training, and our cascade testing
programme to identify people with familial hypercholesterolemia (FH) which causes heart attacks, we will further improve the lives of people in Wales."
Although they differ in detail and emphasis, there are several common threads (reviewed in (14)), including the utility of genetic testing to confirm the diagnosis and apply it in cascade testing
of the relatives, which is a cost-effective approach to find new cases (15-17).
This will result in greater identification of FH and support cascade testing
of their relatives.
And Health Minister Edwina Hart said: "The cascade testing
service is an excellent example of partnership working between government and the voluntary sector.
The guidelines recommend the use of cascade testing
to identify those individuals who will benefit from early treatment.
Today's announcement, from the National Institute for Health and Clinical Excellence (Nice), recommends "cascade testing
" of atrisk people in England.
Milunsky pointed out that connexin-26 gene sequencing now can be ordered either as part of a cascade testing
protocol, or alone.
e programme will extend cascade testing
to eight NHS Trusts across England and Scotland, following a successful pilot scheme in Wales, jointly funded by BHF and the Welsh Government.
"The way cascade testing
works, this should not happen."