"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."