cascade testing

cascade testing

Lab medicine The sequencing of tests to diagnose a disease or process–eg, fetal lung maturity; CT is appropriate when a 'gold standard' method is technically demanding and/or costly and the diagnosis can usually be established by simpler or more cost-effective strategies. Cf Reflex testing.
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"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.
This will allow the development of a regional FH database to identify the current Northern Ireland FH population, and specialist nurses will provide cascade testing for FH.
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."