cascade screening

cascade screening

Systematic identification and testing of members of the family of a proband with a particular disease of interest.
References in periodicals archive ?
The National Institute for Health and Clinical Excellence (Nice) has said that those people who are at risk of FH, which can kill if undiagnosed, should be identified and diagnosed through known relatives - cascade screening.
A business case for cascade screening to find some 6,000 people at risk of familial hypercholesterolaemia (FH) has been submitted to the Welsh Assembly Government.
He said: "We welcome this guideline which focuses on offering cascade screening to the families of those who are known to be affected by FH.
Nurse-led cascade screening has proved to be an effective and inexpensive method of identifying families who have FH.
In addition to the commissioning of a cascade screening service across Wales, there needs to be a national team of specialist nurses and support staff to facilitate the roll-out of this nurse-led service.
Suzanne, who works for a law firm, added: "There was a big gap between finding out I had high cholesterol and being diagnosed with FH but now, with this programme of cascade screening in place, there won't be such a delay for other families in Wales.
The cascade screening technique will be employed and close co-operation with cardiological colleagues will be maintained.
In the first instance, cascade screening, genetic counselling and molecular testing will be undertaken in the large South African family in which a unique mutation has been detected.
NICE is expected to recommend that all FH patients are offered a DNA test with subsequent cascade screening to be performed where the mutation is identified in a patient.
Recommendations also advocate that once an activating mutation has been found in one family member (the index case), cascade screening of that mutation in first-degree relatives of the index case should be conducted to further assist in case identification and improve patient outcomes.
The recent roll-out of an All-Wales genetic cascade screening programme for familial hypercholesterolemia (All-Wales FH Testing Service) aims to reduce the social, economic and emotional burden of this under diagnosed condition.