cascade screening

cascade screening

Systematic identification and testing of members of the family of a proband with a particular disease of interest.
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Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.
This paper presents a case for the prevention of the lysosomal storage disorders as a model for other inherited metabolic disorders in the form of antenatal testing and cascade screening for couples and families at risk of having affected off-springs and compares it to the cost incurred on the enzyme replacement therapy in the backdrop of the health care priorities of Pakistan, a low middle income country.
The availability of highly effective statin therapy for patients with FH ensures that diagnosis of this disease through genetic testing in a proband, and follow on cascade screening of the family, can have substantial health benefits, which has led to national efforts in some countries.
Cascade screening involves testing lipid levels in all first-degree relatives of the index case.
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.
At present, in the absence of newborn screening in Pakistan, high-risk screening and cascade screening involving relatives of index patient to identify asymptomatic patients and carriers can help in achieving favourable outcome.
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.
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.
This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques (Southern blot and PCR) and to perform cascade screening of the rest of the family to offer them adequate genetic counseling.
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.