title: Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
abstract: OBJECTIVE
  Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing of relatives of those with monogenic FH.
  
  
  RESULTS
  A Markov model was used to estimate the cost effectiveness of cascade testing, using data from UK cascade services. The estimated incremental cost effectiveness ratio (ICER) was £5806 and the net marginal lifetime cost per relative tested was £2781. More than 80% of lifetime costs were diagnosis-related and incurred in the 1st year. In UK services, 23% of 6396 index cases were mutation-positive. For each mutation-positive index case, 1.33 relatives were tested, resulting overall in a rate of 0.31 tested relatives per tested index case. If the number of relatives tested per tested index case rose to 3.2 (projected by National Institute for Health and Care Excellence in 2008) the ICER would reduce to £2280 and lifetime costs to £1092.
  
  
  CONCLUSIONS
  Cascade testing of relatives of those with suspected FH is highly cost effective. The current Europe-wide high levels of undiagnosed FH, and associated morbidity and mortality, mean adoption of cascade services should yield substantial quality of life and survival gains.
authors.affiliation: Economics Department, Insight Health Economics Ltd., 16 Cambrian Road, Richmond, Surrey TW10 6JQ, UK.
authors.forename: Marion
authors.initials: M
authors.lastname: Kerr
authors.affiliation: Public Health Department, Hampshire County Council, Elizabeth II Court South, Winchester SO23 8UJ, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Pears
authors.affiliation: Department of Medical Genetics, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen AB25 2ZD, UK.
authors.forename: Zofia
authors.initials: Z
authors.lastname: Miedzybrodzka
authors.affiliation: Wales Heart Research Institute, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
authors.forename: Kate
authors.initials: K
authors.lastname: Haralambos
authors.affiliation: Northern Ireland Regional Genetics Centre, Regional Genetics Laboratories, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
authors.forename: Moyra
authors.initials: M
authors.lastname: Cather
authors.affiliation: Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.
authors.forename: Melanie
authors.initials: M
authors.lastname: Watson
authors.affiliation: Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, 5 University Street, London WC1E 6JJ, UK.
authors.forename: Steve E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003362:Cost-Benefit Analysis; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000191:economics* / Q000453:epidemiology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008390:Markov Chains; D008875:Middle Aged; D010375:Pedigree; D019057:Quality-Adjusted Life Years; D006113:United Kingdom / Q000453:epidemiology; D055815:Young Adult
keywords: Cascade testing; Cost effectiveness ; Familial hypercholesterolaemia ; Markov model 