Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

American Journal of Medical Genetics. Part a
J K MorrisN J Wald

Abstract

Our aim was to evaluate "cascade testing" as a method of screening a population for autosomal recessive disorders. We used computer simulations to estimate screening performance according to carrier frequency, whether testing would extend to siblings, first or second cousins of identified carriers and family size. Cascade testing in populations with the distribution of family size current in England and Wales would require locating and testing a small proportion of the population as expected, but would detect few cases. For cystic fibrosis (carrier frequency of 4%), testing all siblings and first cousins of all identified carriers would require locating and testing only 1.9% of the whole population, but would detect only 15% of all new cases. Similarly for congenital adrenal hyperplasia (carrier frequency of 1%), testing all siblings and first cousins of all identified carriers would require locating and testing only 0.1% of the whole population, but would detect only 3.1% of all new cases. The detection rate increases with increasing carrier frequency, family size and extending the testing to second cousins of identified carriers, but at the cost of greater increases in the proportion of the population located and tested. The ...Continue Reading

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Citations

Aug 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Phillis LakemanLeo Pieter ten Kate
Sep 15, 2007·BMJ : British Medical Journal·David S WaldNicholas J Wald
Nov 17, 2007·BMJ : British Medical Journal·David S WaldNicholas J Wald
Apr 27, 2010·Paediatric Respiratory Reviews·Bronwyn Culling, Robert Ogle
Mar 17, 2016·European Journal of Human Genetics : EJHG·Lidewij HennemanBorut Peterlin
Feb 3, 2015·European Journal of Medical Genetics·Inge B MathijssenMerel C van Maarle
Mar 30, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sari LiebermanEphrat Levy-Lahad
Jan 20, 2005·European Journal of Human Genetics : EJHG·Ainsley J Newson, Steve E Humphries
Jan 22, 2008·Community Genetics·Poupak JavaherJorg Schmidtke
Jul 13, 2005·Prenatal Diagnosis

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