Parent-child genetic testing for familial hypercholesterolaemia in an Australian context

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Abstract

Aim: The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods: Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL-cholesterol. Results: A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low-dose statins, with LDL-cholesterol falling significantly by 38% (P < 0.001). The estimated cost per mmol/L reduction of LDL-cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost-effective. An LDL-cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Conclusion: Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL-cholesterol concentration.

Original languageEnglish
Pages (from-to)741-747
JournalJournal of Paediatrics and Child Health
Volume54
Issue number7
DOIs
Publication statusPublished - Jul 2018

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Hyperlipoproteinemia Type II
Genetic Testing
LDL Cholesterol
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Costs and Cost Analysis
Mutation
Accidental Falls
Secondary Prevention
Health Care Costs
Parents
Guidelines
Sensitivity and Specificity

Cite this

@article{052e7c606e4d4bea85c7f6f124d9fb3a,
title = "Parent-child genetic testing for familial hypercholesterolaemia in an Australian context",
abstract = "Aim: The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods: Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL-cholesterol. Results: A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7{\%}) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low-dose statins, with LDL-cholesterol falling significantly by 38{\%} (P < 0.001). The estimated cost per mmol/L reduction of LDL-cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost-effective. An LDL-cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8{\%} and specificity of 96.6{\%} for the detection of a mutation. Conclusion: Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL-cholesterol concentration.",
keywords = "Adolescents, Children, Familial hypercholesterolaemia, Screening, Treatment costs",
author = "Jing Pang and Martin, {Andrew C.} and Bates, {Timothy R.} and Hooper, {Amanda J.} and Bell, {Damon A.} and Burnett, {John R.} and Richard Norman and Watts, {Gerald F.}",
year = "2018",
month = "7",
doi = "10.1111/jpc.13898",
language = "English",
volume = "54",
pages = "741--747",
journal = "Journal of Paediatric and Child Health",
issn = "1034-4810",
publisher = "John Wiley & Sons",
number = "7",

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TY - JOUR

T1 - Parent-child genetic testing for familial hypercholesterolaemia in an Australian context

AU - Pang, Jing

AU - Martin, Andrew C.

AU - Bates, Timothy R.

AU - Hooper, Amanda J.

AU - Bell, Damon A.

AU - Burnett, John R.

AU - Norman, Richard

AU - Watts, Gerald F.

PY - 2018/7

Y1 - 2018/7

N2 - Aim: The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods: Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL-cholesterol. Results: A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low-dose statins, with LDL-cholesterol falling significantly by 38% (P < 0.001). The estimated cost per mmol/L reduction of LDL-cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost-effective. An LDL-cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Conclusion: Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL-cholesterol concentration.

AB - Aim: The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods: Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL-cholesterol. Results: A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low-dose statins, with LDL-cholesterol falling significantly by 38% (P < 0.001). The estimated cost per mmol/L reduction of LDL-cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost-effective. An LDL-cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Conclusion: Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL-cholesterol concentration.

KW - Adolescents

KW - Children

KW - Familial hypercholesterolaemia

KW - Screening

KW - Treatment costs

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U2 - 10.1111/jpc.13898

DO - 10.1111/jpc.13898

M3 - Article

VL - 54

SP - 741

EP - 747

JO - Journal of Paediatric and Child Health

JF - Journal of Paediatric and Child Health

SN - 1034-4810

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ER -