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Parent-child genetic testing for familial hypercholesterolaemia in an Australian context
Jing Pang1, Andrew C Martin2,3, Timothy R Bates1,4
1School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
Insights
Parent-child genetic testing effectively identifies familial hypercholesterolaemia (FH) in children, enabling early statin treatment and significant LDL-cholesterol reduction. This cascade testing approach is potentially cost-effective for managing FH.
Area of Science:
- Cardiovascular Genetics
- Clinical Biochemistry
- Public Health Genomics
Background:
- Familial hypercholesterolaemia (FH) is an inherited condition leading to high LDL-cholesterol and premature cardiovascular disease.
- Early detection and treatment of FH are crucial for preventing life-threatening cardiac events.
- Parent-child testing, or cascade testing, is a key strategy for identifying affected individuals within families.
Purpose of the Study:
- To assess the clinical utility of parent-child genetic testing for familial hypercholesterolaemia (FH).
- To determine the cost-effectiveness of treating identified children with statins.
- To establish predictive markers for FH gene variants.
Main Methods:
- Genetic screening of 244 children from 126 adult FH patients according to Australian guidelines.
- Evaluation of new FH cases, LDL-cholesterol thresholds for mutation prediction, and statin treatment efficacy.
- Calculation of treatment costs based on LDL-cholesterol reduction per mmol/L.
Main Results:
- Genetic screening identified 84 out of 148 children (56.8%) as mutation-positive for FH.
- Statin treatment in 40 children led to a significant 38% reduction in LDL-cholesterol (P < 0.001).
- An LDL-cholesterol level of 3.5 mmol/L demonstrated high sensitivity (92.8%) and specificity (96.6%) for mutation detection. The estimated cost per mmol/L reduction was AU$1361.
Conclusions:
- Parent-child genetic testing is an effective method for diagnosing new cases of FH.
- Cascade testing facilitates early intervention with statins, significantly lowering LDL-cholesterol.
- Early treatment of FH in children can be a cost-effective strategy for cardiovascular risk reduction.
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.
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