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Integration of child–parent screening and cascade testing for familial hypercholesterolaemia
OBJECTIVE: To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified per child scree...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484821/ https://www.ncbi.nlm.nih.gov/pubmed/30319009 http://dx.doi.org/10.1177/0969141318796856 |
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author | Wald, David S Wald, Nicholas J |
author_facet | Wald, David S Wald, Nicholas J |
author_sort | Wald, David S |
collection | PubMed |
description | OBJECTIVE: To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified per child screened and the associated costs. METHODS: We applied the results from the published MRC Child–Parent Screening Study to 10,000 children, together with cascade testing first degree relatives of parents with a familial hypercholesterolaemia mutation identified by child–parent screening. We estimated the number of familial hypercholesterolaemia cases identified per child screened, the median cost per familial hypercholesterolaemia case identified and the median cost per child screened to identify one case using a range of cholesterol and familial hypercholesterolaemia mutation testing costs. We present a case study to illustrate the application of CPCS in practice. RESULTS: CPCS identifies one new familial hypercholesterolaemia case per 70 children screened at a median estimated cost of £960 per new familial hypercholesterolaemia case or £4 per child screened. CPCS identifies an average of four new familial hypercholesterolaemia cases per family. In the case study, six new familial hypercholesterolaemia cases were identified, and preventive treatment started in five, with the index child expected to start when older. CONCLUSION: CPCS for familial hypercholesterolaemia are complementary strategies. The sustainability of cascade testing relies on identifying new unrelated index cases. This is achieved with population-wide child–parent screening. Integrated CPCS is currently better than either method of familial hypercholesterolaemia detection alone. It has the potential to identify all, or nearly all, individuals with familial hypercholesterolaemia in the population at low cost. |
format | Online Article Text |
id | pubmed-6484821 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-64848212019-06-03 Integration of child–parent screening and cascade testing for familial hypercholesterolaemia Wald, David S Wald, Nicholas J J Med Screen Original Articles OBJECTIVE: To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified per child screened and the associated costs. METHODS: We applied the results from the published MRC Child–Parent Screening Study to 10,000 children, together with cascade testing first degree relatives of parents with a familial hypercholesterolaemia mutation identified by child–parent screening. We estimated the number of familial hypercholesterolaemia cases identified per child screened, the median cost per familial hypercholesterolaemia case identified and the median cost per child screened to identify one case using a range of cholesterol and familial hypercholesterolaemia mutation testing costs. We present a case study to illustrate the application of CPCS in practice. RESULTS: CPCS identifies one new familial hypercholesterolaemia case per 70 children screened at a median estimated cost of £960 per new familial hypercholesterolaemia case or £4 per child screened. CPCS identifies an average of four new familial hypercholesterolaemia cases per family. In the case study, six new familial hypercholesterolaemia cases were identified, and preventive treatment started in five, with the index child expected to start when older. CONCLUSION: CPCS for familial hypercholesterolaemia are complementary strategies. The sustainability of cascade testing relies on identifying new unrelated index cases. This is achieved with population-wide child–parent screening. Integrated CPCS is currently better than either method of familial hypercholesterolaemia detection alone. It has the potential to identify all, or nearly all, individuals with familial hypercholesterolaemia in the population at low cost. SAGE Publications 2018-10-14 2019-06 /pmc/articles/PMC6484821/ /pubmed/30319009 http://dx.doi.org/10.1177/0969141318796856 Text en © The Author(s) 2018 http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Original Articles Wald, David S Wald, Nicholas J Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title | Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title_full | Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title_fullStr | Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title_full_unstemmed | Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title_short | Integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
title_sort | integration of child–parent screening and cascade testing for familial hypercholesterolaemia |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484821/ https://www.ncbi.nlm.nih.gov/pubmed/30319009 http://dx.doi.org/10.1177/0969141318796856 |
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