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Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of u...

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Detalles Bibliográficos
Autores principales: Kirk, Edwin P., Delatycki, Martin B., Laing, Nigel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539927/
https://www.ncbi.nlm.nih.gov/pubmed/35460079
http://dx.doi.org/10.1002/jimd.12505
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author Kirk, Edwin P.
Delatycki, Martin B.
Laing, Nigel
author_facet Kirk, Edwin P.
Delatycki, Martin B.
Laing, Nigel
author_sort Kirk, Edwin P.
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description Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of up to hundreds of genes. Such panels typically include numerous genes associated with inborn errors of metabolism (IEM). There are considerable potential benefits for families from screening, but there are also risks and potential pitfalls. The IEM community has a vital role to play in guiding gene selection and assisting with the complexities that arise from screening, including interpreting complex biochemical assays and counselling at‐risk couples about phenotypes and treatments.
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spelling pubmed-95399272022-10-14 Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard Kirk, Edwin P. Delatycki, Martin B. Laing, Nigel J Inherit Metab Dis Iciem Articles Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of up to hundreds of genes. Such panels typically include numerous genes associated with inborn errors of metabolism (IEM). There are considerable potential benefits for families from screening, but there are also risks and potential pitfalls. The IEM community has a vital role to play in guiding gene selection and assisting with the complexities that arise from screening, including interpreting complex biochemical assays and counselling at‐risk couples about phenotypes and treatments. John Wiley & Sons, Inc. 2022-05-09 2022-09 /pmc/articles/PMC9539927/ /pubmed/35460079 http://dx.doi.org/10.1002/jimd.12505 Text en © 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Iciem Articles
Kirk, Edwin P.
Delatycki, Martin B.
Laing, Nigel
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title_full Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title_fullStr Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title_full_unstemmed Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title_short Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
title_sort reproductive genetic carrier screening and inborn errors of metabolism: the voice of the inborn errors of metabolism community needs to be heard
topic Iciem Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539927/
https://www.ncbi.nlm.nih.gov/pubmed/35460079
http://dx.doi.org/10.1002/jimd.12505
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