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Missed diagnosis or misdiagnosis: common pitfalls in genetic testing

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indicat...

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Autores principales: Shaw, Tarryn, Fok, Rose, Courtney, Eliza, Li, Shao-Tzu, Chiang, Jianbang, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979802/
https://www.ncbi.nlm.nih.gov/pubmed/36722519
http://dx.doi.org/10.4103/singaporemedj.SMJ-2021-467
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author Shaw, Tarryn
Fok, Rose
Courtney, Eliza
Li, Shao-Tzu
Chiang, Jianbang
Ngeow, Joanne
author_facet Shaw, Tarryn
Fok, Rose
Courtney, Eliza
Li, Shao-Tzu
Chiang, Jianbang
Ngeow, Joanne
author_sort Shaw, Tarryn
collection PubMed
description Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.
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spelling pubmed-99798022023-03-03 Missed diagnosis or misdiagnosis: common pitfalls in genetic testing Shaw, Tarryn Fok, Rose Courtney, Eliza Li, Shao-Tzu Chiang, Jianbang Ngeow, Joanne Singapore Med J Case Series Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated. Wolters Kluwer - Medknow 2023-01-19 /pmc/articles/PMC9979802/ /pubmed/36722519 http://dx.doi.org/10.4103/singaporemedj.SMJ-2021-467 Text en Copyright: © 2023 Singapore Medical Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Series
Shaw, Tarryn
Fok, Rose
Courtney, Eliza
Li, Shao-Tzu
Chiang, Jianbang
Ngeow, Joanne
Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title_full Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title_fullStr Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title_full_unstemmed Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title_short Missed diagnosis or misdiagnosis: common pitfalls in genetic testing
title_sort missed diagnosis or misdiagnosis: common pitfalls in genetic testing
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979802/
https://www.ncbi.nlm.nih.gov/pubmed/36722519
http://dx.doi.org/10.4103/singaporemedj.SMJ-2021-467
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