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...
| Main Authors: | , , , , , |
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| Other Authors: | |
| Format: | Journal Article |
| Language: | English |
| Published: |
2023
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| Subjects: | |
| Online Access: | https://hdl.handle.net/10356/169416 |
| _version_ | 1811694733005684736 |
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| author | Shaw, Tarryn Fok, Rose Courtney, Eliza Li, Shao-Tzu Chiang, Jianbang Ngeow, Joanne |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Shaw, Tarryn Fok, Rose Courtney, Eliza Li, Shao-Tzu Chiang, Jianbang Ngeow, Joanne |
| author_sort | Shaw, Tarryn |
| collection | NTU |
| 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. |
| first_indexed | 2024-10-01T07:12:16Z |
| format | Journal Article |
| id | ntu-10356/169416 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T07:12:16Z |
| publishDate | 2023 |
| record_format | dspace |
| spelling | ntu-10356/1694162023-07-23T15:38:00Z Missed diagnosis or misdiagnosis: common pitfalls in genetic testing Shaw, Tarryn Fok, Rose Courtney, Eliza Li, Shao-Tzu Chiang, Jianbang Ngeow, Joanne Lee Kong Chian School of Medicine (LKCMedicine) National Cancer Centre, Singapore Duke‑NUS Medical School Science::Medicine Adverse Outcomes Cancer 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. Published version Ngeow J receives funding from AstraZeneca for cancer research. 2023-07-18T02:39:21Z 2023-07-18T02:39:21Z 2023 Journal Article Shaw, T., Fok, R., Courtney, E., Li, S., Chiang, J. & Ngeow, J. (2023). Missed diagnosis or misdiagnosis: common pitfalls in genetic testing. Singapore Medical Journal, 64(1), 67-73. https://dx.doi.org/10.4103/singaporemedj.SMJ-2021-467 0037-5675 https://hdl.handle.net/10356/169416 10.4103/singaporemedj.SMJ-2021-467 36722519 2-s2.0-85147186847 1 64 67 73 en Singapore Medical Journal © 2023 Singapore Medical Journal. Published by Wolters Kluwer - Medknow. 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. application/pdf |
| spellingShingle | Science::Medicine Adverse Outcomes Cancer 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 | Science::Medicine Adverse Outcomes Cancer |
| url | https://hdl.handle.net/10356/169416 |
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