Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing.
10.4103/singaporemedj.SMJ-2021-467
- Author:
Tarryn SHAW
1
;
Rose FOK
1
;
Eliza COURTNEY
1
;
Shao-Tzu LI
1
;
Jianbang CHIANG
2
,
3
;
Joanne NGEOW
2
,
4
,
5
Author Information
1. Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
2. Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore
3. Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore.
4. Oncology Academic Clinical Program, Duke-NUS Medical School
5. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.
- Publication Type:Journal Article
- Keywords:
Adverse outcomes;
cancer;
genetic services;
misdiagnosis;
mismanagement
- MeSH:
Humans;
Missed Diagnosis;
Genetic Testing;
Educational Status;
Diagnosis, Differential;
Genotype
- From:Singapore medical journal
2023;64(1):67-73
- CountrySingapore
- Language:English
-
Abstract:
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.
