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Review
. 2023 Jan;64(1):53-58.
doi: 10.4103/singaporemedj.SMJ-2021-329.

Pitfalls in clinical genetics

Hui-Lin Chin  1 , Denise Li Meng Goh  1
Affiliations
Review

Pitfalls in clinical genetics

Hui-Lin Chin et al. Singapore Med J. 2023 Jan.

Abstract

With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ethylenediaminetetraacetic acid tube and receiving a test report. This is identical to sending off a full blood count. However, it is far more complex than that. There are many potential pitfalls, as shown by the increasing number of complaints and lawsuits filed against doctors and allied health staff. Furthermore, clinical genetics involves more than just ordering tests; in fact, focusing on genetic tests alone is a potential pitfall. In this review, we discuss the common pitfalls in clinical genetics and how doctors can avoid these pitfalls to ensure patient safety and to safeguard their practice.

Keywords: Doctors; genetic test; informed consent; negative results; variant of uncertain significance.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Graphs from Genetics Testing Registry (GTR®). The GTR® provides a central location for voluntary submission of genetic test information by test providers (labs). The graphs show that the number of “Tested conditions”, “Tested Genes”, “Labs” and “Tests” listed in the registry have been increasing over the years and that there are about 75,000 different clinical genetic tests listed in the registry in 2022. [Reproduced from: National Library of Medicine. Available from: https://www.ncbi.nlm.nih.gov/gtr/. Last accessed on 18 Aug 2021]
See this image and copyright information in PMC

References

    1. Ministry of Health, Singapore. MOH Circular No. 234/2020. Updates to code of practice on the standards for the provision of clinical genetic/genomic testing services and clinical laboratory genetic/genomic testing services. [Last accessed on 18 Aug 2021]. Available from: https://www.moh.gov.sg/docs/librariesprovider5/licensing-terms-and-condi....
    1. Ministry of Health, Singapore. A guide to the provision of nonclinical genetic testing. [Last accessed on 18 Aug 2021]. Available from: https://www.moh.gov.sg/docs/librariesprovider5/resources-statistics/guid....