Benefits Of Genetic Testing

2. The term “genetic testing” covers an array of techniques and can be defined as the analysis of human DNA, RNA, genes and/or chromosomes or the analysis of human proteins or certain metabolites, with the primary purpose of detecting a heritable genotype, mutation, phenotype or karyotype . Genetic tests are used as a health tool to detect gene variants associated with specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In clinical testing, genetic tests can be performed to determine the genetic cause of a disease, confirm a suspected diagnosis, predict future illness, detect when an individual might pass a genetic mutation to his or her children, and predict response to therapy. They are also performed to screen new born, foetuses or embryos used in in-vitro fertilisation for genetic defects.

3. The variety of genetic tests has greatly expanded and becoming increasingly accessible with the advances in science and technology. Genetic testing can have important consequences for the health of an individual, influencing their decision to take difficult, life-changing decisions on high-risk health issues such as undergoing a preventive mastectomy if they test for the BRCA gene mutation. While there are existing regulation and oversight to promote the quality of laboratories involved in clinical testing, there is a need customise and enhance the regulations specific for clinical genetic testing.

SCOPE

4. This paper focuses on genetic testing offered in clinical context, used for diagnosis of diseases, predictive genetic testing often carried out before any clinical signs of the disease or condition appear and the testing of heritable DNA variants that predict the response profile ...

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.... Getting the Healthcare Family Ready

23. Laboratory personnel should be educated and trained to possess expert knowledge of genetic principles, the technologies employed, the limitations of the tests used, an appropriate understanding of the clinical implication of the tests result and how to communicate this information. The healthcare professionals providing the tests should be trained and have experience in ordering genetic tests and interpreting the results. This includes the nursing family who interacts with the patients and their families daily. In addition, there is a need to develop more genetic counsellors to ensure that effective pre and post-test counselling can be provided to the patients. The Genetic Testing Advisory Committee will be coming up with the recommendations to develop the Healthcare family’s knowledge and capability in genetic testing.