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Understanding Genetic Testing

Genetic testing may be considered for many different reasons and should always be discussed with a health professional. Different types of genetic tests are used depending on whether an individual’s chromosomes, the protein - product of a gene, or the DNA itself are examined.

The Centre has several Fact Sheets which provide information about a number of
different types of genetic tests.

Screening Tests During Pregnancy Diagnostic Tests During Pregnancy
Chromosome Microarray Testing (CMA) in Children & Adults
    MTHFR DNA Test
      Prenatal Testing - Overview

      Chromosome Microarray (CMA) Testing During Pregnancy

      Find a Genetic Testing Service

          Non-Invasive Prenatal Testing (NIPT)

          Genetic and Genomic Testing

          Forensic, Paternity and Ancestry DNA Testing 


          Important things to think about

          Some ethical issues in human genetics

          Ethical issues need to be considered if the benefits are maximised and the harms minimised from the increasing ability to use genetic testing to analyse an individual’s genetic information. Ethical issues that arise are generated from:

            • The shared nature and ownership of genetic information
            • Limitations of genetic testing
            • Inappropriate applications of genetic testing
            • The potential for discrimination
            • Setting boundaries in applications of the genetics technology
            • Forensic DNA databanks
            • Patenting of genes

            For more detailed information

            Fact Sheet 19: Some Ethical Issues in Human Genetics

            Fact Sheet 20: Life Insurance Products and Genetic Testing in Australia

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            Who to talk to about Genetic Testing

            DNA genetic testing should always be undertaken by a specialist genetic service. The range and extent of genetics services available will vary throughout Australian States and Territories. Very often the service is based in a specialist paediatric or obstetric department of a hospital. While it is preferable to have a referral from a doctor or specialist in order to access genetic counselling services, an appointment can usually be made without any referral. Health care interpreter services are also available.

            Find a Genetic Testing Service

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            Last updated: Jul 29, 2016