Genetic testing
If there’s a possibility that you or a family member has a genetic disorder, you may be referred for genetic testing. Testing determines whether you, your partner, or your children carry genes for certain inherited disorders.
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- Reasons for genetic testing
- Genetic testing: what to expect
- Risks of genetic testing
- Support for genetic testing
- Australian genetic testing and counselling services
- Genetic services in rural and regional Australia
Genetic testing examines a person’s genetic material (genes and DNA) to look for predispositions to disease or any abnormalities in genes. Depending on your situation, it can:
- make a diagnosis
- assess the risk of genetic disorder
- clarify genetic status
- predict whether a genetic disorder will cause disease
- diagnose genetic abnormalities before birth.
Genetic disorders
A genetic disorder is a condition caused by changed genetic material. An error in just one gene can be the cause of a serious medical condition or disability.
Genetic disorders include cystic fibrosis, muscular dystrophies, Down syndrome, Fragile X syndrome, haemochromatosis, haemophilia, Huntington disease, neural tube defects, as well as some forms of asthma, cancer, diabetes, epilepsy, heart disease, hearing disorder, hypothyroidism, intellectual disability, visual disorders and short stature syndromes.
Differences between genetic testing and genetic counselling
Genetic testing can identify the likelihood of passing on certain genetic diseases or disorders that are caused by an abnormal genetic make-up.
Genetic counselling is mainly about communication, education and support. It is offered when people are affected by a hereditary disorder or are at risk of one. During genetic counselling, the condition is explained, along with its possible consequences, the probability of developing or transmitting it and the ways in which this may be prevented.
Genetic testing: what to expect
A genetic test usually consists of taking a blood sample. Sometimes samples are also taken of other body fluids or tissues.
Genetic testing usually has three phases.
- collecting information, consent and preparation
- laboratory analysis
- interpreting results and providing support.
Risks of genetic testing
While genetic testing can be very helpful, there are some associated risks. Genetic testing can have huge implications for individuals and families. Providers of genetic testing have mentioned the following risks:
- Information about the genetic background of a family member may rely upon information about close relatives. It may also reveal such information.
- It is possible for genetic testing to reveal unwanted information about paternity or adoption.
- Genetic testing can raise anxiety among those tested, especially while waiting for results.
- If the results of genetic testing are not conclusive or clear cut, they may cause distress.
Support for genetic testing
The diagnosis of a genetic condition can place a lot of pressure on a family. Support is available for families and individuals who are affected by a genetic condition. Contact:
The Association of Genetic Support of Australasia (AGSA)
66 Albion St Surry Hills NSW 2010
Ph: 02 9211 1462 Fax: 02 9211 8077
Email:dianne@agsa-geneticsupport.org.au
AGSA can provide information on genetic support groups in Australasia and help you make contact with families with similar genetic conditions.
Australian genetic testing and counselling services
| ACT | Canberra Hospital Genetics |
| NSW | Centre for Genetics Education |
| NT | C/- SA Clinical Genetics Unit |
| Qld | Queensland Clinical Genetics service Royal Children’s Hospital and District Health Service, Herston Qld 4006 Ph: (07) 3636 1686 Fax: (07) 3636 1987 Email: qcgs@health.qld.gov.au |
| SA | SA Clinical Genetics Unit Women’s and Children’s Hospital, North Adelaide SA 5006 Ph: (08) 8161 7375 Fax: (08) 8161 6088 Email: cywhs.sacgs@cywhs.sa.gov.au |
| Tas | Tasmanian Clinical Genetics Service Royal Hobart Hospital, GPO Box 1060L, Hobart Tas 7001 Ph: (03) 6222 8296 Fax: 03 6222 7961 |
| Vic | Genetic Health Services Victoria Royal Children’s Hospital, Parkville Vic 3052 Ph: (03) 8341 6201 Fax: (03) 8341 6390 |
| WA | Genetic Services of Western Australia 374 Bagot Rd, Subiaco WA 6008 Phone: (08) 9340 1525 Fax: (08) 9340 1678 |
Genetic services in rural and regional Australia
The government has recognised the need for improved access to genetic services in rural, regional and remote areas of Australia and is trying to make more genetic services available.
Check the Centre for Genetics Education for a comprehensive list of services in your area. Contact the genetic service in your capital city and ask about services available to you.
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- Last reviewed21-09-2007
- References
Adams, A. (2003). Resources: What is genetic counselling? Retrieved June 8, 2007, from www.genetichealth.com
Bernhardt, B., Biessecker, B., & Mastromarion, C. (2000). Goals, benefits, and outcomes of genetic counselling: Client and genetic counsellor assessment. American Journal of Medical Genetics, 94, 189-197.
Biesecker, B., & Peters, K. (2001). Process studies in genetic counselling: Peering into the black box. American Journal of Medical Genetics, 106, 191-198.
Biotechnology Online. (n.d.). Genetic testing. Retrieved June 18, 2007, from www.biotechnologyonline.gov.au/human/gentesting.cfm
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Redfearn, M., & Fogarty, M. (2003). Resources: How to find a genetic counsellor. Retrieved June 8, 2007 from www.genetics.com.au
The Centre for Genetic Education. (2004a). Genetic fact sheet: Genetic testing and screening I - Medical applications. Retrieved June 15, 2007, from www.genetics.com.au
The Centre for Genetic Education. (2004b). Genetic fact sheet: Prenatal testing and screening for fetal abnormalities. Retrieved June 15, 2007, from www.genetics.com.au
The Centre for Genetics Education. (2005). Genetics fact sheet: Genetic counselling. Retrieved June 08, 2007 from www.genetics.com.au
Wang, C., Gonzalez, R., & Merajver, S. (2004). Assessment of genetic testing and related counselling services: current research and future directions. Social Science and Medicine, 58, 1427-1442.
- Acknowledgements
Content funded by NSW Department of Ageing, Disability and Home Care
