1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Related genetics services

 

Other genetics specialty services

1. Clinical genetics centres sometimes work in conjunction with clinical services in hospitals that provide treatment. The specialty Genetics Services can provide the essential counselling associated with risk assessment, management advice for specific conditions, and carrier and pre-symptomatic genetic testing where it is available.
2. Information regarding the availability of clinics which specialise in diagnosis, management and genetic counselling for particular conditions or syndromes such as those listed below, is available from Genetics Services:
3. Blood conditions, eg thalassaemia
4. Cancer, eg breast, colon, melanoma
5. Adult-onset neurological conditions

 

Registers

1. Birth defects registers that have been established in each State and Territory are population-based surveillance systems. Data collection policies and the periods of collection vary between the registers.
2. See contact list for details for the Birth Defects Registers (where available) in each State and Territory.
3. Registers for a range of familial cancers have been established to assist in the management of people with an inherited predisposition to develop specific cancers. Registration allows patients and their family
   members to be followed and monitored with respect to cancer screening, prevention and the early detection of symptoms. Individuals opting for registration have been shown to have a reduced risk, for example, for colorectal cancer as patients are educated about their condition, advised and reminded about screening procedures, and advised when prophylactic surgery should be considered.

 

Laboratory genetics services

1. Laboratory services refer to the range of chromosomal, biochemical and DNA testing that can be undertaken to diagnose a particular genetic condition, to determine whether an individual is a ‘carrier’ of a mutation for a particular condition even though he/she may be unaffected, or to assess whether a person will, or is likely to, develop a condition later in life.
2. Laboratory services include newborn screening, maternal serum screening, cytogenetic, biochemical and molecular testing, including carrier, predictive and pre-symptomatic genetic testing.
3. For information regarding laboratory services please contact Genetics Services.

 

Education and health promotion

1. Programs of education and health promotion coordinated by Genetics Services have been designed to raise awareness amongst health, education, welfare professionals and the community of the importance of the contribution of genetics to family health.
2. Genetics Services support programs that help reduce the occurrence of birth defects, eg folate prevention of spina bifida and screening programs that help identify individuals or pregnancies at risk of birth defects, eg first and second trimester prenatal screening and newborn screening programs.
3. Condition-specific education programs, for example related to particular cancers or haemochromatosis, have been established in many areas.
4. Many support groups for particular genetic conditions are active in raising community awareness through a combination of family and genetic health professional involvement.

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