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

Investigations

1. Genetic testing is available for the diagnosis of a symptomatic individual or for predictive testing of an asymptomatic at-risk individual.

 

Symptomatic individuals

1. Refer symptomatic patients to a neurologist or neurogenetics service for neurological assessment and
   genetic testing to confirm diagnosis.

 

Asymptomatic at-risk individuals

1. Refer to Genetics Services for discussion and counselling around predictive genetic testing.

 

Management of symptomatic individuals

1. There is currently no cure for HD.
   
2. Symptomatic treatment is available for some of the features of HD, such as chorea and depression.
   
3. Discuss informing other family members of the diagnosis with the individual (see Genetics in practice).
   
4. Suggest/encourage contact with the Australian Huntington Disease Association in their State/Territory
   (see Contacts, support and testing) for information, support, counselling, advocacy and ongoing
   monitoring of the patient’s/family’s support and service needs.

 

Management of asymptomatic at-risk individuals

1. Explore and document the family history of HD, including age of onset of affected family members.
   
2. If the individual wishes to explore their risk further, discuss direct referral to Genetics Services or neurogenetics service, or contact with a support group for information and counselling.
   
3. An appointment with Genetics Services or a neurogenetics service will involve:
4. Detailed assessment of risk and discussion of availability of genetic testing
   
5. Support during decision making regarding testing
   
6. Pre- and post-test counselling
7. Up to 80% of people at risk of HD choose not to have genetic testing prior to onset of symptoms (predictive testing) as they feel that knowledge of their genetic status would not be helpful and may increase anxiety.
   
8. If the individual does not wish to discuss genetic testing with the predictive testing service, they may still
   benefit from ongoing support and contact with an HD support group.

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