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

Privacy and confidentiality

1. The results of a genetic test may be of interest to third parties.
2. Test results, and the fact that the person has undergone testing, must be kept confidential, unless the
   person tested gives consent to release of the information.
3. The Privacy Amendment (Private Sector) Act 2000 (Cth) and the National Privacy Principles (NPPs) set
   out in that Act are relevant to the handling of genetic information by GPs:
4. The issue of prohibition of the collection of health information without consent in NPP 10.1 of the
   Privacy Act (such as in the process of taking a family history) was addressed in December 2002 with
   the declaration a public interest determination (PID). The PID is in place for a period of up to five
   years and states that:

 

Health service providers may collect health information from health consumers about third parties without consent when both of the following circumstances are met:

1. Collection of the third party’s information into a health consumer’s social, family or medical history is necessary to enable health service providers to provide a health service directly to the consumer; and
2. The third party’s information is relevant to the family, social or medical history of that consumer.

 

1. The Privacy Legislation Amendment Act 2006 (Cth) passed in September 2006
2. States that genetic information in a form that is, or could be, predictive of the health of the
   individual or a genetic relative of the individual is regarded as ‘health information’ and therefore
   how it is handled is now governed by the Privacy Act
3. Amended NPP 2.1 to allow use or disclosure of genetic information about an individual to a
   genetic relative in circumstances where the genetic information may reveal a serious threat to a
   genetic relative’s life, health or safety, but not necessarily an imminent threat. Any such use or
   disclosure will have to be done in accordance with guidelines relating to the use and disclosure
   of genetic information. The guidelines will be issued by the National Health and Medical
   Research Council and approved by the Privacy Commissioner
4. For further discussion of these issues see ‘Informing other family members’.

 

Interpreting genetic test results

1. Molecular genetic test results are expressed in several ways:
2. Description of the mutation type and the resulting amino acid sequence within the protein or polypeptide chain; or
3. Description of the site of the mutation in the DNA sequence. This may include whether the mutation
   was detected in one of the exons (the part of the gene that is transcribed and translated into the
   protein) or introns (the untranslated intervening sequences between the exons in the gene)
4. Analysis of the resulting protein from the gene being studied

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