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

1. Familial cancer describes clustering of certain cancers in families. Only 5 to10% of cancers involve a
   strongly inherited predisposition.
2. Familial cancers are usually characterised by:
3. Multiple close relatives on the same side of the family with cancers of the same or related type
4. Cancers occurring at an early age
5. An individual with two or more primary cancers of the same or different type

 

Familial cancer services

 

1. These services provide risk assessment, genetic counselling and, if appropriate, genetic testing for a
   causative mutation where there is a strong family history of cancer and/or where tumour testing suggests
   a genetic susceptibility to cancer.
2. Predictive genetic testing to determine risk in unaffected members of high risk families requires the
   identification of the family-specific mutation in the gene involved. Mutation searching for familial cancer
   mutations is an expensive and often lengthy process that can potentially produce 'uninformative' results
   (see Contacts, support and testing).
3. Those found to have inherited a gene mutation that confers a high risk of developing cancer can be offered individualised cancer screening and strategies for prevention.
4. Blood relatives proven not to have inherited the family-specific mutation still have an average risk of
   developing the cancer based on their age and should follow recommendations for population screening.
   However, they can be spared the intensive screening needed by someone who has/may have the mutation.
5. Sometimes a causative mutation cannot be found in a person with a strong family history or clinical
   expression of a cancer known to involve genetic susceptibility. In this case, it cannot be presumed that a
   mutation is not present. Therefore 1° relatives should be considered to be at 50% (or 1 in 2) risk of having
   inherited a mutation and participate in a screening and prevention program according to appropriate guidelines.

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