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

GP's role

1. Take, and keep updated, a family history (see Genetics in practice), including:
2. Three generations, maternal and paternal 1° and 2° relatives (where possible).
3. Cultural and ethnic background, eg gene mutations associated with breast and ovarian cancer are more common in Ashkenazi Jews.
4. The primary site and age at diagnosis of any cancer (where possible). For those people who have imprecise knowledge of cancer in their relatives, death certificates are a good source of information.
5. Using the family history, assess risk according to national guidelines: average or slightly above average, moderate and potentially high risk.
6. If you are unsure about the significance of the family history, contact a familial cancer service for advice (see list of familial cancer services).
7. Manage average/moderately increased risk patients using the management guidelines.
8. Refer patients identified at potentially high risk to a familial cancer service or Genetics Services

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