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

Talking about genetics

 

When an individual is identified as affected by, or at risk of, a condition with a direct or contributory genetic basis, the impact ripples though the family. It is the family dimensions and impact that can make a genetic consultation different.

 

Consumers’ perspective

 

1. A recent study exploring Australian consumers’ views regarding the management of genetic conditions by GPs highlights a number of key points related to counselling skills in the general practice:
2. The GP’s role is perceived as one that should manage the patient in a holistic manner. This encompasses the patient’s medical history, their family, as well as their emotional health
   
3. The GP is viewed as a health care provider with whom a long-term relationship is likely to develop.
   Given good interpersonal skills, this will allow a patient and their family to develop trust and confidence in the GP over time
   
4. Families living with rare genetic conditions often have considerable understanding of the condition.
   GPs need to consider the patients’ and families’ expertise, as consumers can be a useful source
   of information

 

Common misconceptions about genetics

 

An individual’s physical similarity to other relatives will indicate their risk of developing
a condition, eg ‘My father has the condition, but I look like my mother, so I’m OK’.

 

Conditions affecting mostly women (eg breast cancer) can only be inherited through the maternal line.

A condition only affects one gender in a family eg when only men in a family have or had Huntington disease, the women are not at risk.

Tests are available for all inherited conditions.

The presence of a mutation means that an individual will definitely develop the condition, even though the risk is not 100% (incomplete or reduced penetrance), eg ‘I have the breast cancer gene, therefore I am going to get cancer’.

A ‘one in four’ risk means that after one child is affected, the next three will be unaffected.

If a condition is dominantly inherited, then the mutated gene is ‘stronger’ and will be passed on more often, so more people will be affected than unaffected.

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