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

Ethical issues

1. The ethical principles that guide all medical care apply in genetics. However, ethical dilemmas arise when there is tension or conflict between the rights of different family members.
   
2. Key ethical principles include:
3. Justice (all should be treated equally, and there should be equity of access to services regardless of place of residence, ethnicity, gender, religion, age or disability)
   
4. Respect for autonomy (the right of an individual to self-determination, including privacy and confidentiality)
   
5. Beneficence (taking positive action to do good)
   
6. Non-maleficence (do no harm)
7. There can be tensions when these principles are considered with respect to the right of an individual to:
8. Know, or not to know, information relevant to their own health (autonomy)
   
9. Disclose, or not, personal information (privacy)
   
10. Make an informed decision regarding genetic testing
11. Genetic counselling emphasises that an autonomous choice be made, ie a choice that is informed, reflective of the individual’s own values and made freely (without coercion). However, ethical dilemmas may arise, eg:
12. As a result of genetic testing, an individual’s result may disclose the genetic status of another family member who has not had testing (and may not wish to), eg identical twins
    
13. An individual refuses to disclose to other family members that they are at risk
    
14. Parents request that their child (under 18 years) be tested for an adult onset condition where there is no health benefit for the child, thus affecting the child’s future autonomy
    
15. In any of these situations, it is important to explore with the individual the potential harms and benefits and their reasons for their request. Referral to Genetics Services for counselling is strongly recommended (see Contacts, support and testing)

Copyright | Disclaimer | Privacy