Giving results and post-test genetic counselling

 

  1. Careful consideration should be given to the way results are conveyed. This time is also an opportunity to explain again the implications of the result.
  2. Recognise the issues associated with genetic testing as outlined in ‘Considerations in genetic testing’.
  3. Ensure that patients are fully informed about their residual risk due to the complexity of inheritance or environmental factors.
  4. Notification of a result (whether positive, negative or uninformative) may precipitate a crisis and the person may for some time be unable to absorb any information.
  5. Appropriate pre-test genetic counselling may help to reduce post-test anxiety.
  6. Post-test genetic counselling and follow-up support may require several consultations.
  7. The genetic counselling needs to be sensitive to the nature of decisions to be taken, should respect individual decisions, and should allow time to reach decisions.
  8. Appropriate follow-up when an abnormality is detected may require referral to other health professionals for treatment or management, professional genetic counselling services, other professional services, or support networks.
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Implications for other family members

  1. Information provided to one individual about a genetic condition may also be relevant to other family members.
  2. Conversely, assessment of an individual’s risk may require information from other family members.
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Informing other family members

  1. It is generally accepted that an individual has a responsibility to inform his/her family if they are at risk of a genetic condition as well as a right to the privacy and confidentiality of his/her genetic information.
  2. There is no established legal duty to warn in Australia.
  3. It is good practice to discuss with the individual the implications of the diagnosis or risk, including which family members should be informed and how they might be approached. In fact, individuals may often be concerned for other family members and want this information.
  4. Genetics Services can provide guidance about which family members should be informed. If the individual has been seen by Genetics Services, this is likely to have been discussed with them.
  5. Informing family members can be difficult and it is preferable that other family members contact Genetics Services or their own GP for a thorough explanation of their situation. Where possible, providing a letter or simple written information with contact details that can be given to other relatives can be useful.
  6. Helpful techniques include asking how the individual will tell other family members and preparing them for possible reactions to the news (eg denial, fear and anger). If other family members are also patients of your practice, consent could be obtained to discuss this issue with them at their next appointment.
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Asking for information from other family members

  1. Information may be required from other family members to assess an individual’s risk. People may feel uncomfortable asking for this information.
  2. Discuss how they may approach the person (in person, phone call, letter).
  3. Explain the reasons for needing the information and give the individual some idea of how essential (or otherwise) the information is. They can then weigh the benefits of gaining this information against the difficulties of making contact.
  4. Consider providing a letter supporting the request for the individual to give to family members.
  5. Ask Genetics Services to seek written consent from other family members to access the relevant medical information.
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