Appointments for patients at high risk, but for whom a mutation has not yet been identified in the family | Go Back |
The appointment program detailed below is a general guide and will be tailored to meet individual patient needs.
If the patient is at high risk but a mutation has not yet been identified in the family, the following will be discussed at the clinical genetics appointment:
- The patient will be informed that based on current knowledge and the information available they may be at a higher genetic risk of developing cancer than the general population.
- The family history may be discussed, details checked, and the family tree (pedigree) extended if necessary.
- The risk of specific cancers occurring, information on the mechanism of the development of sporadic cancers and those with a genetic influence will be discussed. Inheritance will explained. This information in relation to the patient's specific family history of cancer will be clarified.
- Patient management issues will be clarified. Dependent on the family history, colorectal, breast or gyaecological surveillance will be recommended. For further information see the surveillance section of the website.
- If the individual is not affected by cancer but wishes to undergo molecular testing, DNA is needed from an affected close family member. The practicalities of this will be discussed. If the affected relative is agreeable then a separate appointment will be made to clarify the issues the test will raise for that relative.
- The management of other family members will be discussed if appropriate. For example, other members of the family will also need surveillance and may wish to know their genetic status. An appointment can be offered to the other relatives either separately or together.
- The need for support networks and the possible presence of a friend or relative for support at the future appointments is identified.
- Other issues which are raised by the patient will be discussed, such as possible surgical interventions and research studies.
- A summary letter and a high risk information sheet will be sent to the patient. Future appointments will be arranged dependent on the patient's wishes and management implications.
This page was last modified on Thu Oct 01 2009



