Appointments for patients at high risk, and for whom a mutation has been identified in the family

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The appointment program detailed below is a general guide and will be tailored to meet individual patient needs.

If a mutation has been identified in the family and the patient is considering having a predicative test :

The following information may be covered over the course of several separate appointments, most of which will last about 45 minutes. The appointment program detailed below is a general guide and will be tailored to meet individual patient needs.

- Appointment 1        - Appointment 2        - Appointment 3

Appointment 1

  • 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, gyanecological or other surveillance will be recommended. For further information see the surveillance section of the website. If the individual wishes to have the test, surveillance may be delayed until test results are available.
  • 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.
  • Practicalities of the predictive test and the taking of blood for DNA analysis will be addressed.
  • The need for support networks and the possible presence of a friend or relative for support at the next appointment and results appointment is identified.
  • Other issues which will be raised include the following:
    - The experience of cancer in the family and family dynamics
    - Why the individual wants the test
    - The risk perception of the patient
    - Implications of the genetic testing process
    - The implications of a positive result for the patient - need for surveillance, possible surgery (e.g. mastectomy, salpingo-oophorectomy, colectomy), research trial participation, affect on their children or the possibility of having children, psychological impact.
    - The implications of a negative result for the patient - effect on family relationships - i.e. guilt/depression if others test positive etc., surveillance issues.
  • The patient may have further questions that can be discussed.
  • A summary letter and high risk information sheet will be sent to the patient following the appointment.

Appointment 2

  • At this appointment many of the issues raised at the first appointment will be reviewed. For example, why the individual wants to have the test, what difference having the test will make, possible interventions etc.
  • If the patient is ready the consent form will be completed and blood will be taken for DNA analysis.
  • A summary letter will be sent to the patient following the appointment.

Appointment 3

  • If the patient is ready the results are given and the implications of the test outcome discussed. Also the psychological issues of the test result for the individual will raised. Even if they are found to have a mutation there is still approximately a 20% chance that they will not develop their familial cancer.
  • Implications for other family members will identified.
  • Referral to other health professionals as appropriate.
  • A summary letter will be sent to the patient following the appointment.



This page was last modified on Thu Oct 01 2009