The Genetic Consultation
Genetic counselling involves three main steps:
- making an accurate diagnosis,
- describing the consequences of the disorder, the probability of developing and transmitting it,
- discussing the ways in which this may be prevented or ameliorated.
Usually only the consultant and genetic counsellor will be present during the clinic session; occasionally a doctor in training may also be present. It is very unusual for anyone else to be present, and of course families will be asked for their permission. Genetic clinic appointments are generally for 30-45 minutes.
The information is given in a non-directive manner as it is important that the family reach their own decisions. The risk of transmitting a disorder, the severity of a disorder, the availability of prenatal diagnosis, and moral, social and religious convictions influence people as they consider the options which are available to them. Support is offered to the family whilst they come to terms with often very different decisions.
Families may need to consider several options, and their choice depends on many factors: indeed the choice they make may be different at different times in their lives.
Options Options include:
- presymptomatic tests to institute surveillance or early treatment,
- no (more) children,
- accepting the risk,
- prenatal diagnosis,
- adoption,
- artificial insemination by donor,
- in
vitro fertilisation and embryo transfer.
After the Clinic It is usual for a letter to be sent to the patient outlining the discussion in the clinic, with copies of this letter to the referring doctor and any other clinicians involved (for instance, paediatricians, obstetricians).
Ongoing Follow-up of Families Many families are seen only once in the genetic clinic, although they may always recontact us if they wish to be seen again. For some diseases it is vital that the family is reviewed, for instance to organise carrier detection tests when a child reaches a particular age. Patients and families give permission for us to contact them at the appropriate time so that family members can be offered genetic counselling and carrier tests where appropriate.
This page was last modified on Fri Feb 12 2010
