The role of the genetic counsellor in this setting is to provide information regarding the genetics of HBOCS and the risks of carrying and passing on a mutation, and to assist the counsellee in making informed decisions about genetic testing.
Once the appropriate analyses and risk assessments have been undertaken, the counsellee may be offered a molecular genetic test, including testing for the Afrikaner founder mutations as a first-line testing option (prices range from approximately ZAR1 600 to ZAR3 500).
8] The outputs of these tools were incorporated into the overall analysis of risk for each counsellee.
In cases where the BOADICEA or Manchester scores had not been calculated, these were computed from the pedigree data as part of the study for each counsellee (to obtain a pretesting risk output).
One counsellee opted not to undergo molecular testing for personal reasons, and 14 did not follow through with providing a blood sample for testing.
A BOADICEA risk score and a Manchester score were calculated for each counsellee, based on personal and family history alone; molecular results were excluded from these calculations so that a pretest prediction of identifying a pathogenic BRCA mutation could be performed.
No formal guidelines currently exist to assist genetic counsellors or their counsellees in determining whether founder mutation analysis is sufficient or whether additional testing should be pursued following a negative result for the founder mutations identified in this population group.
Centres differed in the reduction of cancer worry reported by counsellees, but these differences were not clinically significant.
Therefore cancer genetics service staff should be aware of the potential for distress and aim to build a multidisciplinary team skilled to provide optimal care, guided by clinical guidelines and protocols to support their interventions, together with standard information sources for their counsellees.
The authors of this latter chapter, on psychological and psychiatric counseling via the Internet, say that while it offers attractions to therapists and counsellees
, alike, it also poses huge problems and dangers, among them questions of confidentiality, responsibility, and the ability of the patient to assess the competence of the therapist (pp.