Multiple national1 and international2 guidelines recommend that genetic testing is provided by genetic experts in the context of genetic counselling. However, there has been little research performed assessing the utility of genetic counselling. This study was performed to determine the value of genetic counselling for individuals undergoing breast cancer genetic testing.
GeneHealth UK clinical records for patients seen between the 1st January 2018 and 30th June 2018 for breast cancer were reviewed to determine what was discussed during the consultations. Data was collated in four categories: a) appropriateness of genetic testing, b) psychological support, c) implications for relatives d) management guidance.
Of a total of 130 patients, 74% (96) had breast cancer, and 26% (34) had a family history. 10% of tested patients had a pathogenic genetic variant. 98% of patients had at least one discussion in the assessed areas; 16% had two, 21% had three and 52% had four or more. Genetic counselling helped 15% of patients decide not to proceed with genetic testing: either because a relative would be more appropriate to test (5%), the patient had a low risk of a BRCA mutation (3%) or for psychological reasons (7%). Psychological support was provided to 15% of patients including the provision of support resources in 12% and referral for counselling in 2% of cases. Genetic counsellors assess the whole family and were therefore able to provide screening recommendations for relatives in 62% of cases and assess risk of other familial conditions in 2% of families. Of importance external referrals were made in 6% of patients.
Genetic counselling provides significant psychosocial and practical benefits in the provision of breast cancer genetics: including advice for the whole family, ensuring genetic testing is appropriate and referral to appropriate external healthcare agencies. 1 NICE Guidance 2 NCCN Guidelines.
Clinical trial identification
Legal entity responsible for the study
Has not received any funding.
V. Kiesel: Shareholder / Stockholder / Stock options: Genehealth UK. G. Wishart: Shareholder / Stockholder / Stock options: Check4Cancer.