Abstract 888
Background
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.
Methods
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.
Results
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.
Conclusions
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
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
V. Kiesel: Shareholder / Stockholder / Stock options: Genehealth UK. G. Wishart: Shareholder / Stockholder / Stock options: Check4Cancer.
Resources from the same session
5694 - Findings from a new specialist remote Counselling Service for Neuroendocrine Neoplasm (NEN) patients and family members
Presenter: Catherine Bouvier
Session: Poster Display session 2
Resources:
Abstract
4725 - Hematologic malignancies in temozolomide-treated metastatic pancreatic neuroendocrine tumors
Presenter: Nicole Balmaceda
Session: Poster Display session 2
Resources:
Abstract
5842 - Efficacy and toxicity of combination chemotherapy with cyclophosphamide, vincristine and an anthracycline in patients with metastatic extrapulmonary neuroendocrine carcinoma
Presenter: Leonidas Apostolidis
Session: Poster Display session 2
Resources:
Abstract
1543 - An Australian multi-centre experience of the use of peptide receptor radionuclide therapy for bronchial carcinoid tumours.
Presenter: Lisi Lim
Session: Poster Display session 2
Resources:
Abstract
4175 - Extra-pulmonary (EP) high grade (HG) neuroendocrine carcinoma (NEC): real-life outcomes of fifty-eight patients from a Portuguese cancer center.
Presenter: Rita Conde
Session: Poster Display session 2
Resources:
Abstract
3274 - Efficacy of immune check-point inhibitors (ICPi) in large cell neuroendocrine tumors of lung (LCNET)
Presenter: Shira Sherman
Session: Poster Display session 2
Resources:
Abstract
3534 - HORMONET: Study of Tamoxifen in Well Differentiated Neuroendocrine Tumors and Hormone Receptor Positive Expression
Presenter: Milton Barros
Session: Poster Display session 2
Resources:
Abstract
2137 - Clinical utility of Metabolic Tumor Volume in Papillary Thyroid Carcinoma
Presenter: Norihiko Takemoto
Session: Poster Display session 2
Resources:
Abstract
3864 - Correlation of thyroglobulin (Tg) oscillations with progression-free survival (PFS) in patients with radioactive iodine-refractory (RAI-R) differentiated thyroid carcinoma (DTC) treated with multikinase inhibitors (MKI).
Presenter: Jorge Hernando Cubero
Session: Poster Display session 2
Resources:
Abstract
2820 - Analytical validation of a thyroid cancer diagnostic method based on the relative quantification of CLDN10, HMGA2 and LAMB3 expression
Presenter: Mateus Barrosfilho
Session: Poster Display session 2
Resources:
Abstract