GENETIC COUNSELING FOR A PATIENT WITH A BRCA1 MUTATION-ASSOCIATED BREAST CANCER: A CASE STUDY
Loredana PECA1,*, Florina POP2, Raluca-Ioana FARCAȘ3
1 Ingenuity Systems, Qiagen, Cluj-Napoca, Romania
2 „Prof. Dr. Ion Chiricuţă” Oncology Institute, Cluj-Napoca, Romania
3 Romanian Cancer Society, Cluj-Napoca, Romania
Genetic counseling implies a myriad of ethical and psychosocial issues. The article uses a qualitative approach of a descriptive single-case study design. The aim of the study is to offer a glimpse of what a late post-test genetic counseling session for hereditary breast and ovarian cancer involves in a country with no genetic services integrated in the oncology care system and no legal and/or ethical framework for genetic testing and counseling. We report the case of a patient with a family history of breast cancer diagnosed with triple negative breast cancer at 30 years of age, while being pregnant. After pregnancy termination, she tested positive for a BRCA1 gene pathogenic mutation. Testing and result disclosure were performed with no pre-test and post-test genetic counseling. This is an illustrative case study of what a post-test genetic counseling session for hereditary breast and ovarian cancer involves.
KEYWORDS: genetic testing, genetic counseling, hereditary breast and ovarian cancer, Romania, BRCA1/2
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