A review of genetic testing for females referred to genetic counselling for a personal or family history of gynaecological cancer
Date
2023
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
University of the Witwatersrand, Johannesburg
Abstract
Hereditary cancer syndromes, caused by pathogenic variants in specific genes, substantially increase an individual’s risk for cancer and are estimated to cause 10% of all uterine cancers and 20% of all ovarian cancers. However, these data are primarily based on high-income countries and to date there is no published data on the known variants and testing of cancer predisposition genes associated with gynaecological cancers in South Africa. In this study, patient records for those with either a confirmed diagnosis or family history of gynaecological cancer that were seen by the Division of Human Genetics (NHLS/Wits) were retrospectively
analysed (n = 104). Associations between patient characteristics, genetic testing availability and the detection of pathogenic variants as well as the utility of risk assessment tools were investigated using statistical analysis. The majority of patients underwent diagnostic genetic testing (78/104, 75.0%), 25 (32.1%) were positive, 41 (52.6%) were negative, and 12 (15.4%) returned a variant of unknown significance. Test results were significantly different between European and non-European patients (p << 0.05) with non-European patients being 30% less likely to have a pathogenic variant detected (OR 0.7, 95% CI 0 0.22, 2.21). Patients who met genetic testing criteria according to online risk assessments were more likely to have a positive genetic test result than those who did not (p < 0.05). A disparity exists not only in genetic testing availability but also clinic attendance between public and private healthcare which is likely limiting the ability to diagnose hereditary cancer syndromes associated with gynaecological cancers in public healthcare hospitals
Description
A research report (in the format of a “submissible” paper) submitted in partial fulfillment of the requirements for the degree of Master of Science in Medicine (Genetic Counselling) to the Faculty of Health Sciences, School of Pathology, University of the Witwatersrand, Johannesburg, 2023
Keywords
Hereditary cancer syndromes, Pathogenic variants, Gynaecological cancer, hereditary cancers, genetic counselling, Hereditary breast and ovarian cancer (HBOC), UCTD
Citation
Barnard, Sebastian. (2023). A review of genetic testing for females referred to genetic counselling for a personal or family history of gynaecological cancer [Master’s dissertation, University of the Witwatersrand, Johannesburg]. WireDSpace.