Genetic testing for inherited cancers in patients within the private healthcare sector of South

Abstract

Introduction: Inherited cancer syndromes are responsible for approximately 13.5% of all cancers. They are caused by germline mutations in cancer susceptibility genes which are passed down from generation to generation. The development and application of Next Generation Sequencing technologies, such as gene panels, has increased the accuracy, efficacy and affordability of identifying patients who have, or are at increased risk of, hereditary cancer syndromes. These individuals have the opportunity to pursue tailored treatment strategies as well as surveillance and risk-reducing surgeries in order to reduce cancer-related morbidity and mortality. Despite the benefits of knowing one’s genetic status, medical aid schemes in South Africa do not reimburse patients for international genetic testing which is more broad, affordable and has a quicker turn-around time.

Aims: The aim of this study was to provide insight into the utilization of genetic counselling and the uptake of genetic testing through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg.

Methods: A total of 290 files of patients who attended a genetic counselling session for a personal and/or family history of cancer during the study period were assessed.

Results and Discussion: The mean (standard deviation) age of the patients was 47  14.4 years and 54.1% (157/290) were from a high-risk population group with Ashkenazi Jewish and/or Afrikaner ancestry. A total of 46.2% (134/290) had both a personal and family history of cancer. The uptake of genetic testing was 71.0% (206/290) and patients with and without a family history of cancer were just as likely to pursue genetic testing (p=0.195). A total of 37.4% of tests were conducted overseas and most medical aids do not pay for international testing. International genetic testing is more cost effective and has a faster turn-around time, thereby affording individuals the opportunity to early interventions to reduce cancer incidence. Gene mutations in cancer susceptibility genes were found in 24.3% (50/206) of these individuals.

Conclusion: This study showed that the identification of gene mutations causative of an inherited cancer syndrome over a six-year period has allowed 24.3% of individuals the opportunity to pursue increased surveillance and risk-reducing management that could decrease the cancer burden in themselves and their families. These findings highlight the necessity for medical aids to expand their coverage to include international genetic testing as the implementation of cancer screening and risk reducing measures would be a more cost effective approach than the long term management and treatment of a cancer diagnosis.