Pioneering BRCA1/2 point-of-care testing for Integration of germline and tumor genetics in breast cancer risk management
At the award ceremony of the Gauteng Accelerator Programme Innovation Competition on 24 February 2022 in Pretoria, intern medical scientist Lwando Mampunye was selected as one of the top three performers in the the Biosciences category. This unique programme assists scientist entrepreneurs to pursue commercially viable opportunities from their postgraduate studies, as in the case of Lwando. He was supervised by Dr Kathleen grant of the Cape Peninsula University of Technology and Prof Maritha Kotze of Stellenbosch University during his masters degree, and completed the HPCSA internship program at the National Health Laboratory Service and University of Cape Town, in June 2023.
All the Innovation Hub winners have access to seed funds to start their own companies, which resulted in the founding LM Point of Care (Pty) Ltd. by Lwando. The next step will be to conduct a pilot implementation program in collaboration with participating laboratories, medical schemes, clinicians and genetic counsellors. This is supported by his participation an an exhibitor rather than a scientist at the 2023 BIGOSA Breast Cancer Conference. At this event we introduced a new mobile phone app for obtaining online informed consent and collection of clinical information to combine with genotype data rapidly generated on a portable DNA testing instrument. Training of healthcare practitioners will be essential to ensure optimal incorporation of these novel technologies into the MammaPrint care pathway as shown in the poster below.
Poster presented at the Worldlab Medlab International congress in Rome, Italy in May 2023
Mampunye L, Grant KA, Peeters AV, Torrorey-Sawe R, French DJ, Moremi KE, Kidd M, van Eeden PC, Pienaar FM, van der Merwe NC, Kotze MJ. Mammaprint Risk Score Distribution in South African Breast Cancer Patients With the Pathogenic BRCA2 C.7934delg Founder Variant: Towards Application of Genomic Medicine at the Point-of-Care. Abstract Presented at 17th St. Gallen International Breast Cancer Conference, 17-21 March 2021. Breast 2021; 56(1):S17–90. doi: 10.1016/S0960-9776(21)00120-X. Read more..
Kotze MJ, van der Merwe N, Mampunye L, Grant KA, Peeters AV, French DJ. A Rapid Point-of-Care Test for Detection of Pathogenic BRCA1/2 Founder Variants: Pharmacogenetic Evaluation of South African Breast Cancer Patients Selected by Tumour Molecular Subtype. Rapid Fire Presentation at BRCA 2021: A Vision of the Future. Abstract presented at the 8th International Symposium on Hereditary Breast and Ovarian Cancer, Montréal, Canada, 4-7 May 2021. Familial Cancer 2021; Abstract P095. doi: 10.1007/s10689-021-00273-x. Read more..
Mampunye L, van der Merwe NC, Grant KA, Peeters AV, Torrorey-Sawe R, French DJ, Moremi KE, Kidd M, van Eeden PC, Pienaar FM, Kotze MJ. Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics. Frontiers in Oncology 2021 Sep 29;11:619817. doi: 10.3389/fonc.2021.619817. PMID: 34660253; PMCID: PMC8513538. Read more..