Pioneering Point of Care Genomics in Africa
Dr Rispah Torrorey-Sawe is an immunologist who is on a mission to find out why so many people are dying of treatable cancers in Kenya. At the start of her PhD study, “she carried tissue samples on a flight to the US to get them tested for gene mutations so that patients at Moi Teaching and Referral Hospital could get the best treatment”. Read the full article here.
Rispah needed a good storage solution for her DNA samples, and this gave birth to the collaboration between Moi University and Stellenbosch University. Through this collaboration new skills and knowledge can be transferred into Africa through Point of Care technology.
Research: Breast Cancer Genetics
Oragene® saliva collection kit enables breast cancer research in Kenya with patient-friendly procedure and long-term storage at ambient temperature.
Breast cancer is now the primary cause of cancer-related mortality in women worldwide and is associated with multiple co-morbidities.
Rispah and her collaborators in South Africa are focused on the identification of molecular subtypes of breast cancer that are different in terms of their presentation, prognosis and treatment response. Together, their goal is to identify high-penetrance mutations in the BRCA1 and BRCA2 genes as well as potential gene-environment interactions on which to base preventative diagnostics and optimize treatment plans in Kenyan patients.
Voluntary informed consent is a necessary prerequisite for the ethical conduct of genetic research and therefore approval from the Institutional Review and Ethics Committee for Human Research at the Teaching and Referral Hospital of Moi University was obtained for DNA collection. The process used to obtain consent from patients includes explaining the purpose of sampling and is often time-consuming and difficult for patients to understand. As blood collection is an invasive and sometimes painful procedure, obtaining consent for research use renders compliance among potential study participants even lower. Furthermore, the infrastructure required to store and protect biological samples from degradation was initially lacking at the University of Moi. Due to a lack of availability of cold storage facilities, blood samples could not be used for the initial genetic study. Use of swabs was also not an option due to bacterial growth after being stored for a few days at room temperature. The Oragene saliva collection kit was chosen as the sample method as it offers a non-invasive technique for obtaining a DNA sample and provides an all-in-one solution for long-term storage at room temperature.
Results of the first article was published in Frontiers in Genetics: 2020;6;11:170. doi: 10.3389/fgene.2020.00170
Saliva samples were obtained for an initial set of Kenyan breast cancer patients attending an outpatient clinic or being admitted for surgery. The non-invasive, fast and simple collection method inherent to the Oragene saliva kits facilitated informed consent and increased patient participation. The saliva samples were stored at room temperature in Rispah’s office in Kenya for several years before she could extract the DNA in South Africa as a postdoctoral fellow at Stellenbosch University, under supervision of Professor Maritha Kotze.
Rispah’s new data-driven company was founded on the strong scientific basis laid firstly by her contributed to the Ethics & Data Governance section 6 included in the Policy Paper for Accelerating Excellence in Science in Africa (AESA): A Framework for the Implementation of Genomic Medicine for Public Health in Africa. AAS Open Res 2021, 4:9. https://doi.org/10.21955/aasopenres.1115149.1.
Peer-reviewed publications paved the the way to ImmunoGknowmix: Personalised Medicine Integrating Service and Research (PM-ISR)
- Nembaware V, Johnston K, Diallo AA, Kotze MJ, Matimba A, Moodley K, Tangwa GB, Torrorey-Sawe R, Tiffin N. A framework for tiered informed consent for health genomic research in Africa. Nat Genet. 2019;51:1566–1571. doi.org/10.1038/s41588-019-0520-x
- Torrorey-Sawe R, van der Merwe N, Mining SK, Kotze MJ. Pioneering informed consent for return of research results to breast cancer patients facing barriers to implementation of genomic medicine: The Kenyan BRCA1/2 testing experience using whole exome sequencing. Front Genet. 2020;6;11:170. doi: 10.3389/fgene.2020.00170
- 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. Front Oncol. 2021;11:619817. doi: 10.3389/fonc.2021.619817.
- Okunola AO, Baatjes KJ, Zemlin AE, Torrorey-Sawe R, Conradie M, Kidd M, Erasmus RT, van der Merwe NC, Kotze MJ. Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: Family counselling, lifestyle adjustments and change of medication. Expert Rev Mol Diagn. 2023;23(5):431-443. doi: 10.1080/14737159.2023.2203815.