Open Genome Project (OGP) Update: December 2021

We thank all the members of the Scientific and Technical Advisory Panel (STAP) and every co-author of the peer-reviewed articles listed below for your instrumental role and valued contributions to successful completion of the OGP. 


Our funders, the Technology Innovation Agency (TIA) of South Africa, approved extension of this project in the form of an implementation study with a strong focus on training. This will be done in line with the genomics framework published in February 2021 as several STAP members contributed to this Policy Paper:  

  • Accelerating Excellence in Science in Africa (AESA). A Framework for the Implementation of Genomic Medicine for Public Health in Africa [version 1; not peer reviewed]. AAS Open Res 2021, 4:9 (


During 2021 we hosted five virtual Oncogenomics Meetings to communicate international research results and some of our findings from studies performed in South Africa partly funded by TIA (2020-2021):

  • Mampunye M, 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 29 September 2021. – PRESENTED BY DR RIKA PIENAAR
  • Myburgh EJ, de Jager JJ, Murray E, Grant KA, Kotze MJ, de Klerk H. The cost impact of unselective vs selective MammaPrint testing in early-stage breast cancer in Southern Africa. Breast 2021; 59: 87-93. ISSN 0960-9776, – PRESENTED BY DR ETTIENNE MYBURGH 
  • Oosthuizen J, Kotze MJ, Van Der Merwe N, Myburgh EJ, Bester P, van der Merwe NC. Globally Rare BRCA2 variants with founder haplotypes in the South African population: Implications for point-of-care testing based on a single-institution BRCA1/2 next-generation sequencing study. Front Oncol 2021; 10:619469. doi: 10.3389/fonc.2020.619469. PMCID: PMC7908826.
  • Baatjes KJ, Peeters AV, McCaul MH, Conradie MM, Apffelstaedt JP, Conradie M, Kotze MJ. CYP19A1 rs10046 pharmacogenetics in postmenopausal breast cancer patients treated with aromatase inhibitors: One-year follow-up. Curr Pharmaceutical Des 2020; 26(46):6007-6012.
  • Glanzmann B, Jooste T, Ghoor S, Gordon R, Mia R, Mao R, Charls P, Douman C, Kotze MJ, Peeters AV, Esser M, Tiemessen CT, Wilkinson RJ, Louw J, Gray G, Warren RM, Möller M, Kinnear C. Human whole genome sequencing in South Africa. Sci Rep 2021; 11: 606. doi: 10.1038/s41598-020-79794-x.PMID: 33436733; PMCID: PMC7803990.
  • 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; 11(170):1-6.
  • Tod B, Schneider JW, Bowcock AM, Visser WI, Kotze MJ. The tumor genetics of acral melanoma – what should a dermatologist know? JAAD Int 2020; 1: 135-147