Dr van der Merwe is a Medical scientist and HPCSA-registered Genetic counsellor with a history of
working in both the academic and private sectors. She currently provides research and clinical
consultation to Gknowmix and Cape Peninsula University of Technology. She obtained a PhD degree
(Pathology) from Stellenbosch University in 2016, under the supervision of Professor Maritha Kotze
who founded Gknowmix’s pathology-supported genetic testing platform. Her PhD involved the study
of cancer and associated non-communicable diseases, with a focus on the three main areas of risk
including disease diagnosis, recurrence risk reduction and prevention of medication side
effects/therapeutic failure. She furthermore obtained a clinical MSc (Med) Genetic Counselling degree
(University of Cape Town) with published research on the return of individual genetic results and
incidental findings obtained with whole exome sequencing. She is passionate about reducing the South
African cancer burden through translatable research, fostering research innovation and improving
medical/genetic literacy and patient access to genetic services for ethical implementation of
personalised medicine.
The Open Genome Project that was initiated in November 2018 and completed in December 2023, aimed to gather various patient data to generate adaptable
patient genomic reports, presented as individual case studies. By integrating information from various fields including clinical, genetic, pathology-based,
environmental and lifestyle data, it furthermore aimed to deliver patient-centered care within a robust framework for personalized health interventions.
Collaborative knowledge-sharing improved processes from patient sample collection to result delivery and upheld ethical values, benefiting participants,
researchers, and funders. Three innovations developed under the pathology-supported genetic testing platform to foster diverse perspectives as part of the OGP
include a mobile application and wellness survey for risk assessment using the first level data processing algorithm; rapid point-of-care testing combined with
pathology data to guide patients to the right care pathway using the second level algorithm; and next-generation sequencing for detailed patient reports using the
third level algorithm.
A highlight of this oncogenomics meeting was a question posed by Dr Linda Jones, a local surgeon, about patients and their families who were previously
diagnosed with cancer but did not undergo genetic testing due to historical funding and follow-up issues. She emphasized the urgency of reinvestigating these
high-risk individuals. Mr Jaco Oosthuizen (medical scientist) acknowledged the challenges in following up with families in the public sector, citing a number of
limitations including the availability of resources and that of variant interpretation capabilities. The discussion also covered the importance of securing research
funding to support genetic counsellors who are trained to follow up patients and families. The potential use of pre-screen reports to engage patients by providing
personalized clinical profiles and raising awareness about the importance of genetic testing, was furthermore highlighted during these discussions. This tool can
help start the conversation with patients about their genetic risks and the benefits of further testing.
The conversation at the end of the talk furthermore emphasized the need for collaboration among healthcare providers, researchers and genetic counsellors to
follow a comprehensive approach to cancer prevention and patient follow-up. The meeting concluded with a plan to continue discussions and develop actionable
strategies, including application for new research funds and implementing point-of-care testing to increase access to genetic services. The participants expressed
interest in ongoing collaboration and support for initiatives that will enhance the follow-up process and improve patient outcomes, highlighting the need for a
structured program that overcomes the limitations of isolated projects. This led to the conceptualisation of an Open Genome Programme to be further planned
during the coming months. The meeting ended with an invitation to the next talk, PART II – taking place on 3 June 2024, for further multidisciplinary engagement
and continued communication and planning to achieve these goals.