In a breakthrough that is hoped will reduce time, money and save lives, a Free State medical scientist in genetics and a PhD candidate have, in a collaborative project with a research group from Stellenbosch University, devised new cost-effective genetic testing for breast and ovarian cancer.
Once operational, women with these types of cancers in their families can be quickly, easily and cheaply screened to identify risks early.
TimesLIVE reports that the development is thanks to researcher Dr Nerina van der Merwe, principal scientist within the University of the Free State’s division of human genetics and the National Health Laboratory Service, and colleague Jaco Oosthuizen, who have been working with Professor Maritha Kotze’s research group in Stellenbosch.
Through a new technology based on rapid point-of-care (POC) testing, they have implemented a new diagnostic test for familial breast and ovarian cancer that “will reach more communities and hopefully contribute to saving more lives”.
Van der Merwe said they were first approached by Kotze. “Prof Kotze and her team, in collaboration with a UK company, have been working on designing a POC assay for this technology, based on our research results,” she said.
Her unit is the state referral centre for familial breast and ovarian cancer in the country, where they have screened more than 3 000 patients diagnostically.
“With our research results and access to positive controls, we are able to assist with the validation and potential implementation of this technology in the future,” she said, pleased with the development that comes after nearly 30 years of SA-specific genetic research on familial breast and ovarian cancer.
Van der Merwe said the new technology, after validation as a diagnostic genetic test, is the future of familial breast and ovarian cancer testing in SA, when performed with genetic counselling.
It is a user-friendly, practical method, she added, very suitable for use in rural clinics, eliminating the need for expensive laboratory equipment.
Van der Merwe was appointed to determine the range and contribution of genetic changes in the two BRCA genes. Her work, in collaboration with Professor Lizette van Rensburg from the University of Pretoria, identified the first SA-specific variants, which proved to represent SA-unique recurrent, or founder variants found in African and Afrikaner populations.
As her research grew, the number of founder variants grew to six – the number she says is “ideal for the implementation of rapid POC testing, as these variants are common in affected patients and justify being screened first, before moving to more expensive diagnostic testing”.
She is particularly excited about the progress in her field because it will not only benefit patients but also their at-risk relatives.
The test, through saliva taken via an inner cheek or buccal swab, is less invasive than a blood test. Results are available in 90 minutes.
“Through genetic counselling, while the test is running, patients and their family can ask questions about genetic testing and cancer, simultaneously increasing community awareness. By face-to-face consultation, the counsellor can ensure the patient and their relatives understand the test’s value,” Van de Merwe said. The aim was to eventually increase the low uptake of genetic testing in related at-risk relatives, as this cancer type is inherited.
Most patients who test for cancer are already affected.
“However, we need to screen relatives to identify who is at an increased risk, but this is not happening. So, this will change if we take the test to the patients, because members of their family often accompany them to the clinics. This gives us a chance to inform them, as we have noticed that patients seldom discuss their diagnosis and test results with relatives, who are also at risk of inheriting the disease.”
Van der Merwe and her team have since broadened their founder testing regime from screening for BRCA1 and BRCA2 only, to multi-gene panel testing using next-generation-sequencing to include other genes causing these two and other specific cancer types.
Their work has been welcomed by the Cancer Alliance, a collective group of 29 cancer-control NGOs and advocates.
“This is good news – the ultimate question is the cost, mainly for the public sector, as this is where most women access health services. For this type of test to be included as standard care for the early diagnosis of women with breast and ovarian cancer, affordability will play a major role,” said the alliance’s CEO, Salomé Meyer.
“This is also where appropriate health technology assessment could help determine the long-term savings of genetic testing where applicable against the actual treatment costs and the overall economic benefits.
“Any effort to save lives will have a meaningful impact. We can only hope this work will be presented to the appropriate decision-makers who influence policy at the national Health Department, as well as the medical schemes,” she said.
TimesLIVE article – Major breakthrough in breast and ovarian cancer screening (Open access)
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