Page 156 - SAMRC Annual Report 2024-2025

Precision and Genomic
Medicine Research Unit

Unit director:
Prof. Raj Ramesar
Raj.Ramesar@uct.ac.za

Advancing Research Priorities: and managing CRCs to improve the ascertainment

Strategic Objectives and Impact of all familial CRCs, since they can be managed
successfully in families, to reduce morbidity and
The Precision and Genomic Medicine Research mortality.
Unit’s emphasis has primarily focused on creating
evidence that identify hereditary forms of disease, Additionally, the identification of genetic signatures
and their pre-symptomatic management, improves in circulating blood (liquid biopsy) of presymptomatic
the lives of those at highest risk. disease-causing mutation carriers, promises to
replace highly invasive and expensive endoscopic
In this regard, the project that leads are the 'genomics
of familial colorectal cancers' project, which aims surveillance modalities.
to improve the ascertainment of patients with a The establishment of a national South African National
familial form of the colorectal cancer (as common Cancer Prevention Services (SANCAPS) collaborative
as 1/300 individuals), from a background of sporadic that involves a wide range of specialists who are
colorectal cancers. The use of predictive genetic involved in the diagnosis and management of familial
testing and clinical surveillance has proven to be colorectal cancers (including The National Cancer
highly effective in the reduction of morbidity and Registry within the NHLS, Oncologists, Anatomical
mortality, with associated socio-economic benefits.
Pathologists, Surgeons, Gastroenterologists,
Of particular significance, in maintaining a strong Family Physicians and Geneticists) with a vision of
research programme attached to our community work ascertaining all likely familial CRCs and managing
amongst rural populations, is the recognition that at-risk families preventatively. Importantly, this is
adherence to invasive endoscopic (i.e. colonoscopic a forerunner or will serve to set a template for a
and gynae) screening is counterproductive. Current Register and management protocols for all familial
research has been based on improving this screening cancers (including breast/ovarian, amongst others)
by investigating liquid biopsy (i.e. circulating blood) attached to the National Cancer Register, but with
for genetic signatures as markers of neoplasia in active engagement with the Provincial Departments
those at highest risk. Current indicators are very of Health to ensure sustainability. Of particular
promising and have the potential of non-invasive importance, this is leading to bright young clinicians
surveillance, as well as remarkably reduced cost of (a Surgeon and an Anatomical Pathologist) at e.g.
such surveillance. Inkosi Chief Albert Luthuli Hospital/UKZN to register
for PhDs on the genomics of colorectal cancers
Key Milestones and Achievements since they have seen the translatability of this work
Development of an AI-based app that is used by towards reducing morbidity and mortality amongst
all in the team who are involved with diagnosing their patients.

154 SAMRC ANNUAL REPOR T 2024-25