Dr René Goliath, a local medical biological scientist and genetic counsellor, wants to empower women to determine their risk of breast cancer and ovarian cancer.
To achieve this, Dr Goliath has turned to technology to digitally transform the process of collecting patient history.
A pioneer researcher from the University of Cape Town (UCT), where she headed up the molecular genetics diagnostics laboratory in the Department of Human Genetics at UCT Medical School, Dr Goliath is known in academia for discovering a novel gene locus for Retinitis Pigmentosa, a retinal disorder which causes blindness.
Now, the medical practitioner has developed an online portal where patients can make appointments for a genetic counselling session.
“The new service and capability, which is just being launched, is the ability for clients to complete an online cancer risk questionnaire,” Dr Goliath tells ITWeb via e-mail.
The assessment of the questionnaire by a genetic counsellor (Dr Goliath and associate genetic counsellors) and the furnishing of a report that details the patient’s cancer risk profile costs R75.
Dr Goliath notes breast cancer is the most common form of cancer affecting women.
According to the World Health Organisation, she says, the number of new cases of breast cancer in 2018 exceeded two million, accounting for 11.6% of all new cases of cancer in both men and women.
“Five to 10% of all breast cancer patients are genetically predisposed to cancers. Studies on hereditary breast and ovarian cancer involve not only determining the predisposition to developing cancer, but also considering the current treatment for breast cancer, prevention of next cancer, risk diagnosis and adoption of protective measures for relatives.
“Families with a history of multiple breast or ovarian cancers approximately account for 15% of all patients with breast cancer.”
Describing how the portal works, Dr Goliath says it is an automated process. “The user goes to the portal and completes the questionnaire. It is a very detailed data collection process where information about a person’s personal and family history (grandparents, parents, siblings, maternal and paternal history, menstrual history and medical history) is collected.
“The questionnaire is submitted automatically on the portal and processed using various modelling tools to produce a cancer risk score. A report is then provided to the individual.”
She adds that the individual can subsequently (optionally) make an appointment for a genetic counselling session, which is a detailed and intimate process of counselling and giving direction based on the outcome of the electronic assessment.
Dr Goliath points out that the collection of patient information is usually done in a face-to-face setting between the patient and a genetics health professional, or patients fill out a paper-based questionnaire.
“In the case of genetic disorders or genetic-based cancers, a doctor (oncologist) usually refers patients to a genetic counsellor or professional and the genetic professional also takes a detailed patient history profile manually. So this portal is an innovative move away from manual data collection.
“It gives patients the opportunity to reflect and complete their own profiles online – in the comfort of their own homes, on a PC or mobile device.”
She believes this is a breakthrough solution in patient management, as it empowers people to get easy access to the process of assessing their risk profiles.
“It is very highly complementary to the overall patient care process and highly proactive in its nature to determine the individual’s risk of developing cancer before it may manifest – not only for the patient but also for the patient’s family members where hereditary factors are involved.”
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