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All you need to know about preventive genomics
If the polygenic risk score is high, the chances of the female developing breast cancer at some point in their lifetime are also high.
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Did you know that in India, every four minutes, a woman is diagnosed with breast cancer? In fact, breast cancer is the most common type of cancer among women in the country. While the exact cause of the disease remains unknown, several risk factors can increase the likelihood of developing it. In approximately 10 per cent of cases, normal breast cells may become cancerous due to abnormal genes inherited from one's parents.
An important aspect of breast cancer prevention and recovery is early detection. The online session ‘Decoding Breast Cancer Risk with Lord’s Mark’, presented by Lord’s Mark Microbiotech Pvt Ltd in association with Hindustan Times, focused on raising awareness about breast cancer. It explored how preventive genomics can empower women with valuable insights into their genetic risk factors for the disease.
Identifying the risk early
Traditional breast cancer screening methods, such as self-examination or examination by a gynaecologist or even a mammogram, often detect the disease at later stages. This could limit treatment options and impact survival rates because the cancer is detected after it reaches the tissue level.
“When the disease has spread in the tissues, there is no option but to go for aggressive treatment, like a mastectomy followed by chemotherapy or radiotherapy. This is not only a financial burden but also an emotional burden on the female. The prognosis, or the survival rate in case of breast cancer, is still 50 per cent in the country because there are chances that the cancer would have metastasised into other organs,” said Subodh Gupta, Chief Executive Officer, Lord’s Mark Microbiotech Pvt Ltd.
The role of genetics
With the help of tools such as the polygenic risk score, women can take control of their health, identifying risks early and implementing strategies to reduce them before they develop into something more serious. Towards this, preventive genomics is reshaping breast cancer awareness and enabling a shift from reactive treatments to proactive treatment.
“With preventive genomics, we can identify the risk of breast cancer at a very early stage.
If a female is identified with a high risk of breast cancer, they can go for very aggressive early interventions so that the survival rate goes up. If at all it has to happen, then the chances of metastasis and other complications are reduced to a great extent. Preventive genomics helps to identify the risk factors at a much earlier stage,” Gupta further said.
Knowing the risk early does not guarantee the prevention of cancer. After a preventive genomic test, if a female is identified as high risk for breast cancer, there is still an 80 per cent chance that she will develop breast cancer at some point of time in life. However, awareness of this high-risk status allows patients to act proactively, starting aggressive investigations without waiting for physical symptoms to appear. This approach explains why several prominent public figures have opted for preventive mastectomies to reduce the likelihood of cancer developing and spreading later in life.
What is your polygenic risk score?
Although breast cancer is more prevalent in women over the age of 50, it is possible to assess your risk as early as 20 to 25 years of age through a polygenic risk evaluation. This simple, saliva-based test extracts and analyses DNA to determine an individual's genetic predisposition to breast cancer.
“The polygenic risk score essentially tracks any changes in the sequence of nucleotides, which our DNA is made of. There are more than 11 genes that are linked to the issue of breast cancer. A polygenic risk score is a total of all these SNP variations. In a healthy female, single nucleotides are arranged in a particular fashion, and in the females who are prone to have breast cancer, this particular sequence would have changed, which leads to a higher risk of breast cancer. The total of all these changes leads to a polygenic risk score,” he said.
Taking charge
If the polygenic risk score is high, the chances of the female developing breast cancer at some point in their lifetime are also high. After the knowledge that the risk is high, females can make changes to their lifestyle or even go for interventions such as a preventive mastectomy.
What happens if you go for the test and come out as high-risk in the report? “Our intention is not to create anxiety. We have a team of trained, board-certified genetic counsellors who walk the patient through their genetic profiling report. If at all a patient is identified as high risk for a certain kind of a condition or a disease, our genetic counsellors also help them understand why it is high risk for them, what lifestyle changes they should bring about to delay the disease, and what are the other investigative tests which they should go for. The idea that if at all any condition has developed, it should be identified at a very early stage,” he said.
Watch the full webinar here. https://www.youtube.com/live/SczpiOZD5Y8
