In 2016, Rehman Medical Institute was one of the first hospitals to invest in a full-blown genomics facility, with the aim of making genomic testing cheaper, and accessible for the people of Pakistan – especially Khyber Pakhtunkhwa.
Recently, RMI achieved the much-awaited milestone of launching the Breast Cancer Gene test for high-risk individuals especially ladies with a family or personal history of breast or ovarian cancer. This of course came after months of design, development, and validation in our world-class laboratory.
What is gene testing?
Gene testing looks for changes (variations or mutations) in our genes. Some changes (variations and mutations) increase our chances of getting certain diseases such as breast cancer and thalassemia. Because DNA is shared between family members, changes in DNA can be passed down from parents to their children and are also shared between family members such as siblings, uncles, aunts, and cousins.
Hence, if a person has a familial mutation in any gene, his or her family members are also likely to carry those mutations and the risk for the associated disease. The risk is obviously higher for the closest relatives.
How does the BRCA1/2 test help the Pakistani population?
Pakistan has a high rate of breast cancer in its population. The BRCA1 and BRCA2 genes is a cancer-inhibiting gene that prevents the development of cancer. A change (mutation) in the BRCA gene can interfere with the cancer-preventing function of the gene. This change can lead to the development of breast cancer.
Patients who develop breast cancer due to a mutation in the BRCA gene can pass the mutation to their family members. Therefore, breast cancer in these families becomes hereditary and affects several family members across multiple generations. The BRCA gene test can identify the presence of such mutations in a family and assess the risk of relatives, especially females, for developing breast cancer in the future. Those with an increased risk can then take measures for more aggressive screening, prevention, and early detection, which can in turn save their lives.
What other tests does the Centre for Genomic Sciences plan to release?
The BRCA1/2 gene test is just the beginning. The goal of the Centre for Genomic Sciences is to make genetic testing for our most common diseases widely available for the people of Pakistan. Initially, we aim to target genetic diseases with a high prevalence in the Pakistani population such as thalassemia and breast cancer. By making genetic testing widely available, we aim to decrease the disease burden on the Pakistani population.
We plan to introduce prenatal testing for hereditary diseases such as Thalassemia, Duchenne Muscular Dystrophy, and Spinal Muscular Atrophy during pregnancy for parents to know the risk of such diseases in their children and hence help them make an informed decision.
What is the long-term goal of the Centre for Genomic Sciences?
Genetic information about diseases helps us understand them better. Since genomic testing is not widely available in Pakistan, we lack crucial information to understand a disease deeply and rely on information from other studies.
The long-term goal of this Centre is to understand diseases in the Pakistani population from where they start – their genes and the mutations they carry. This information will help scientists, doctors, and pharmacists tailor both tests and treatments according to our specific genetic profiles. This is critical for improving drug response and for minimising side effects that come with the use of medicine.
As we gain insight into diseases in our community, we are also able to come up with better solutions to treat them. Mass education regarding the role of genomics in our well-being is also much needed and will help our people become more proactive about their well-being and make informed decisions about their health.
