Genetic testing is a targeted tool, used when certain patterns suggest an increased inherited risk of breast cancer. Most breast cancers are not inherited. Only about 5–10% are linked to inherited gene changes. This distinction is important, because it helps avoid unnecessary testing while ensuring that those who may benefit from it are appropriately identified.
What Genetic Testing Means
Genetic testing looks for inherited changes in specific genes that can increase the likelihood of developing breast cancer. Certain genes such as BRCA1 and BRCA2 are commonly tested, along with a panel of other related genes depending on the clinical context. Carriers of BRCA1 or BRCA 2 mutations carry a 45% – 85% lifetime risk of developing breast cancer by age 70.
Who Should Consider Genetic Testing
Genetic testing is usually considered when certain patterns are seen. These include a strong family history of breast or related cancers (ovarian/ prostate/ pancreatic), occurring at a younger age, multiple cancers within the same individual or family, or a known genetic mutation in the family. In such situations, testing is recommended selectively, after careful clinical evaluation.
How Genetic Testing Is Done
The test itself is simple. It is usually performed using a blood or saliva sample, which is then analyzed in a specialized laboratory. The test results become available in 2-3 weeks’ time, based on the kind of genetic panel being tested. The results are interpreted in the context of personal and family history to guide further decisions.
How Genetic Testing Helps
The results of genetic testing can influence how screening is planned. For individuals at higher risk, screening may begin as early as at age 25-30 and involve imaging modalities such as annual MRI scan, in addition to mammography-based screening. Genetic testing can also provide important information for family members, who may benefit from evaluation if a mutation is identified.
In some cases, preventive strategies may also be discussed to reduce future risk, which may include closer surveillance, preventive medications, or, in selected cases, risk-reducing surgery. One widely known example is actor Angelina Jolie, who chose preventive surgery after being found to be a carrier of BRCA 1 mutation which significantly increased her lifetime risk of breast and ovarian cancer. While such decisions are not common for everyone, they illustrate how genetic testing can influence personalized risk management.
Availability and Access
Genetic testing is increasingly available through specialized laboratories and cancer centers. Laboratories which perform genetic testing generally have the provision to collect samples directly from the person’s home. They may also have a genetic counsellor on board for consultation about the test result. Cost of genetic testing for cancers usually ranges from Rs 8000-50,000 based on complexity of the tests
A Measured Approach
Genetic testing is not required for everyone. Its value lies in using it for the right individuals, based on clinical judgment and risk patterns. When used appropriately, it helps ensure that screening and prevention strategies are aligned with an individual’s level of risk, allowing for more precise and informed care.
