The benefits of genetic testing

Breast cancer has now become the world's most prevalent form of cancer with approximately 2.3 million women diagnosed in 2020 (Source: WHO). In India, it accounts for about 14 percent of all cancers in women. These numbers, and the associated mortality sheds light on the importance of early breast cancer screening in women.

The American Society of Breast Surgeons recommends that genetic testing be made available to all patients with breast cancer as it can unravel a lot of useful insights which can improve the chances of preventing and treating at-risk individuals. In some cases, breast cancers cluster in families known as hereditary cancers.

Who is at a risk of developing breast cancer?

Usually, certain risk factors such as age-usually above 40,and familial history of breast cancer do increase the probability of developing the condition. According to studies, 5 percent - 10 percent of all diagnosed breast cancer cases are genetically inherited from family. The proportion of risk varies based on factors such as the closeness of the relationship, and the number of relatives who have been diagnosed with breast cancer.

Hereditary breast cancer can be caused by mutations in multiple genes, such as BRCA1, BRCA2, ATM, PTEN, and p53, according to the latest scientific advancements. Women who have an inherent, genetic susceptibility to breast cancer require comprehensive counselling, which has led to the development of a diagnostics sector that employs a multi-disciplinary, specialist approach.

What are the benefits of genetic testing?

Genetic testing is a foolproof method to assess the risk of breast cancer. Detecting a genetic change or mutation means that the close family members (children, siblings, parents) could have a risk as high as 50 percent. Hence, they can get tested too to identify the genetic change and go for more regular screenings to detect and act early. Early detection, thus, improves the timely access to available treatment options and survival rate of patients as well as ensure a better quality of life. In fact, if patients know that they are genetically inclined towards developing breast cancer, they can take preventive drugs or undergo preventive surgery.

LifeCell's BreastScreen Test is a comprehensively designed screening panel that tests for all relevant gene variants most commonly associated with hereditary breast-ovarian cancer, and also provides support from board-certified genetic counsellors to help understand results, and the next steps.

What are the steps that can be taken post the discovery of an abnormal gene linked to breast cancer?

Include surveillance protocols here

Genetic Testing provides a leading edge in assessing the risk especially when there is familial history involved. The risk assessment helps you to be proactive so you can consider options with your doctor including surgery, medicines that can prevent cancer from developing (chemoprevention), or more frequent screenings in future.

(The writer is a Consultant Medical Genetics - Indraprasth Apollo Hospital, New Delhi)