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Breast Cancer Awareness Month 2024: Know The Role Of Genomic Testing In Personalised Treatment

In cancer treatment, precision medicine uses specific information about a patient’s tumor to help make a diagnosis, plan treatment, monitor treatment efficacy, or predict outcomes.

(By Dr. Kunjal Lila, Head of Department and Consultant in Surgical Pathology, Metropolis Healthcare Ltd.)

Today, the demand for personalisation spans from clothing and interiors to food and gifts. Medicine has joined this trend with precision, or personalised, medicine — an emerging field that tailors disease prevention, diagnosis, and treatment based on individual characteristics such as genes, proteins, environment, and lifestyle.

In cancer treatment, precision medicine uses specific information about a patient’s tumor to help make a diagnosis, plan treatment, monitor treatment efficacy, or predict outcomes. It can also assess a person's risk of developing certain types of cancer. This marks a shift from the traditional 'one-size-fits-all' approach, where disease treatment strategies were developed for the average patient without regard for individual differences.

ALSO READ: Breast Cancer: Early Detection Is Key, Know Symptoms That Tell It's Time For A Screening

Precision Medicine And Breast Cancer:

Precision medicine has been particularly transformative in breast cancer. For years, standard breast cancer reports have included hormone receptor markers, such as Estrogen Receptor (ER), Progesterone Receptor (PgR), and Human Epidermal Growth Receptor 2 (HER2), which guide treatment planning. Today, genomic profiling is taking breast cancer precision to a higher level.

The Role Of Genomic Profiling In Disease Management:

Genomic profiling is like creating a 'Kundali' or profile for a tumor. It identifies genes responsible for tumor growth, helping physicians find the most effective targeted treatments. For instance, HER2 inhibitors are designed to treat HER2-positive tumors. Genomic tests also help determine the likelihood of cancer recurrence post-treatment. A low-risk genomic profile may allow a patient to avoid chemotherapy, while a high-risk profile indicates that additional therapies are necessary.

Transforming Breast Cancer Genomics:

The discovery of BRCA1 and BRCA2 gene associations with breast cancer has radically changed genetic understanding and management for high-risk women. This discovery has enabled early screening and detection in family members, catching potential cancers at an early and treatable stage.

Next-Generation Sequencing (NGS):

With Next-Generation Sequencing (NGS), vast numbers of genes—or even the entire genome—can now be analyzed quickly. This technology has raised expectations for precision-medicine therapies in breast cancer, providing deeper insights into tumor characteristics and genetics.

Enhancing Breast Cancer Treatment:

Various genomic biomarkers are now available for clinical use, complementing traditional pathology to provide optimal treatment plans. This enhanced understanding of tumor biology allows for more accurate detection and treatment and may ultimately aid in cancer prevention.

Accessibility And Cost Of Personalised Treatments:

While cancer genomics continues to evolve, the challenge lies in making these personalized treatments more affordable. Over the next decade, the oncology field aims to develop novel, cost-effective technologies to deliver personalized medicine more widely.

Genomic profiling in breast cancer offers possibilities like novel targeted therapies and more accurate drug response predictions, sparing patients from unnecessary treatments. Identifying high-risk individuals for preventive interventions is a cornerstone of cancer genomics. As traditional and genomic approaches converge, the landscape of breast cancer treatment and prevention will undergo a remarkable transformation

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]

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