Transforming Diagnostics and Personalized Medicine Amidst Challenges

Genomic testing, an advanced diagnostic tool, delves deep into the analysis of DNA, RNA, and proteomics to uncover genetic mutations, assess disease risks, and provide critical insights for medical decisions.

- CORRESPONDENT NEW DELHI

The field has seen transformative progress with the advent of technologies like next-generation sequencing, enabling the early detection of diseases, particularly cancers.

This cutting-edge approach has significantly enhanced diagnostic precision, making it a cornerstone in personalized medicine. However, challenges persist. Restricted insurance coverage, high costs, and the complexity of interpreting vast genomic data continue to hinder its widespread adoption.

These obstacles underscore the need for robust frameworks to ensure accessibility and affordability.

To shed light on this evolving field and its implications for healthcare, we turn to Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare Limited.

Q: What is genomic testing, and how does it differ from traditional diagnostic tests?

A: In 2003, the Human Genome Project that mapped an understanding of all human genes was completed and changed the entire testing scope impacting every clinical segment. Although genetic testing started way back in 1950 when Down (trisomy 21) and other syndromes were diagnosed by cytogenetic methods & evolved further in 1990s when the novel technique of PCR accelerated molecular genetic testing by enabling targeted testing for known pathogenic variants, it accelerated only when Next Generation Sequencing & other newer technologies added to the understanding of the human genome and its impact on disease.

Testing has now evolved from comprehensive gene panels to exome and genome sequencing as routine tests, thereby revolutionizing the diagnosis of rare genetic diseases among others.

As compared to traditional lab tests, genomic tests that study DNA, RNA, proteomics can identify mutations in our genes indicating if we have or not a genetic condition while also identifying our risk for developing a certain condition or passing on a genetic disorder to the next generation.