Testing Times

“If we didn’t have genetic mutations, we wouldn’t have us. You need error to open the door to the adjacent possible.” – Steven Johns

In the year 2017, Mr. Raj Purohit (name changed) embarked on a pilgrimage, but his inability to climb a hill signaled a deeper issue. Concerned, he sought advice from Dr. Sumit Goyal, a medical oncologist at RGCIRC, where he had been working for 25 years. After a series of tests, it was discovered that Mr. Purohit had cancer of the large intestine, specifically stage one colon cancer.
Devastated by the diagnosis, Mr. Purohit underwent a right hemicolectomy performed by Dr. Shivendra Singh, the chief of GI onco-surgery. The surgery was successful, and Mr. Purohit was relieved to learn that he did not require chemotherapy. Throughout his journey, he received exceptional support from the staff and management at RGCIRC, which helped alleviate the emotional and societal stress he experienced.
Further investigation revealed that Mr. Purohit carried a genetic mutation known as Lynch Syndrome, which predisposes individuals to certain types of cancers. This meant that 50 percent of his first-degree relatives, including his children, were also at risk of inheriting the mutation. Understanding the importance of identifying predispositions to cancer, Dr. Anurag Mehta, the Director of the Department of Laboratory and Transfusion Services, emphasized the significance of genomic testing.
Through screening and testing, the genetic alteration was confirmed, and Mr. Purohit’s family members were advised to undergo enhanced surveillance and risk-reducing measures. Regular colonoscopies became part of Mr. Purohit’s post-surgery routine, and additional excisions were performed for other Lynch-associated cancers, such as skin cancer.

The importance of molecular diagnostics and genomic testing in cancer care became evident in Mr. Purohit’s case. By identifying genetic alterations and understanding the type of tumor, precise therapeutic recommendations could be made, leading to more effective treatment outcomes. Molecular profiling also played a crucial role in predicting prognosis, monitoring therapy response, and facilitating early detection of recurrences.
Mr. Purohit highlights the importance of early detection and regular screenings. “Cancer can be cunning and silent, but early detection can make all the difference,” he asserts. “I urge everyone to prioritize their health and get regular check-ups. It’s better to be safe than sorry.”
He continues, “I also want to emphasize the significance of a supportive healthcare team. The doctors, nurses, and staff at the hospital provided exceptional care and support throughout my journey. They not only treated my physical ailments but also offered emotional support, which made a world of difference in my recovery.”
The role of the laboratory expanded significantly in the past decade, offering not only diagnostic services but also genetic testing for predispositions, selecting appropriate therapies through biomarkers, prognosticating cancer behavior, and monitoring response to treatment. RGCIRC’s genomic lab stood out in India, providing cutting-edge technology and unmatched testing capabilities.
While the advancements in molecular diagnostics brought immense benefits, they also raised complex ethical dilemmas. Testing positive for an inherited cancer gene could induce fear and anxiety about the future and passing on the mutation to the next generation. Therefore, counseling and informed decision-making became essential components of the process.
Despite the challenges and ethical considerations, the value of genomic testing in cancer prevention, treatment selection, and personalized care was undeniable. By understanding and repairing the damaged codes of life, the laboratory at RGCIRC played a critical role in guiding patients and providing them with the best possible outcomes.
Mr. Purohit, grateful for the care he received, praised the pathologist and the entire team for their expertise and dedication. With his physical and mental health intact, he acknowledged the crucial role the laboratory played in saving his life and passing on a culture of excellence and compassion at RGCIRC.