Dr. Amit K Jotwani is a leading oncologist at the forefront of precision cancer medicine. We spoke with him about the rapidly evolving landscape of cancer care — from early diagnosis and prevention to the latest targeted therapies and immunotherapies transforming outcomes for cancer patients.
How Has Cancer Diagnosis Changed in Recent Years?
"The transformation has been extraordinary," Dr. Jotwani says. "When I started my career, cancer diagnosis was primarily based on histopathology — looking at tumor cells under a microscope. Today, molecular and genomic profiling of tumors is standard of care for many cancers. We're not just identifying what type of cancer a patient has; we're identifying the specific genetic mutations driving their cancer — and using that information to select the most effective targeted therapy."
He highlights liquid biopsy as a particularly exciting development. "The ability to detect tumor DNA circulating in the blood — without a tissue biopsy — is transforming how we monitor treatment response and detect resistance mutations early. It's also opening the door to early cancer detection in high-risk individuals."
What Role Does Genetics Play in Cancer Prevention?
"Genetics is the foundation of cancer prevention," Dr. Jotwani emphasizes. "Approximately 5–10% of cancers are caused by inherited mutations in cancer predisposition genes. Identifying these mutations allows us to implement enhanced surveillance and preventive interventions before cancer develops."
He gives the example of BRCA mutations. "A woman who knows she carries a BRCA1 mutation can start annual MRI screening from age 25, consider risk-reducing medications, and make an informed decision about preventive surgery. These interventions dramatically reduce cancer mortality. But they only work if the mutation is identified — which requires genetic testing."
He also emphasizes the importance of genetic testing for all cancer patients. "When a patient is diagnosed with cancer, germline genetic testing should be part of the workup — not just to guide their own treatment, but to identify inherited mutations that have implications for their family members. A BRCA mutation found in a cancer patient means their siblings and children should be offered testing."
What Are the Most Exciting Developments in Cancer Treatment?
"Immunotherapy has been the most transformative development in oncology in decades," Dr. Jotwani says. "PD-1/PD-L1 inhibitors have produced durable remissions in cancers that were previously rapidly fatal — including advanced melanoma, lung cancer, and bladder cancer. And we're learning that response to immunotherapy is influenced by genetic factors — tumor mutational burden, microsatellite instability status, and specific genetic variants in immune regulation genes."
He also highlights the rapid expansion of targeted therapies. "We now have targeted therapies for EGFR-mutant lung cancer, HER2-positive breast cancer, BRAF-mutant melanoma, BRCA-mutant ovarian and breast cancer, and many other genetically defined cancer subtypes. The key is identifying the specific mutation — which requires comprehensive tumor genomic profiling."
FAQs
Should everyone get genetic cancer risk testing?
Genetic cancer risk testing is most clearly indicated for people with a personal or family history of cancer, particularly early-onset cancer or multiple family members affected. Population-wide testing for high-risk mutations like BRCA1/2 is being studied and may become standard in the future.
Know Your Genetic Cancer Risk — Before Symptoms Appear
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