Genomics Revolution in Cancer
Consultant, Molecular Haematology & Oncology
Fortis Memorial Research Institute, Gurugram
January 19, 2025
Dr. Shrinidhi Nathany, a molecular haematology and oncology consultant at Fortis Memorial Research Institute, Gurugram, explains how genomic sequencing has replaced appearance-based biopsy readings as the basis for classifying and treating cancer. The session covers hereditary cancer risk testing, precision and targeted therapy, pharmacogenomics, liquid biopsy, gene therapy and the practical realities of cost and access to genomic testing today.
Questions Doctors Asked Dr. Shrinidhi Nathany
Real questions from the live masterclass, answered by Dr. Shrinidhi Nathany, Consultant, Molecular Haematology & Oncology.
Can you clarify what you meant about liquid biopsy screening still being under research, and whether that applies to lung cancer too?
Asked by Moderator
The cancer screening approach using liquid biopsy, which uses circulating tumour DNA in blood to catch early-stage disease, is still under research overall. In some cancers like lung cancer it has already been mandated and recommended by guidelines, but in other cancers it is still under research. For lung cancer specifically it is already recommended and proven; for other cancers it is still under research. And for any kind of inherited genetic disease, we can test the family and detect the genetic disease in other family members early.
Answered by Dr. Shrinidhi Nathany
Can liquid biopsy also be done for other purposes, not just lung cancer screening?
Asked by Moderator
Yes.
Answered by Dr. Shrinidhi Nathany
What has caused the rise in cancer in the world today?
Asked by Moderator
What has caused the rise in cancer is multifactorial. Number one is lifestyle. Number two is environmental insults like radiation and the kind of food we eat, and stress. But also underrated and underdiagnosed is genetics, and at least 30% of cancers are genetic, so we need to test to understand those cases.
Answered by Dr. Shrinidhi Nathany
Can you clarify what CRISPR-Cas9 is?
Asked by Moderator
CRISPR-Cas9 is a technology related to gene therapy that lets you edit the gene. CRISPR is gene editing, and the Cas9 technology is what lets us edit the gene, for example the gene causing type 1 diabetes mellitus, and deliver it back to the patient so the disease is cured. That is not yet available in all countries.
Answered by Dr. Shrinidhi Nathany
What is the most common genetic cancer?
Asked by Moderator
The most common genetic cancer, as it's the most commonly tested for, is breast cancer. Breast and ovarian cancer has a syndrome called hereditary breast and ovarian cancer syndrome, and that is the most common because it is right now the most tested for. However, there are many more cancers which can be inherited.
Answered by Dr. Shrinidhi Nathany
Can molecular genomics help in preventing aging?
Asked by Moderator
That is the most in-thing right now, which is longevity testing, which can tell you your actual biological age. Supposing you are 30 years of age by your date of birth, but because of stress your body may actually be 40 years old biologically. You can prevent that: we can first study why your body is aging faster, and then you can modify your lifestyle based on the genetics, what you should eat and what you should not eat and what kind of therapy you should take, and it gives you a lot of a personalised report.
Answered by Dr. Shrinidhi Nathany
Can you clarify more about gene therapy?
Asked by Moderator
For example, sickle cell anaemia is caused by a point mutation where only one letter in the genome is changing. So what we can do is if A is becoming B, we make the B back to A and edit that gene, and deliver it through an IV cannula in the form of a solution. That is what is going to get integrated into the patient, and the disease can be cured. That is what gene therapy is.
Answered by Dr. Shrinidhi Nathany
Can we do genomic modifications to prevent cancer?
Asked by Moderator
Well, not yet. What we can do is, supposing somebody in my family got cancer, I can get my genes tested so I know whether I am at risk of getting that cancer, and then I can try to catch it early, because once you're at a last stage it becomes difficult to cure. If you catch it early you can still cure the cancer.
Answered by Dr. Shrinidhi Nathany
What are the common tumour marker genes tested for routinely?
Asked by Moderator
The recommendation is to test at least 50 genes. If somebody is interested I can send the list across to the Jivo team and they can share it with everybody.
Answered by Dr. Shrinidhi Nathany
Is it possible to combine genes from three people to get the desired characteristics of a baby?
Asked by Moderator
Yes, that is what is called designer babies, which can be done. You cannot really extract only particular genes, but you can make designer babies now in the lab through clinical embryology.
Answered by Dr. Shrinidhi Nathany
I didn't understand well the difference between genetics and genomics. Based on which examination or test can we know genetic and genomic compatibility?
Asked by Jivo Doctor Partner (name unclear from transcript)
The difference between genetics and genomics: you are a clinician, you are seeing the patient. What you see in the patient is genetics. What I do in the lab is genomics.
Answered by Dr. Shrinidhi Nathany
What test is used for [pre-marital] compatibility genomics?
Asked by Jivo Doctor Partner (name unclear from transcript)
It is called genome sequencing.
Answered by Dr. Shrinidhi Nathany
How did the robot help in the testing process?
Asked by Jivo Doctor Partner (name unclear from transcript)
The robot helps us prepare the sample inside the machine and helps us detect which gene is there.
Answered by Dr. Shrinidhi Nathany
What about the cost and outcome? Is it relatable, and what about affordability for middle-income countries?
Asked by Moderator
Yes, it is very much relatable. The cost is relatable to the outcome because you can get those therapies for much lesser cost in middle-income countries, and there are also patient access programmes where they reduce the cost of these medicines. I already said it can be between $300 to $1,000.
Answered by Dr. Shrinidhi Nathany
How can you treat Alzheimer's disease using molecular genetics?
Asked by Moderator
You can't really treat Alzheimer's disease based on molecular genetics, but you can at least know what is causing the Alzheimer's disease so that the other family members can be helped.
Answered by Dr. Shrinidhi Nathany
What about chronic hepatitis and hepatic carcinomas, an infection causing cancer? Can genomics help here too?
Asked by Moderator
That is an infection causing cancer. But in this case too we can test for hepatitis B virus DNA, and we can monitor the disease by checking how much of that DNA is in the patient's blood, to see whether the patient is responding to treatment or not.
Answered by Dr. Shrinidhi Nathany
I'm interested to know what genomic sequencing is all about.
Asked by Moderator
All the genes in the body which cause some genetic disease or some kind of cancer, that is what we look at in genomic sequencing. We try to know what the sequence of that gene is.
Answered by Dr. Shrinidhi Nathany
How can genomics be applicable across medicine?
Asked by Moderator
In all aspects of medicine, it can be applied to know the diagnosis, to know the risk of the disease in the family, to also know what kind of therapy will work or not, and also for prevention.
Answered by Dr. Shrinidhi Nathany
Read the Full Article Series
- 1.Genomics Revolution in Cancer: A Complete Guide
- 2.Germline Versus Somatic Testing: The Two Pillars of Genomic Testing
- 3.How Genomic Sequencing Changed Precision Medicine in Stage 4 Lung Cancer
- 4.Hereditary Cancer Risk: BRCA, HBOC Syndrome and the Case for Family Testing
- 5.Pharmacogenomics: How Genes Shape Drug Response and Side Effects
- 6.Liquid Biopsy for Cancer Screening: What's Proven and What's Still Under Research
- 7.Inside Next Generation Sequencing: How Genomic Testing Actually Works
- 8.Gene Therapy and Genome Editing: From Sickle Cell Anaemia to CRISPR
- 9.Genomics Beyond Cancer: Cardiology, Neurology and Pre-Marital Screening
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