Question 1

Can you clarify what you meant about liquid biopsy screening still being under research, and whether that applies to lung cancer too?

Dr. Shrinidhi Nathany · Accepted Answer

In lung cancer, liquid biopsy, which uses circulating tumour DNA in blood, is already recommended by guidelines and proven, to identify the gene mutations that guide targeted treatment. As a screening approach to catch early-stage disease in 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.

Question 2

What has caused the rise in cancer in the world today?

Dr. Shrinidhi Nathany · Accepted Answer

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: at least 30 percent of cancers are genetic, so we need to test to understand those cases.

Question 3

Can you clarify what CRISPR-Cas9 is?

Dr. Shrinidhi Nathany · Accepted Answer

CRISPR-Cas9 is a gene-editing technology used in gene therapy. CRISPR is the guide that finds the exact spot in the gene, and Cas9 is the enzyme that cuts the DNA there so it can be edited. In blood disorders, the patient's own stem cells are edited in the lab and then given back to the patient. It is not yet available in all countries.

Question 4

What is the most common genetic cancer?

Dr. Shrinidhi Nathany · Accepted Answer

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.

Question 5

Can molecular genomics help in preventing aging?

Dr. Shrinidhi Nathany · Accepted Answer

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.

Question 6

Can you clarify more about gene therapy?

Dr. Shrinidhi Nathany · Accepted Answer

For example, sickle cell anaemia is caused by a point mutation where only one letter in the genome is changed. In gene therapy, the patient's own blood stem cells are collected and modified in the lab, editing that changed letter back. After chemotherapy to make space, the modified cells are given back through an IV line. That is what gets integrated into the patient, and the disease can be cured. That is what gene therapy is.

Question 7

Can we do genomic modifications to prevent cancer?

Dr. Shrinidhi Nathany · Accepted Answer

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.

Question 8

What are the common tumour marker genes tested for routinely?

Dr. Shrinidhi Nathany · Accepted Answer

The recommendation is to test at least 50 genes, covering the actionable genes for each cancer type, particularly in advanced lung, colorectal, ovarian, prostate and breast cancer. If somebody is interested I can send the list across to the Jivo team and they can share it with everybody.

Question 9

What is the difference between genetics and genomics?

Dr. Shrinidhi Nathany · Accepted Answer

The difference between genetics and genomics: genetics is the study of individual genes and how they are inherited. Genomics is the study of the whole genome, all the genes together and how they interact. You are a clinician seeing the patient; in the lab we look at the genome.

Question 10

Which test shows genetic or genomic compatibility?

Dr. Shrinidhi Nathany · Accepted Answer

It depends on the purpose. For transplant compatibility it is HLA typing. For couples planning a family, it is carrier screening, which can be done with gene sequencing.

Question 11

How does the robot help, and does it guide the kind of treatment needed for a cancer?

Dr. Shrinidhi Nathany · Accepted Answer

The robot helps us prepare the sample inside the machine and helps us detect which gene is there.

Question 12

What about the cost and outcome? Is it relatable, and what about affordability for middle-income countries?

Dr. Shrinidhi Nathany · Accepted Answer

Yes, the cost is very much relatable to the outcome. These therapies can be obtained at much lower cost in middle-income countries, and patient access programmes reduce the cost of the medicines further. The tests themselves cost between $300 and $1,000.

Question 13

How can you treat Alzheimer's disease using molecular genetics?

Dr. Shrinidhi Nathany · Accepted Answer

You can't really treat Alzheimer's disease based on molecular genetics, but in the small number of families with inherited early-onset Alzheimer's disease you can at least find the gene causing it, so that the other family members can be helped.

Question 14

What about chronic hepatitis and hepatic carcinomas, an infection causing cancer? Can genomics help here too?

Dr. Shrinidhi Nathany · Accepted Answer

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.

Question 15

I'm interested to know what genomic sequencing is all about.

Dr. Shrinidhi Nathany · Accepted Answer

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.

Question 16

How can genomics be applicable across medicine?

Dr. Shrinidhi Nathany · Accepted Answer

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.

Live Discussion with Dr. Shrinidhi Nathany