Consultant, Molecular Haematology & Oncology, Fortis Memorial Research Institute, Gurugram
Part 6 of 9 in Genomics Revolution in Cancer
Liquid Biopsy for Cancer Screening: What's Proven and What's Still Under Research
January 19, 2025
Catching Cancer Through a Blood Draw
Liquid biopsy uses circulating tumour DNA found in an ordinary blood sample to try to catch cancer earlier, without needing tissue taken directly from a tumour. The appeal is straightforward: a blood draw is far less invasive than a tissue biopsy, and it can, in principle, be repeated easily to track a cancer over time.
Proven for Lung Cancer, Still Investigational Elsewhere
For lung cancer specifically, using liquid biopsy this way is already mandated and recommended by clinical guidelines. For most other cancers, using it to catch early-stage disease is still under active research and not yet part of routine, guideline-based care.
A Second Use: Monitoring Treatment Response
The same underlying idea, measuring how much of a specific DNA signature is circulating in the blood, already has a proven use in monitoring treatment for hepatitis B related liver cancer. Chronic hepatitis B infection is itself a cause of liver cancer, and tracking hepatitis B virus DNA levels in a patient's blood shows whether they are responding to treatment.
This guide is based on a live Jivo Masterclass: Dr. Shrinidhi Nathany taught doctors across Africa on January 19, 2025.
FROM THE LIVE Q&A
Moderator
Can molecular genomics help in preventing aging?
Dr. Shrinidhi Nathany
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.
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Frequently Asked Questions
Can you clarify more about gene therapy?▼
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.
Can we do genomic modifications to prevent cancer?▼
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.
What are the common tumour marker genes tested for routinely?▼
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.
Is it possible to combine genes from three people to get the desired characteristics of a baby?▼
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.
I didn't understand well the difference between genetics and genomics. Based on which examination or test can we know genetic and genomic compatibility?▼
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.
What is liquid biopsy?▼
A blood test that looks for circulating tumour DNA, aiming to detect cancer without needing tissue taken directly from a tumour.
Is liquid biopsy for early cancer detection already standard practice?▼
Only for lung cancer, where it is already mandated and recommended by guidelines. For most other cancers it remains under research.
Can genomic testing help monitor hepatitis B related liver cancer?▼
Yes. Tracking hepatitis B virus DNA levels in the blood shows whether a patient is responding to treatment, since chronic hepatitis B infection is itself a cause of liver cancer.
In This Series: Genomics Revolution in Cancer
- 1.Genomics Revolution in Cancer
- 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