Consultant, Molecular Haematology & Oncology, Fortis Memorial Research Institute, Gurugram
Part 5 of 9 in Genomics Revolution in Cancer
Pharmacogenomics: How Genes Shape Drug Response and Side Effects
January 19, 2025
Why the Same Drug Doesn't Work the Same Way Twice
Two people can react very differently to an identical medicine purely because of genetic variation. A drug as ordinary as paracetamol can cause fewer side effects in one person's genetic makeup and more in another's. This genetics of drug response, known as pharmacogenomics, explains why a standard dose that suits one patient can be too much, or too little, for the next.
Where Pharmacogenomics Matters Most
Dr. Nathany singled out three areas where this matters most in practice: childhood cancers, where matching therapy to a child's genetic profile can materially change outcomes; some adult cancers, including colon cancer; and psychiatric medication, where genetic variation in drug metabolism can change both effectiveness and side-effect burden. In each case, testing a patient's genetic profile before prescribing, rather than relying on a standard dose, can reduce trial-and-error treatment and its associated side effects.
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
What is the most common genetic cancer?
Dr. Shrinidhi Nathany
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.
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Frequently Asked Questions
Can molecular genomics help in preventing aging?▼
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.
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.
What is pharmacogenomics?▼
The study of how a person's genetic makeup affects their response to a particular drug or therapy, including how much benefit and how many side effects they experience at a given dose.
Which areas of medicine rely most on pharmacogenomics testing?▼
Childhood cancers, some adult cancers such as colon cancer, and psychiatric medication, according to Dr. Nathany.
Can two patients react differently to the same drug because of genetics?▼
Yes. The same medicine, even something as common as paracetamol, can produce fewer or more side effects in different patients purely because of genetic variation.
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