Consultant, Molecular Haematology & Oncology, Fortis Memorial Research Institute, Gurugram
Part 9 of 9 in Genomics Revolution in Cancer
Genomics Beyond Cancer: Cardiology, Neurology and Pre-Marital Screening
January 19, 2025
One Toolkit, Many Specialties
Genomics applies well beyond cancer. In cardiology, it can generate a polygenic risk score indicating whether an individual carries a higher genetic risk of a cardiac event, informing lifestyle advice before any event occurs. Longevity testing, built on the same genomic principles, can estimate a person's biological age against their chronological age and guide diet, therapy and lifestyle changes intended to close that gap. In neurology, genomics helps diagnose conditions ranging from Alzheimer's disease and other dementias to brain tumours. In gastroenterology, it covers liver disease and gastric conditions, some of which carry an inherited predisposition that changes treatment depending on which gene is involved.
Pre-Marital Genetic Screening
The United Arab Emirates has mandated pre-marital genomic testing specifically to reduce genetic disease in infants born to related couples. Two carriers who each silently carry the same inherited mutation, while healthy themselves, face a real risk of passing a serious inherited disorder on to their children.
Why Uptake Still Lags
Despite this range of uses, Dr. Nathany was candid about the barriers. Awareness of genomic testing remains low even among clinicians, particularly outside major cities. The ethical and regulatory framework for handling personal genetic information is still underdeveloped in many parts of the world. And cost remains a real constraint, since government and insurance coverage for these tests is limited in most countries, leaving many patients to pay out of pocket.
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 are the common tumour marker genes tested for routinely?
Dr. Shrinidhi Nathany
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.
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Frequently Asked Questions
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 test is used for [pre-marital] compatibility genomics?▼
It is called genome sequencing.
How did the robot help in the testing process?▼
The robot helps us prepare the sample inside the machine and helps us detect which gene is there.
What about the cost and outcome? Is it relatable, and what about affordability for middle-income countries?▼
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.
What is a polygenic risk score used for?▼
To indicate whether an individual carries a higher genetic risk of a cardiac event, so lifestyle advice can be given before any event occurs.
What has the United Arab Emirates mandated around genetic testing before marriage, and why?▼
Pre-marital genomic testing, to reduce the risk of genetic disease in infants born to related couples who may unknowingly share the same inherited mutation.
What are the main barriers to wider genomic testing uptake?▼
Low awareness even among clinicians outside major cities, an underdeveloped ethical and regulatory framework for personal genetic information in many countries, and cost, since insurance and government coverage remain limited.
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