Your genes may hold the key to a healthier future. They may reveal the health risks you might face later in life, giving you the opportunity to invest in your future health at a younger age, take early action and, in some cases, prevent or delay the onset of certain conditions for which you may have a genetic predisposition.
This World Population Day let us take a moment to explore India’s genetic diversity which is as intriguing as it is fascinating, presenting a unique opportunity to uncover valuable insights into diseases, empowering doctors to diagnose early and manage the disease better to improve patient outcomes.
For thousands of years, many communities across India married within their own group. Villages stayed close-knit, castes stayed separate, and tribal communities often remained isolated by geography as much as by choice. That pattern of marrying within the same social circle, generation after generation, concentrated certain traits and inherited certain risks within those specific communities. This is commonly known as a founder effect and such groups are referred to as founder populations. India’s rich diversity of founder populations offers valuable opportunities to identify inherited disease-causing variants, discover previously unrecognised rare genetic conditions and better understand their patterns of inheritance.
Sickle cell disease is one such good example. A rare disease, which is common in certain tribal belts of Madhya Pradesh and Chhattisgarh and frequently goes undiagnosed until later in life simply because it is not screened for, early enough. Thalassemia is another such condition which doctors encounter, with prevalence varying from state to state, almost tracing the marriage patterns of communities. Similar patterns are being recognized in other metabolic conditions as well. Certain communities appear to have a higher inherited tendency toward elevated cholesterol, fatty liver disease, or early cardiovascular disease, even in people who do not fit the traditional risk profile. While lifestyle remains an important factor, genetics can influence how these conditions develop and how early they appear.
This raises a genuine concern within the medical community. Most of the information we have had is from research in populations mostly in Europe and North America. However, India, with its thousands of distinct communities, does not fit completely into this genetic blueprint. For years, this gap existed quietly in clinical practice, because genetic testing was expensive and inaccessible, and Indian populations were underrepresented in global genetic research.
That has gradually changed over the past decade and doctors can now prescribe genetic testing to patients, especially at the premarital and pregnancy stage. In India, where arranged marriages and community-based matchmaking remain common, premarital genetic screening is increasingly being recommended in regions with a known history of certain inherited conditions. For couples in areas with a higher prevalence of thalassemia or sickle cell disease, a simple blood test can detect whether either partner carries the trait, well before it becomes a concern for their children. If both partners are found to be carriers, doctors can counsel them on the risks involved and the options available, rather than families discovering this only after a child is born with the condition.
Individuals with a family history of recurrent pregnancy loss, infertility, or children born with unexplained developmental disorders may benefit from targeted genetic evaluation to identify inherited chromosomal or single-gene conditions that could affect future pregnancies. For families with a history of unexplained heart problems or sudden cardiac events, genetic cardiac panels can now identify inherited mutations linked to certain cardiomyopathies, allowing for earlier monitoring rather than post- natal diagnosis. And for individuals with a family history of diabetes, especially in populations known to develop it at lower age or body weights, doctors often recommend earlier and more frequent blood sugar screening starting well before the age most guidelines suggest.
What it means is that family history and community genetic background are pieces of information worth bringing up during a premarital consultation or a routine check-up. Premarital testing, should be framed as an empowering choice for couples, not a source of stigma for families who test positive as carriers.
India’s population is not only one of the largest in the world; but also among the most genetically diverse and we are only just beginning to understand its role in transforming disease detection and management. The more these patterns are understood, the closer healthcare gets to something that brings about a positive change in the lives of patients and impacts health care outcomes for the entire population.
(The views expressed are personal)
This article is authored by Venkataswamy Eswarachari, associate vice president and senior director, Lab Operations, MedGenome.
