Telengana sees Surge in Premarital Genetic Testing Amid Rise in Rare Diseases
In recent years, Telangana has witnessed a significant increase in premarital genetic testing, a trend spurred by a rise in rare genetic disorders among newborns. These tests, which were once relatively uncommon, have become a crucial aspect of family planning for many couples in the state. The surge in demand can be attributed to greater awareness, accessibility of testing, and the decreasing cost of genetic testing. Additionally, the rise in fertility issues and growing concerns over hereditary diseases have further catalysed this shift.
Doctors in Hyderabad report a five-fold increase in the number of couples seeking genetic tests in the past decade. These tests typically screen for conditions such as spinal muscular atrophy (SMA), thalassemia, Duchenne muscular dystrophy (DMD), fragile X syndrome (FXS), and cystic fibrosis, which have a significant prevalence in India. Dr. Pavani Upendram, a consultant geneticist at KIMS Hospitals, noted that even non-consanguineous couples are increasingly opting for genetic testing. What once was a rare occurrence, with only a handful of tests conducted every month, now sees a steady stream of at least ten couples seeking genetic counselling each month.
The testing process involves collecting blood or saliva samples from the couple to check for genetic mutations that could affect the health of their future children. For many, the motivation behind the test is to make informed decisions. Some couples even cancel their marriages after discovering that they carry genes that could lead to genetic disorders in their offspring. Others, however, choose to proceed with the information at hand, opting for prenatal testing or early interventions that could mitigate risks and ensure the birth of a healthy child. With the rising costs of medical care and treatments, being proactive about genetic testing allows families to plan better for the future.
The financial aspect of premarital genetic testing has also evolved. A decade ago, these tests could cost up to Rs 55,000 for exome sequencing, but with advancements in technology, the prices have dropped substantially. Now, carrier screening tests cost between Rs 6,000 and Rs 8,000, while exome sequencing is available for approximately Rs 26,000. Anu Acharya, CEO of Mapmygenome, observed that the number of couples opting for genetic testing has increased by an astounding 40% to 65% annually. The tests have become particularly popular among professionals such as bureaucrats and software engineers, who are not only well-informed about the risks but also understand the value of preventive healthcare.
In terms of sustainability, premarital genetic testing is a step toward reducing the long-term healthcare burden by preventing hereditary diseases that would otherwise put pressure on both families and the healthcare system. By offering couples the ability to make informed choices, genetic testing plays an essential role in promoting the overall health of future generations. From a broader societal perspective, the widespread availability of genetic testing can help reduce the incidence of rare diseases, resulting in better health outcomes and less strain on public healthcare resources. It also aligns with sustainable practices, where informed decision-making can prevent costly medical treatments later on.
Looking ahead, the increase in premarital genetic testing represents a growing awareness of genetic health risks and the importance of early intervention. As the costs continue to decrease and more couples seek to understand their genetic risks, the practice is likely to become a staple in family planning across India. With a focus on preventive healthcare, genetic testing will not only reduce the burden of rare diseases but also provide a healthier, more sustainable future for generations to come.
