This article was first published on June 15, 2015 in Express Healthcare. Written by Anu Acharya, CEO, MapmyGenome.
A Paradigm Shift in Medicine
History teaches us that innovations in science and technology have the potential to revolutionise the practice of medicine. The most promising game changer for this century is genetics. Translational science and precision medicine are trending domains pursued by governments, industry, academia, and the medical fraternity worldwide.
After the usual hype and hyperbole for a decade or so, genomics has become part of clinical practice globally — and has the power to revolutionize healthcare in India.
Opportunities and Missed Chances
In the mid-19th century, Dr John Snow demonstrated the link between contaminated water and cholera — yet the medical fraternity ignored it for years. In contrast, just six months after the discovery of X-rays in 1895, doctors were already using them on wounded soldiers. One is a case of missed opportunity; the other, human resourcefulness at its best.
When Angelina Jolie announced her double mastectomy following BRCA genomic testing, it sparked global awareness about hereditary cancer risk — contributing more to public education than any campaign could aspire to.
Clinical Utility of Genomic Tests
Early Detection
Early detection enhances treatment efficiency while reducing healthcare costs. Genetic screening is a powerful tool for hereditary cancers like Lynch syndrome and Familial Adenomatous Polyposis (FAP). Genetic tests can identify causal mutations before tumorigenesis — and check if blood relatives are at risk too.
Predictive Testing & Prevention
Genetic tests can be used as predictive testing to determine the chances of a healthy individual developing a condition, or presymptomatic testing for those with a family history but no current symptoms. The consulting physician can then recommend further tests, treatment, or prophylactic measures.
Drug Response (Pharmacogenomics)
A significant percentage of people cannot metabolize drugs like clopidogrel efficiently due to variants in the CYP2C19 gene. Genetic testing identifies these individuals, helping doctors make more informed prescribing decisions — saving time, money, and potentially lives.
Rare Diseases
In families with rare diseases, the journey from symptom onset to diagnosis can take an enormous emotional, physical, and economic toll. Genetic testing makes diagnosis faster and more precise.
Family Health & Reproductive Planning
Couples planning a family can undergo genetic testing to determine if they are carriers of inherited conditions. Prenatal diagnosis and newborn screening are equally important for early detection and treatment.
The Road Ahead
For genomics to scale to its potential in India, all stakeholders need to act: physicians need education on clinical utility, the government needs to invest in precision medicine infrastructure, and a strong regulatory framework is essential. Genetic counsellors should be integrated into hospitals to offer counselling alongside doctors’ recommendations.
Genetic tests are here to stay. In a few years, the entire healthcare scenario is likely to shift to individual-centric, prevention-focused medicine. Now is the right time for India’s medical community to take this giant leap into tomorrow.
Read the original article on Express Healthcare →
🧬 Experience Precision Medicine for Yourself
Genomepatri by MapmyGenome puts the power of genomic diagnostics in your hands — screening 100+ health conditions, drug responses, fitness traits, and nutritional needs from a simple saliva sample.
→ Order Genomepatri — India’s Most Comprehensive DNA Health Test
Questions? Reach us at info@mapmygenome.in or call 1800 102 4595.
