- Over 7,000 rare diseases exist, many with genetic origins and overlapping symptoms
- Genomic testing enables faster, precise diagnosis by analyzing thousands of genes at once
- Early genomic diagnosis allows personalized treatment and targeted medical interventions
There are more than 7,000 known rare diseases worldwide, as per the data released by World Health Organisation, and many are genetic in origin. Individually, each condition affects a small number of people, and its symptoms often overlap with common illnesses. A child with developmental delay, seizures or unexplained muscle weakness may undergo years of testing before a cause is identified. This delay, sometimes called the "diagnostic odyssey", can prevent early treatment and supportive care. "When a child falls sick repeatedly without a clear cause, or an adult spends years visiting specialists without a diagnosis, the emotional and financial strain can be immense. This is a common reality for families affected by rare diseases. Although each rare disease affects only a small number of people, together they impact millions worldwide," says Dr Hemlata Wadhwani Bhatia, Vice-President, Genomics, Agilus Diagnostics. "One of the greatest challenges is delayed diagnosis, often because the root cause lies hidden in the genes," she adds.
How Genomics Makes A Difference
1. Identifying The Root Cause
"Genomics involves the comprehensive analysis of an individual's genetic makeup. Unlike older approaches that examined one gene at a time, modern techniques such as whole exome sequencing and whole genome sequencing analyse thousands of genes simultaneously. This has significantly improved the ability to pinpoint the exact mutation responsible for a disease," says Dr Bhatia.
Also read: Rare Diseases Affect 1 In 20 Indians: Doctor Explains Why Awareness Is The First Cure
Genomic testing can pinpoint specific mutations responsible for a disease. Instead of treating symptoms blindly, doctors can understand the exact biological cause. For example, certain inherited metabolic disorders can now be diagnosed early through genomic analysis, allowing targeted dietary or medical interventions.
2. Faster Diagnosis
Traditional testing may involve multiple scans, biopsies and specialist consultations. Genomic testing can sometimes provide answers in weeks rather than years. Early diagnosis helps families make informed decisions about treatment, therapy and long term planning.
3. Personalised Treatment
Once a genetic mutation is identified, treatment can be tailored accordingly. In some cases, specific medications are available that directly target the faulty gene pathway. According to Dr Bhatia, in infants and children with intellectual disability, seizures, developmental delays, or recurrent infections, genomic testing is increasingly becoming part of the diagnostic workup. For families, this can mean receiving answers within weeks instead of enduring months or years of uncertainty. A confirmed diagnosis also helps families understand recurrence risks in future pregnancies and seek appropriate genetic counseling.
4. Family Planning And Genetic Counselling
If a rare disease is confirmed to be genetic, families can receive counselling about recurrence risks in future pregnancies. Carrier screening and prenatal testing become possible, empowering families with information and choice.
Genomics In Newborn Screening
In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth. With advances in genomics, expanded screening panels may detect additional rare disorders before symptoms begin.
Dr Bhatia went on to say that a timely genomic diagnosis can be life-changing. Children once facing uncertainty can begin targeted treatment, and families can plan for the future with clarity. Genomics does not replace clinical judgment, it strengthens it. By exploring the blueprint of life, we now have the opportunity to transform rare disease care through early, accurate, and personalised diagnosis.
Challenges And Ethical Considerations
While genomics offers immense promise, it also raises important questions.
- Not all genetic variations are fully understood
- Some findings may be incidental or unrelated to current symptoms
- Testing can be expensive and may not always be accessible
- Privacy and data security must be carefully managed
Doctors emphasise that genomic testing should be guided by trained specialists and accompanied by proper counselling.
Who Should Consider Genomic Testing?
A doctor may recommend genomic testing if:
- A child has unexplained developmental delays
- There are multiple congenital abnormalities
- family history suggests inherited disease
- Standard tests fail to provide answers
- Symptoms are severe but do not fit a clear diagnosis
Early referral to a genetic specialist can make a significant difference.
The Future Of Rare Disease Detection
Advances in artificial intelligence and global genetic databases are making genomic interpretation more accurate. As more people undergo testing, scientists gain better insight into rare mutations and their clinical significance. Experts believe that in the future, genomic data may become part of routine healthcare, allowing doctors to predict and prevent disease rather than react to it. Rare diseases often remain undetected for years, causing emotional and physical strain. Genomics offers a powerful tool to uncover hidden genetic causes early, enabling faster diagnosis, personalised treatment and better long term care.
Also read: Children With Rare Disorders At Risk Due To Interruptions In Treatment: Medical Group
Dr. Bhatia says, "A timely genomic diagnosis can change life. Children once facing uncertainty can begin targeted treatment, and families can plan with clarity. Genomics does not replace clinical judgment; it strengthens it. By exploring the blueprint of life, we now could transform rare disease care through early, accurate, and personalized diagnosis." While challenges remain, the integration of genomics into clinical practice is transforming how doctors approach rare conditions. For many families, it could mean the difference between uncertainty and clarity. Early answers can change lives, and genomics is helping make those answers possible.
Disclaimer: This content including advice provides generic information only. It is in no way a substitute for a qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.
