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Why Early Genetic Testing Matters for Children With Developmental Delays
Some children learn or grow more slowly than expected, and families may not know why.
The article says that genes can be part of the reason.
Genetic tests can sometimes help doctors find an answer sooner.
That answer may help doctors choose care that better fits the child.
Genetic counsellors explain what test results mean and what they do not mean.
They can also help families understand whether other relatives may need testing.
The article says diagnosis of rare genetic conditions in India can take years.
It recommends earlier testing and counselling as part of children’s care.
The article says developmental delays affect 1–3% of children worldwide and are a common concern in paediatric care.
It reports that genetic factors may contribute to 30–40% of unexplained cases, with chromosomal microarray and whole exome sequencing offering diagnostic yields of up to 50%.
The article argues early diagnosis can help tailor treatment, reduce lengthy diagnostic investigations, and inform family planning.
It cites an estimated 70 million people affected by rare diseases in India and a reported 5–7-year average diagnosis time for rare genetic conditions.
It recommends early genetic referral, a tiered testing approach, multidisciplinary care, and integrating testing and counselling into screening and intervention programs.
- Who
- Children with unexplained developmental delays and their families.
- What
- An argument for earlier genetic testing and counselling as part of care.
- Where
- The article focuses particularly on India.
- When
- The article discusses early referral and testing; it cites a 2024 survey on diagnosis times.
- Why
- To help identify possible causes, guide care, reduce prolonged investigations, and inform families about inherited risks.
Key facts
- Worldwide prevalence cited
- Developmental delays affect 1–3% of children, according to the article.
- Genetic contribution cited
- The article says 30–40% of unexplained cases may have a genetic component or risk predisposition.
- Potential diagnostic yield
- Chromosomal microarray and whole exome sequencing can reach diagnostic yields of up to 50%, the article says.
- Rare disease burden in India
- Estimated at 70 million people, according to the article.
- Reported diagnosis time
- A 2024 survey cited in the article found an average 5–7 years to diagnose rare genetic conditions in India.
- Suggested testing sequence
- Begin with chromosomal microarray, then consider whole exome sequencing or targeted panels.
- Recommended care approach
- Early referral and collaboration among paediatricians, neurologists, geneticists, and genetic counsellors.
Quotes
Article writer
Writer identified as Head - CSVG at Metropolis Healthcare Ltd.
“In the fight against unexplained developmental delays, genetic testing and counselling are not luxuries; they are lifelines. Every child deserves the chance for an early diagnosis, every family deserves clarity, and every society must recognise that investing in genetics today secures healthier generations tomorrow.”
thehansindia.com
Sources
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