Genetic testing helps parents overcome guilt after an autism diagnosis
Published: October 09, 2026 07:10 AM IST
Many parents secretly harbour intense guilt, wondering if something they did during pregnancy or early childhood caused their child’s autism.
When a child is diagnosed with autism, one of the first questions parents ask is: “Why did this happen?” For decades, clinicians had no clear answers. However, rapid advancements in genetic testing are finally changing this landscape. While genetics play a massive role in autism spectrum disorder, for many children, it is a complex puzzle involving several minor genetic variations and environmental triggers that cannot be pinpointed with a single test. Despite this complexity, growing clinical evidence reveals that a definitive genetic cause can be identified in about 20% to 25% of cases. Knowing whether a child falls into this category can be life-changing for the family. Dr Roshan Daniel, clinical geneticist at Geneticdoc Genetic Clinic, Thiruvananthapuram, explains.
Finding answers and easing guilt
Many parents secretly harbour intense guilt, wondering if something they did during pregnancy or early childhood caused their child’s autism. A genetic diagnosis can bring immense emotional relief by offering a concrete biological explanation and reassuring parents that it was not their fault. It also gives paediatricians a roadmap, helping them understand how the condition is likely to progress so they can tailor future therapies and plan for the coming years.
Treatable metabolic causes
In a small percentage of children, autism is linked to neurometabolic disorders—conditions where the body cannot properly process certain nutrients. Some of these metabolic issues can be effectively managed with targeted dietary adjustments, vitamin supplements, or medication. Though rare, this is why early, detailed genetic evaluation is crucial, as timely intervention can significantly improve developmental outcomes.
Looking beyond the brain
Some genetic categories, known as syndromic autism, affect multiple parts of the body. Children with syndromic autism may also suffer from epilepsy, growth delays, or congenital issues involving the heart and kidneys. Identifying the specific underlying syndrome helps doctors know exactly what complications to monitor, enabling them to address potential issues before severe symptoms manifest.
Planning future pregnancies
Couples with an autistic child often ask: “Will our next child also have autism?” Generally, siblings of individuals on the autism spectrum do face a slightly higher risk. However, certain genetic mutations have a much higher recurrence rate. Identifying a precise genetic cause helps geneticists provide reliable options to parents planning another pregnancy, including pre-conception or prenatal genetic screening, alongside proper counselling for the extended family.
Real-world clinical outcomes
In our clinical experience over the past two years, we conducted genetic testing for around 100 children with autism. We identified a clear genetic cause in about 18 of them, enabling their families to make well-informed healthcare decisions and access targeted support.
What does the testing involve?
The testing process is simple and usually requires just a small blood sample. Because a single test cannot cover all genetic markers, clinicians may recommend up to three sequential tests depending on the child’s symptoms and family history. In India, the cost of these targeted genetic tests typically ranges from ₹10,000 to ₹50,000. Selecting the right sequence of tests with the help of a specialist prevents families from spending money on unnecessary diagnostics.
A clear way forward
Even if genetic test results return negative, the child will continue to receive the same dedicated love, therapy, and developmental support. However, a positive genetic diagnosis can unlock targeted clinical management, precise screening, and clear planning for the family’s future. For every family navigating autism, asking whether there is an underlying genetic factor at play is a crucial first step.