From Our Experts: Autism Screening
Dr. Risha Nahar Lulla, M.Sc (Glasgow, UK), PhD (Delhi, India), is the Principal Genetic Counsellor and Pharmacogenomics Expert at MapmyGenome. She is reputed to be India’s first Board Certified (Senior level) Genetics Counsellor with over 10 years of experience in the field of medical genetics. She has authored several international scientific papers and published the World’s first Genetic Bleeding Risk Algorithm for anticoagulant users.
“A diagnosis of mild autism-spectrum-disorder or natural human neurodiversity in play? — such a fine line.” — Dr. Risha Nahar Lulla, Principal Genetic Counsellor, MapmyGenome
Understanding Autism Spectrum Disorder (ASD)
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterised by challenges with social communication and interaction, and restricted or repetitive patterns of behaviour, interests, or activities. ASD is a spectrum — meaning it presents very differently in different individuals, from mild social communication differences to significant support needs.
The Genetics of Autism
ASD has a strong genetic component. Studies of twins show heritability estimates of 64–91%. However, the genetics of autism is highly complex — involving hundreds of genes, copy number variants (CNVs), and de novo mutations. No single gene causes autism in most cases. Instead, a combination of genetic variants, each with small effects, interacts with environmental factors to influence neurodevelopment.
Genetic testing can be valuable in ASD evaluation for several reasons:
Identifying a specific genetic cause (e.g., Fragile X syndrome, Rett syndrome, 22q11.2 deletion) can guide management and provide recurrence risk information for the family
Chromosomal microarray (CMA) is recommended as a first-tier genetic test for individuals with ASD, intellectual disability, or developmental delay
Whole Exome Sequencing (WES) can identify causative mutations in individuals where CMA is negative
The Fine Line: Diagnosis vs. Neurodiversity
As Dr. Risha Nahar Lulla notes, the line between a mild ASD diagnosis and natural human neurodiversity can be very fine. Genetic counselling plays a critical role in helping families understand what a diagnosis means — and what it doesn’t mean — for their child’s future, education, and quality of life.
Genetic Evaluation for Autism and Developmental Conditions
MapmyGenome offers chromosomal microarray, Whole Exome Sequencing, and certified genetic counselling for families navigating ASD and developmental conditions — with expert guidance from India’s most experienced genetic counselling team.
