Genetic diagnosis of autism spectrum disorder in the Minds for Minds and Growing up in New Zealand cohorts

Dr Jessie Jacobsen
University of Auckland

In 2017, Cure Kids collaborated on a joint, contestable funding round with The National Science Challenge, A Better Start. The aim of the partnership was to fund high-quality, mission-led research focused on child and youth well-being, specifically in the areas of childhood obesity, early literacy and learning, mental health problems, and autism spectrum disorder (ASD). In July, 2017, ten projects were funded across the four specific areas.


What is the problem and who does it affect?

Autism spectrum disorder (ASD) is a lifelong, pervasive, neurological assessment disorder characterised by impairments in social interaction and repetitive behaviours. ASD prevalence has increased in recent decades and is now one of the most common developmental disorders in children.  However, we don’t understand all the reasons for this increase.

We are learning more about ASD each year, and this insight is being greatly bolstered by the ability to read the genome – the complete set of someone’s genes – of children with ASD.

The price of sequencing a person’s genome has decreased by some order of magnitude over the past 15 years. The first human genome took 15 years to sequence and cost an eye-watering $2.6b to complete. Advances since then have seen the price drop precipitously to the point where it now costs around $1000.


What does this project hope to achieve? 

The research team, from the University of Auckland, will develop a novel method to genetically screen children with confirmed ASD, from the cohort studies Growing Up in New Zealand and Minds for Minds.  The primary aim of the project is to develop, and transfer into clinical practice, novel technologies, materials and protocols for cost-effective screening of the most frequently affected genes in children diagnosed with ASD. In addition, it is predicted that testing during the project will return a genetic diagnosis for around 30-90 of the 300 children, which will enable more targeted interventions and improved management for them.

The research team will also include a large number of Maori and Pacific families who have been previously underserved in ASD-related research. The cohort studies being used, especially Growing Up in New Zealand, represents the diversity of New Zealand’s child population, with 24 per cent of the nearly 7000 children identifying as Maori.

This research is critical as we face increasing incidences of ASD year on year. The advances brought about by cost-effective sequencing of genes offers a great opportunity to improve our understanding of ASD at a more refined level, with the ultimate goal of improving the lives of all those children affected.