Shining a light on Autism: An Interview with Dr Martin Mistrik, Unilabs Genetics

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that affects individuals in various ways. It encompasses a wide range of symptoms, including challenges with social skills, repetitive behaviours, and communication difficulties.

As a leading diagnostics company, Unilabs is at the forefront of providing insights into neurodevelopmental conditions. 

On World Autism Day, we have the privilege of speaking with Dr Martin Mistrik, a dedicated geneticist at Unilabs, to shed light on this important topic.

What are some of the key challenges in accurately diagnosing autism, and how does Unilabs address these challenges through its diagnostic services?

Autism is a significant disorder, with its prevalence steadily rising, particularly noted in developed nations, where it currently stands at 1-2%. Moreover, it tends to affect boys at a higher rate. Diagnosis predominantly relies on clinical assessment, typically occurring during the preschool years. Genetic testing constitutes a crucial component of the diagnostic process, often revealing genetic anomalies in a subset of individuals with autism. In this context, the comprehensive suite of genetic laboratory tests provided by Unilabs proves invaluable for facilitating accurate genetic diagnoses in such cases.

Are there specific genetic tests or biomarkers that aid in the diagnosis of autism, and how do these contribute to a more precise understanding of the condition?

In our approach to identifying potential genetic contributors to autism, we employ various testing methodologies. Initially, cytogenetic testing is conducted, involving the analysis of the karyotype derived from peripheral blood samples. Subsequently, we delve deeper into the molecular landscape through SNP microarray or arrayCGH examinations, refining our understanding of chromosomal aberrations at a submicroscopic level. Should these initial analyses yield no conclusive findings, we proceed to investigate specific genetic loci, including the X chromosome fragmentation syndrome in boys and the MECP2 gene in girls. As a final diagnostic recourse, we may undertake panel analyses tailored to the individual, comprising either targeted gene panels focused on autism spectrum disorders or broader assessments such as clinical exome or WES. This diagnostic pathway is meticulously tailored to each patient, guided by the expertise of a medical geneticist.

What are some of the advancements in diagnostic tools or techniques that hold promise for improving the accuracy and efficiency of autism diagnosis?

Autism spectrum disorders encompass a diverse array of clinical presentations, often characterised by the co-ocurrence of ASD alongside accompanying diagnoses such as epilepsy, cognitive impairment, ataxia, and macrocephaly. Frequently, these complex cases trace their origins to genetic underpinnings. Emerging diagnostic methodologies, including massively parallel sequencing techniques, clinical exome scans, and whole exome sequencing (WES), are increasingly deployed in elucidating such complexities. It is anticipated that whole genome sequencing (WGS) will further augment our diagnostic capabilities in the future. 

How does Unilabs collaborate with healthcare providers and researchers to enhance the diagnostic capabilities for autism and other neurodevelopmental disorders?

As a leading provider of genetic laboratory testing services, Unilabs offers a comprehensive portfolio encompassing virtually all requisite tests essential for healthcare professionals attending to patients with autism spectrum disorder and associated conditions. Particularly, the inclusion of newer and more resource-intensive assays is guided by the recommendations of medical geneticists. Moreover, Unilabs extends its support through a network of medical genetics clinics, further reinforced by collaborative partnerships with other medical practitioners.