Genetic Testing for Autism Faces Barriers and Insufficient Levels

Examining rates of genetic testing for autism spectrum disorder (ASD) and/or intellectual and developmental disorder (IDD) has revealed that most patients who could benefit from a genetic evaluation are not receiving one, according to new research published in the journal Autism.

The current study explored the role of genetic testing in diagnosing ASD and IDD, conditions with high heritability and minimal environmental influence. Genetic testing provides many benefits, including refined treatment plans, prognosis counseling, and access to resources. However, barriers such as cost, emotional stress, and concerns about genetic discrimination limit its widespread use. The aim of the study was to address these barriers, improve awareness, and evaluate adherence to recommended genetic testing guidelines, while examining demographic and external factors influencing access to testing for ASD and IDD.

Using a retrospective chart review design, the study reviewed electronic health records from multiple academic medical institutions across Florida and Georgia, focusing on patients diagnosed with ASD and/or IDD within a six-month period in 2021. Analysis included demographic, clinical, and genetic testing data, with statistical methods such as chi-square and two-proportion z-tests were used to identify disparities in genetic testing rates across demographic groups.

A total of 7539 patients met the inclusion criteria, with the majority identifying as men (69.6%) and White (68.1%). While 31% of patients overall received at least one genetic test, only 11% received concordant testing of Fragile X and at least one other test. Specifically, 14.6% received Fragile X Testing (FGX) testing, 20.1% received chromosomal microarray (CMA), 2.9% received whole exome sequencing (WES), 0.2% received whole genome sequencing (WGS), and 17.1% received a gene panel. 

Results demonstrated substantial disparities in the data regarding genetic testing for ASD and IDD according to gender, race, and insurance coverage. 

Relative to women, men patients were approximately 1.65 times more likely to receive the necessary concordant testing of FGX and CMA. Compared with White patients, Black patients were less likely to receive concordant testing. Lastly, results showed that patients with Medicaid were more likely to receive at least one genetic test, while those with Blue Cross Blue Shield or Medicare were less likely to receive an indicated genetic test. 

The researchers concluded that genetic testing is underutilized and concerning disparities exist surrounding who receives appropriate testing. The Study authors noted, “Addressing disparities in demographics alone does not resolve the problems seen in the data, as not all individuals who are evaluated for ASD/IDD undergo or are offered genetic testing.” 

One study author declared potential conflicts of interest with multiple professional organizations. Please see the original reference for a full list of authors’ disclosures.

This article originally appeared on Psychiatry Advisor