Clinician Perspectives and Processes Impact Genetic Testing Completion in Autism: A Mixed Methods Survey

Background: Despite consensus guidelines that genetic testing should be offered to all patients with non-syndromic autism spectrum disorders (ASD), research shows low utilization rates for any genetic test (41-51%), and lower (13-20%) for chromosomal microarray (CMA). In 2013, the Boston Children's Hospital Autism Spectrum Center instituted practice guidelines calling for Fragile X and CMA testing for all children with non-syndromic ASD. Data from February 2015 through January 2016 demonstrated that only 40% of our patients with a new ASD diagnosis were undergoing CMA despite these guidelines.

Objectives: To better understand the low rate of completion of genetic testing, we conducted an anonymous mixed methods survey of providers in the Boston Children's Hospital Autism Spectrum Center about their perspectives on genetic evaluation in ASD, current processes and barriers to testing.

Methods: A survey was sent electronically to 59 providers in the Department of Neurology and the Division of Developmental Medicine at Boston Children's Hospital. Nurse practitioners, neurologists, psychologists, developmental-behavioral pediatricians and neurodevelopmental disabilities specialists who perform diagnostic evaluations in the Autism Spectrum Center were included. Trainees in clinical psychology, developmental-behavioral pediatrics and neurodevelopmental disabilities were also included. Questions covered the areas of current practice, knowledge gaps, and obstacles clinicians face.

Results: Thirty providers completed the survey for a 50.8% response rate, with equal representation across Neurology and Developmental Medicine. The majority of respondents were attending physicians (n=15, 50.0%), followed by physician trainees (n=8, 26.7%), attending psychologists (n=5, 16.7%) and nurse practitioners (n = 2, 6.7%). These providers were performing new diagnoses frequently, with 86.7% of respondents diagnosing ASD at least 1-3 times per month. All clinicians recommended genetic testing often or always, and 69.0% believed that families are often interested in genetic testing (compared to 3.4% = "always," 27.6% = "sometimes").

The most common reason providers did not recommend genetic testing for ASD was forgetfulness (n=7, 23.3%). While 96.7% of respondents endorsed discussion of the importance of testing with families, only 40% affirmed they typically discuss testing methods like identification of deletions/duplications on CMA, and just 3.3% endorsed explanation of the possibility of detecting consanguinity with single nucleotide polymorphism-based CMAs. In terms of process gaps, for patients initially denied coverage, some providers (19.2%) did not pursue genetic testing further, while others (30.8%) referred families to the Genetics Division to resolve insurance coverage issues. One major barrier appeared to be prior authorization for genetic testing, with 52.0% of providers reporting being uncomfortable with the process. Free-text comments on barriers to genetic testing centered on the "confusing and difficult" insurance authorization process and need for additional resources.

Conclusions: Providers across Neurology, Psychology and Developmental Pediatrics are on the front lines of the initial genetic evaluation of children with ASD. We identified variability in provider self-reported comfort, counseling and processes, which impact which children with ASD complete standard-of-care genetic testing. Further work and resources are required to generate a simple centralized system to tackle this complex but surmountable challenge for providers and families alike.