Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders

Abstract

Objectives While national medical guidelines recommend genetic testing for all individuals with non-syndromic autism spectrum disorder (ASD), there is underutilization of genetic testing. This study aims to define the perspectives and approaches to initial genetic testing of ASD diagnosticians in order to improve utilization. Methods A prospective cross-sectional study was conducted using an anonymous online survey distributed to 59 staff neurologists, developmental-behavioral pediatricians, psychologists, post-graduate physician fellows, and nurse practitioners from a single academic medical center. Questions explored knowledge, attitudes, and practices of initial genetic testing for ASD among diagnosticians. Results Among the 30 respondents (51% response rate), a lack of comprehensive pre-test genetic counseling was identified and forgetfulness was the most prevalent reason for not recommending genetic testing (n = 7/23, 30%). Insurance prior authorization (PA) for genetic testing was a major barrier for clinicians. More than half of respondents (n = 13/25, 52%) reported being uncomfortable with the PA process. Conclusions Variability in knowledge and practices among ASD diagnosticians regarding genetic testing was identified. Therefore, potential interventions like clinician and administrative staff education, as well as genetic counselor integration into ASD clinics, may be useful to improve genetic testing utilization.

A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients

“…A national Australian study implementing rapid genome testing in critically unwell children found the clinical impact of practitioners having limited experience or awareness of genetics referral pathways resulted in referral delays for testing 20 . Similarly, a pediatric study of non‐syndromic genetic testing in patients with an Autism diagnosis, surveying healthcare professionals, found more than 50% of respondents felt uncomfortable with the process for genetic testing authorization 21 . Lack of experience of healthcare professionals has been cited as a major challenge broadly across multiple sub‐specialized fields of genetics implementation 22 …”

“…In our review, consumers were also concerned about data sharing, privacy, and paying for genetic testing 18 . These barriers have also been discussed broadly in the context of genetic testing in both children and adults from a consumer perspective 21,23,43 . Efforts must be made to ensure health equity across socio‐economic groups when implementing pharmacogenomics so that patients aren't disadvantaged by prohibitive costs.…”

“…This will require co‐operation between insurance companies, institutions, and the government. The issue of payment may be less of a concern in countries where universal public healthcare includes genetic testing, such as France, Spain, and Israel 21 . However, genetic testing for autism spectrum disorders, as an example, remains underutilized in these countries despite low‐patient costs, 21 indicating that patient payment is not the sole barrier to implementation.…”

“… 18 These barriers have also been discussed broadly in the context of genetic testing in both children and adults from a consumer perspective. 21 , 23 , 43 Efforts must be made to ensure health equity across socio‐economic groups when implementing pharmacogenomics so that patients aren't disadvantaged by prohibitive costs. This will require co‐operation between insurance companies, institutions, and the government.…”

“…20 Similarly, a pediatric study of non-syndromic genetic testing in patients with an Autism diagnosis, surveying healthcare professionals, found more than 50% of respondents felt uncomfortable with the process for genetic testing authorization. 21 Lack of experience of healthcare professionals has been cited as a major challenge broadly across multiple sub-specialized fields of genetics implementation. 22 Despite the reported lack of experience among healthcare professionals and consumers, it was encouraging that those surveyed reported positive attitudes toward pharmacogenomic testing.…”