Reasons for refusal of genetic testing in the evaluation of autism spectrum disorder and intellectual developmental disorder with longitudinal follow-up on test completion.

PURPOSE: Autism and Intellectual and Developmental Disorder (IDD) are neurodevelopmental conditions influenced by genetic factors. Health organizations recommend genetic testing as part of medical care for individuals diagnosed with autism and IDD. Genetic etiologies can improve counseling accuracy and refine patient treatment, but despite the benefits, studies show that patients often decline clinically offered testing.

METHODS

We analyzed data from 7539 health records of autistic individuals with IDD and identified 111 instances with documented refusal of genetic testing (GT). Then, we rechecked the charts with previously documented refusal 4 years later for subsequent acceptance.

RESULTS

Reasons for refusal were "access issues" (46.8%) predominantly related to "insurance/cost," "personal concerns" (21.6%) regarding "procedure" or "no interest," and "deferred" (19.8%); some refusals were "not specified" (13.5%). Of those individuals who initially declined genetic testing, 29 (26.1%) obtained testing upon follow-up review; the initial reason for refusal was not predictive of later completion of tests.

CONCLUSION

These findings indicate a need to address external barriers, such as cost and insurance. Reducing discomfort and increasing accessibility to information regarding autism/IDD GT benefits, importance, and alternative DNA collection methods could also increase awareness, interest, and access to testing. Longitudinal results indicate that providers should follow up on GT for all autism/IDD patients who decline it.