Next Generation Sequencing and Health Technology Assessment in Autism Spectrum Disorder

Next generation sequencing (NGS) is a new genome-based technology showing great promise in delineating the genetic basis of autism thus facilitating diagnosis and in the future, the selection of treatment. NGS can have a targeted use as well as provide clinically important findings from medically actionable variants regarding the risk of other disorders. As more is learned about the genomic basis of autism, the clinical utility of the risk information will increase. But at what cost? As the medical management that ensues from primary and secondary (incidental) findings grows, there will be increased pressure on sub-specialists with a longer and more circuitous pathway to care. This will result in higher costs to health care systems and to families. Health technology assessment is needed to measure the additional costs associated with NGS compared to standard care and to weigh these costs against additional health benefits. Well-designed data collection systems should be implemented early in clinical translation of this technology to enable assessment of clinical utility and cost-effectiveness and to generate high quality evidence to inform clinical and budget allocation decision-making.