Abstract
To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017-2022) of genetic testing sent by the neurology department in Children's Health Ireland, Crumlin, was calculated using the local testing cost directory and converted to USD based on the relevant exchange rate. We calculated the indirect clinical costs based on previously reported time estimates. This included an estimate for face-to-face patient-related activity and additional patient-related activity. We explored the challenges raised from the data. Eight hundred and twenty-three genetic tests were requested on 541 patients over the 5-year study period by 2.5 neurology consultants full-time equivalents (FTE). The total direct cost of testing was $802,278 over the 5-year period ($160,462.68 per annum). For indirect costing, the estimate of 45 min per person for face-to-face-related testing activities took the neurology consultants 617.25 h to obtain consent and deliver results, which equates to 16.6 weeks of consultant clinical time during the study period. With regard to indirect time, an additional 3 h of patient-related activity equates to 43.9 working weeks over the study period. We estimate a potential saving of $217,127.8 if these duties were provided by a genetic counselor rather than a consultant. The addition of a genetic counselor would significantly free up neurology consultant time as the estimated activity of the patient-facing activity and patient-related activity equals an estimated 60.6 consultant work weeks over the 5-year study period. New genetic and genomic testing modalities have led to massive improvements in diagnostic rates in neurology conditions. While we had anticipated that our study would demonstrate significant direct costs, we had not expected such substantial indirect (time associated) costs associated with genetic testing. This study highlights the benefit of additional subspecialty genetic counselors to support care in mainstream genetic testing.