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This study describes the cost trajectory of the standard diagnostic care pathway for children with suspected genetic disorders in British Columbia, Canada.Average annual per-patient costs were estimated using medical records review and a caregiver survey for a cohort of 498 children referred to BC Children's and Women's Hospitals (CW) with unexplained intellectual disability (the TIDE-BC study) and families enrolled in the CAUSES study, which offered diagnostic genome-wide sequencing (GWS; exome and genome sequencing) to 500 families of children with suspected genetic disorders.Direct costs peaked in the first year of patients' diagnostic odyssey, with an average of C$2257 per patient (95% confidence interval [CI] C$2074, C$2441) for diagnostic testing and C$631 (95% CI C$543, C$727) for specialist consultations at CW. In subsequent years, direct costs accrued at a constant rate, with an estimated annual per-patient cost of C$511 (95% CI C$473, C$551) for diagnostic testing and C$334 (95% CI C$295, C$369) for consultations at CW. Travel costs and caregiver productivity loss associated with attending diagnosis-related physician appointments averaged C$1907/family/year.The continuing long-term accrual of costs by undiagnosed patients suggests that economic evaluations of diagnostic GWS services should use longer time horizons than have typically been used.

PURPOSE OF REVIEW This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children. RECENT FINDINGS With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age. Pinpointing the precise genetic cause is important, as it allows for accurate genetic counseling, avoidance of unnecessary testing, prognostication, and tailored management, which, for an increasing number of genetic conditions, targets the pathophysiology and improves outcomes. SUMMARY The etiology of intellectual developmental disorder is heterogeneous, which mandates a structured approach that considers family situation, test costs, yield, and potential therapeutic tractability of the identified condition. Diagnosis of an underlying genetic cause is increasingly important with the advent of new treatments. Still, in many cases, the cause remains unknown, and research is needed to elucidate its complex molecular basis.

Intellectual disability is a devastating condition affecting 2-3% of the global population; comorbidity is common. In addition to its lifelong impact on affected individuals, families and society as a whole, intellectual disability is associated with the highest healthcare costs of any disease. Inborn errors of metabolism constitute a group of rare genetic disorders that commonly manifest as an intellectual disability. For patients with these disorders, an increasing number of treatments are becoming available aimed at the pathophysiological mechanisms. A review of the literature identified 91 treatable inherited metabolic disorders; this was the basis for the development of a step-by-step diagnostic protocol and an app, Treatable-ID. A 2.5-year study in a tertiary setting treatable inborn errors of metabolism were identified as cause of intellectual disability in more than 5% of the children studied. It also showed that implementation of the diagnostic protocol reduced unnecessary costs and diagnostic delay. These results should motivate clinicians to aim diagnostic assessment of an individual with intellectual disability at treatable inborn errors of metabolism. Such an approach prevents brain damage, improves development and health and gives patients hope.