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DOI: 10.1038/s41436-018-0075-8; PMCID: PMC6752301


PURPOSE: We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases.

METHODS: Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review.

RESULTS: Twenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene deletions, all diagnostic variants would have been detectable by our exome methods. Surprisingly, there was no documentation of communication of results to the family in the medical record for 17.5% of patients, and in 7.5%, physician and laboratory interpretations were discordant. Average insurance reimbursement was 30.2%, with yield for commercial payers significantly higher, at 54.1%.

CONCLUSIONS: The detection rate of GS is equivalent and potentially superior to exome sequencing (ES). Reimbursement rates were variable but overall satisfactory for commercial insurers, and poor for government entities. In addition, we identify opportunities for improvement in the communication of results to families, likely translatable to other tests and other institutions.

Journal Title

Genetics in medicine : official journal of the American College of Medical Genetics





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MeSH Keywords

Child; Cohort Studies; Diagnostic Tests, Routine; Electronic Health Records; Genetic Diseases, Inborn; Genetic Testing; Genome, Human; Humans; Insurance, Health, Reimbursement; Phenotype; Sequence Analysis, DNA; Whole Exome Sequencing


Clinical validation; Diagnostics; Genome sequencing; Insurance reimbursement; Next-generation sequencing


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