Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients

Genetics in Medicine(2022)

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摘要
The utility of inpatient rapid exome and genome sequencing has been well documented, but implementation continues to be hampered by inadequate insurance reimbursement, clinical genetics support availability, and high costs. Since late 2019, CS Mott Children’s Hospital at the University of Michigan has implemented a process through which critically ill pediatric patients can be evaluated with rapid comprehensive sequencing. After consideration of pre-determined criteria, each case is proposed by a consulting Pediatric Geneticist and then promptly evaluated by a multi-disciplinary committee (including Pediatric Geneticists, Cardiologist, Pediatric and Neonatal intensivists, and Neurologist).
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