Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting

• Published in: American journal of medical genetics. Part A Vol. 194; no. 4; pp. e63483 - n/a
• Main Authors: Schildt, Alison, Stevenson, David A., Yu, Linbo, Anguiano, Beatriz, Suarez, Carlos J.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-04-2024; Wiley Subscription Services, Inc
• Subjects: Diagnosis; Exome - genetics; Exome Sequencing; Genetic Testing - methods; Genomes; Humans; inpatient; Inpatients; Laboratories; quality improvement; Retrospective Studies; exome sequencing; inpatient; quality improvement
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.63483

Exome and genome sequencing are clinically available, with many laboratories offering expedited testing (e.g., “rapid” and “ultra‐rapid”). With the increase in uptake of expedited testing, there is a need for the development of inpatient protocols for best practices based on real‐life data. A retrospective 2‐year review (October 2019–November 2021) of the utilization of rapid exome and genome sequencing for inpatient cases at a tertiary care center using a utilization management tracking database with subsequent chart review was performed. Thirty‐three expedited “rapid/priority” exome/genome tests were performed clinically. The average total turnaround time (TAT) was 17.88 days (5–43 days) with an average TAT of 13.97 days (3–41 days) for the performing laboratory. There were 5 positive diagnostic results (15.2%), 3 likely positive diagnostic results (9%), 2 noncontributory results (6%), and 26 nondiagnostic results (69.7%). Real‐life data suggest that there is an approximately 3.91‐day lag in getting samples to the performing laboratory. Although laboratories may advertise their expected TAT, a number of factors can potentially impact the actual time from test order placement to communication of the results for clinical use. Understanding the points of delay will enable the development of internal protocols and policies to improve time to diagnosis.