Development of in-house genetic screening for pediatric hearing loss. Laryngoscope Investig Otolaryngol 2020 Jun;5(3):497-505
Date
07/01/2020Pubmed ID
32596493Pubmed Central ID
PMC7314470DOI
10.1002/lio2.379Scopus ID
2-s2.0-85113994653 (requires institutional sign-in at Scopus site) 1 CitationAbstract
OBJECTIVES: To evaluate the efficiency of in-house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL).
METHODS: Retrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing loss who underwent either send out vs in-house genetic testing for mutations in GJB2/GJB6, SLC26A4, and MTRNR1. Primary outcome measure was the difference in mean turnaround time for send-out vs in-house genetic testing. Additional outcomes included associations between audiometric findings and genetic test results.
RESULTS: One hundred four send-out tests were performed between October 2010 and June 2014, and 100 in-house tests were performed between November 2014 and November 2016. The mean turnaround time for send-out testing was 53.7 days. The mean turnaround time for in-house testing was 18.9 days. This difference was statistically significant (P < .001). The largest component of turnaround time was the amount of time elapsed between receipt of specimen in the lab and final test result. These intervals were 47.0 and 18.3 days for send-out and in-house tests, respectively. Notably, the longest turnaround time for in-house testing (43 days) was less than the average turnaround time for send-out testing. In addition, we identified two simple audiometric parameters (ie, bilateral newborn hearing screen referral and audiometry showing symmetric SNHL) that may increase diagnostic yield of genetic testing.
CONCLUSIONS: The development of in-house genetic testing programs for inherited SNHL can significantly reduce testing turnaround times. Newborn hearing screening and audiometry results can help clinicians identify patients most likely to benefit from genetic testing.
LEVEL OF EVIDENCE: IV.
Author List
Doerfer KW, Sander T, Konduri GG, Friedland DR, Kerschner JE, Runge CLAuthors
Karl W. Doerfer MD Assistant Professor in the Otolaryngology department at Medical College of WisconsinDavid R. Friedland MD Associate Director, Director, Chief, Professor in the Otolaryngology department at Medical College of Wisconsin
Girija Ganesh Konduri MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Christina Runge PhD Associate Provost, Chief, Professor in the Otolaryngology department at Medical College of Wisconsin
