2022 Early Hearing Detection & Intervention Virtual Conference
March 13 - 15, 2022
Estimating the prevalence of genetic testing among children who are deaf or hard of hearing using MarketScan claims data
Genetic testing for children who are deaf or hard of hearing (D/HH) may provide insight in determining the etiology, familial recurrence risk, and prognosis of hearing loss and optimize management of the condition. The Joint Committee on Infant Hearing (JCIH) recommends that infants who are confirmed as D/HH are referred for genetics evaluation. We used data from the IBM MarketScan Commercial claims database for two 3-year time periods, 2014-2016 and 2017-2019. For each time period, we examined children identified as D/HH who were aged 0-3 years and continuously enrolled for at least the first year in an employer-sponsored health plan. We defined children as D/HH based on the presence of three or more claims on separate dates with an ICD-9 or ICD-10 diagnosis code for hearing loss. We identified claims associated with any type of cytogenetic or molecular genetic testing (e.g., karyotyping, chromosomal microarray, and tests for DNA variants in genes known to be specific to hearing loss). Among children in our cohort (2.2-2.3 per 1,000 enrolled children), 12% received genetic testing during 2014-2016, based on the presence of applicable CPT procedure codes, and 14% during 2017-2019. In comparison, 0.7% and 0.8% of children without a hearing loss code (99% of children) had genetic tests in the first and second periods. Children identified as D/HH who had claims for amplification (hearing aids or cochlear implants) had almost twice the frequency of genetic testing relative to other children identified as D/HH, 15% vs 8% in 2014-2016 and 16% vs 9% in 2017-2019. This analysis of children identified as D/HH indicates a frequency of genetic testing among children identified as D/HH that is elevated relative to other children but low relative to JCIH guidelines. These findings suggest a need to increase genetic testing among children who are D/HH.
- To estimate the prevalence of genetic testing among insured young children who are deaf of hard of hearing compared to children not identified as deaf or hard of hearing
- To compare the prevalence of genetic testing among subgroups of children who are deaf or hard of hearing
- To understand the role of genetic testing as a component of audiological diagnostic follow-up for children who are deaf or hard of hearing
Poster:
3353554_15043SanaCharania.pdf
Presenter: Sana Charania
Sana Charania is an epidemiologist with the EHDI team at the Centers for Disease Control and Prevention. Sana works to support a wide range of analytic and epidemiologic research projects, including analyses using national surveys, community based studies and individual level data. Sana has a B.A. in Anthropology and Global Health from Emory University, and MPH in Global Epidemiology from Emory University’s Rollins School of Public Health.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exist.
Nonfinancial -
No relevant nonfinancial relationship exist.
Scott Grosse is a health economist with the National Center on Birth Defects and Developmental Disabilities.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
Kelly Dundon is a contractor with the CDC EHDI program. Prior to the CDC, Kelly was the state EHDI Coordinator for Georgia and was with the Georgia Department of Public Health for over 6 years. While at the Georgia Department of Public Health, Kelly oversaw initiatives that reduced Georgia’s loss to follow up rate in half and improved timeliness of diagnosis of infants not passing their newborn hearing screen. She also planned, executed, and oversaw a long term follow up study on children identified through EHDI. Kelly holds her Doctorate in Audiology and Masters in Public Health. Additionally, she is a board member of Georgia’s Hands & Voices Chapter and works as a pediatric audiologist at Children’s Healthcare of Atlanta.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
Stuart Shapira is a the associate director for science with the National Center on Birth Defects and Developmental Disabilities.
ASHA DISCLOSURE:
Financial -
Nonfinancial -