2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
| Estimating the prevalence of genetic testing among children who are deaf or hard of hearing using MarketScan claims data
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
Presentation:
3353554_15043SanaCharania.pdf
Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Sana Charania
(Primary Presenter), Centers for Disease Control and Prevention, yje9@cdc.gov;
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:
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AAA DISCLOSURE:
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Scott Grosse
(Co-Author), Centers for Disease Control and Prevention, SGrosse@cdc.gov;
Scott Grosse is a health economist with the National Center on Birth Defects and Developmental Disabilities.
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Kelly Dundon
(Author,Co-Author), Gentech Associates, kdundon@gentechassociates.com;
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. 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:
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No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
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No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
Stuart Shapira
(Co-Author), CDC, cos6@cdc.gov;
Stuart Shapira is a the associate director for science with the National Center on Birth Defects and Developmental Disabilities.
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AAA DISCLOSURE:
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