Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghana

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dc.contributor.authorAdadey, Samuel M.
dc.contributor.authorQuaye, Osbourne
dc.contributor.authorAmedofu, Geoffrey K.
dc.date.accessioned2023-04-26T13:46:50Z
dc.date.available2023-04-26T13:46:50Z
dc.date.issued2020-12-10
dc.description.abstractGenetic factors significantly contribute to the burden of hearing impairment (HI) in Ghana as there is a high carrier frequency (1.5%) of the connexin 26 gene founder variant GJB2-R143W in the healthy Ghanaian population. GJB2-R143W mutation accounts for nearly 26% of causes in families segregating congenital non-syndromic HI. With HI associated with high genetic fitness, this indicates that Ghana will likely sustain an increase in the number of individuals living with inheritable HI. There is a universal newborn hearing screening (UNHS) program in Ghana. However, this program does not include genetic testing. Adding genetic testing of GJB2-R143W mutation for the population, prenatal and neonatal stages may lead to guiding genetic counseling for individual and couples, early detection of HI for at-risk infants, and improvement of medical management, including speech therapy and audiologic intervention, as well as provision of the needed social service to enhance parenting and education for children with HI. Based on published research on the genetics of HI in Ghana, we recommend that the UNHS program should include genetic screening for the GJB2-R143W gene variant for newborns who did not pass the initial UNHS tests. This will require an upgrade and resourcing of public health infrastructures to implement the rapid and cost-effective GJB2-R143W testing, followed by appropriate genetic and anticipatory guidance for medical careen_US
dc.description.sponsorshipACE: Cell Biology of Infectious and Non-Communicable Diseasesen_US
dc.identifier.issn1662-4246
dc.identifier.issn1662-8063
dc.identifier.urihttp://hdl.handle.net/123456789/1568
dc.language.isoenen_US
dc.publisherS. Karger AG, Baselen_US
dc.relation.ispartofseriesPublic Health Genomics;2020;23
dc.subjectGordon A. Awandareen_US
dc.subjectAmbroise Wonkamen_US
dc.subjectUniversity of Ghanaen_US
dc.subjectWACCBIP_NCDSen_US
dc.subjectHealth policyen_US
dc.subjectGJB2-R143W founder mutationen_US
dc.subjectHearing impairmenten_US
dc.subjectNewborn screeningen_US
dc.subjectGhanaen_US
dc.titleScreening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghanaen_US
dc.typeArticleen_US
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