Genetic 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 care.

中文翻译：

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筛查GJB2 -R143W 相关听力障碍：对加纳卫生政策和实践的影响

遗传因素显着增加了加纳听力障碍 (HI) 的负担，因为在健康的加纳人群中，连接蛋白 26 基因创始人变体 GJB2-R143W 的携带频率很高 (1.5%)。GJB2-R143W 突变占先天性非综合征 HI 分离家庭原因的近 26%。由于 HI 与高遗传适应性相关，这表明加纳可能会持续增加患有可遗传 HI 的个体数量。加纳有一项通用的新生儿听力筛查 (UNHS) 计划。但是，该计划不包括基因检测。增加针对人群、产前和新生儿阶段的 GJB2-R143W 突变基因检测可能会导致指导个人和夫妇的遗传咨询，早期发现高危婴儿的 HI，改善医疗管理，包括言语治疗和听力干预，以及提供必要的社会服务，以加强对 HI 儿童的养育和教育。根据已发表的关于加纳 HI 遗传学的研究，我们建议 UNHS 计划应包括对未通过初始 UNHS 测试的新生儿的 GJB2-R143W 基因变异的基因筛查。这将需要公共卫生基础设施的升级和资源配置，以实施快速且具有成本效益的 GJB2-R143W 检测，然后是适当的遗传和预期医疗保健指导。我们建议 UNHS 计划应包括对未通过初始 UNHS 测试的新生儿的 GJB2-R143W 基因变异的基因筛查。这将需要公共卫生基础设施的升级和资源配置，以实施快速且具有成本效益的 GJB2-R143W 检测，然后是适当的遗传和预期医疗保健指导。我们建议 UNHS 计划应包括对未通过初始 UNHS 测试的新生儿的 GJB2-R143W 基因变异的基因筛查。这将需要公共卫生基础设施的升级和资源配置，以实施快速且具有成本效益的 GJB2-R143W 检测，然后是适当的遗传和预期医疗保健指导。