Abstract:
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 pro gram 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 re search 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 ca
