Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Feb;52(2):124-33.
doi: 10.3109/14992027.2012.733424. Epub 2012 Nov 7.

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

Luan Linden Phillips  1 , Maria Bitner-Glindzicz, Nicholas Lench, Karen P Steel, Cordelia Langford, Sally J Dawson, Adrian Davis, Sue Simpson, Claire Packer
Affiliations
Free PMC article
Review

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

Luan Linden Phillips et al. Int J Audiol. 2013 Feb.
Free PMC article

Abstract

Objective: To explore the future potential of genetic screening to detect newborns at risk of childhood-onset hearing loss.

Design: An expert led discussion of current and future developments in genetic technology and the knowledge base of genetic hearing loss to determine the viability of genetic screening and the implications for screening policy.

Results and discussion: Despite increasing pressure to adopt genetic technologies, a major barrier for genetic screening in hearing loss is the uncertain clinical significance of the identified mutations and their interactions. Only when a reliable estimate of the future risk of hearing loss can be made at a reasonable cost, will genetic screening become viable. Given the speed of technological advancement this may be within the next 10 years. Decision-makers should start to consider how genetic screening could augment current screening programmes as well as the associated data processing and storage requirements.

Conclusion: In the interim, we suggest that decision makers consider the benefits of (1) genetically testing all newborns and children with hearing loss, to determine aetiology and to increase knowledge of the genetic causes of hearing loss, and (2) consider screening pregnant women for the m.1555A> G mutation to reduce the risk of aminoglycoside antibiotic-associated hearing loss.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Timeline of developments in genetic screening for hearing loss.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Abe S., Yamaguchi T., Usami S-I. Application of deafness diagnostic screening panel based on deafness mutation/gene database using Invader Assay. Genet Test. 2007;11:333–340. - PubMed
    1. Andermann A., Blancquaert I., Beauchamp S., Costea I. Guiding policy decisions for genetic screening: Developing a systematic and transparent approach. Public Health Genomics. 2011;14:9–16. - PubMed
    1. Bamford J., Fortnum H., Bristow K., Smith J., Vamvakas G., et al. Current practice, accuracy, effectiveness, and cost effectiveness of the school entry hearing screen. Health Technol Assess. 2007;11((32)):1–168. - PubMed
    1. Biesecker L.G. Exome sequencing makes medical genomics a reality. Nat Genet. 2010;42:13–14. - PubMed
    1. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull. 2002;63:73–94. - PubMed

Publication types