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

Int J Audiol. 2013 Feb;52(2):124-33. doi: 10.3109/14992027.2012.733424. Epub 2012 Nov 7.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • DNA Mutational Analysis*
  • Diffusion of Innovation
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Hearing Loss / diagnosis*
  • Hearing Loss / epidemiology
  • Hearing Loss / genetics*
  • Heredity
  • Humans
  • Infant, Newborn
  • Knowledge Bases
  • Neonatal Screening / methods*
  • Pedigree
  • Phenotype
  • Predictive Value of Tests
  • Pregnancy
  • Risk Assessment
  • Risk Factors