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Newborn Screening for Deafness/Hard of Hearing in the Genomic Era
Anne B S Giersch1,2, Cynthia C Morton1,2,3,4
1Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
Insights
Newborn hearing screening can miss some cases of hearing loss. Genomic screening for all newborns offers a powerful opportunity to identify genetic causes of hearing impairment early for better intervention.
Area of Science:
- Genomics
- Audiology
- Neonatal Care
Background:
- Newborn hearing screening identifies infants who are deaf or hard of hearing (DHH) for early intervention.
- Current screening may miss mild or later-onset DHH, impacting development.
- Genetic testing aids in identifying the cause of DHH in infants who fail initial screening.
Purpose of the Study:
- To explore the potential of genomic technologies in newborn hearing screening.
- To advocate for the implementation of genomic screening for all newborns.
Main Methods:
- Review of current newborn hearing screening practices.
- Analysis of advancements in genomic technologies for diagnosing DHH.
- Discussion of the feasibility of population-wide genomic screening for hearing loss.
Main Results:
- Genomic technologies are enhancing the diagnosis of DHH in newborns.
- There is a growing argument for incorporating genomic screening into routine newborn care.
- Some genomic screening approaches are already in clinical use.
Conclusions:
- The genomic era presents significant opportunities for population-wide screening of genetic hearing loss.
- Early identification through genomic screening can facilitate timely intervention.
- Clinical implementation of genomic screening for newborns is advancing.
Background:
Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.
Content:
The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development. Genomic technologies are improving the diagnosis of DHH in newborns who fail their newborn hearing screen, and a case is being made for genomic screening for DHH in all newborns.
Summary:
The genomic era brings a wealth of opportunities to screen newborns for genetic causes of hearing loss on a population wide basis, some of which are already being implemented in a clinical setting.
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