Early Hearing Detection and Intervention (EHDI)
Many newborns with deafness are identified through screening shortly after birth. Timing of screening, follow-up testing and evaluation is important. The following is the recommended timeline:
- Before the baby is ONE month old - Hearing screening
- Before the baby is THREE months old - Full hearing test
- Before the baby is SIX months old - Early intervention evaluation
- Before the baby is NINE months old - Discuss referral to genetics
Considerations for a Genetics Referral for Deafness or a Hard of Hearing (DHH) Child:
- Newborn or children who failed Newborn Hearing Screening (NBHS)
- Newborn or children with a family history of deafness or hard of hearing (DHH) and/or with distinctive physical features such as ear malformations, pigment changes in hair or eyes, cardiac arrhythmias, and facial changes.
What is needed?
- Discuss referral to a geneticist.
- Consider working with the state/district Early Hearing Detection and Intervention Program (EHDI). coordinator to include genetics referral in the EHDI follow-up card.
- Consider using available DHH-genetics resources (included below).
- After failed newborn hearing screening or at the office visit when additional red flags such as family history and distinct clinical features are identified.
- 2-3/1000 children (about 4000 children/year) in the US are born with profound deafness.
- About half of all congenital deafness is caused by a genetic change.
- Early Genetics Assessment may…
- Provide a specific cause of deafness.
- Help guide treatment and personalized care management and reduce unnecessary testing.
- Discuss having a genetic test (usually a blood test) and address genetic counseling issue.
- Provide additional connections to specialists and support groups.
- CPT codes for connexin testing (GJB2 and GJB6 genes): 81252 and 81254.
- Consider a genetics consult for simultaneous testing for multiple genes (panel testing)
The genetics evaluation of a deaf or hard of hearing (DHH) child are best performed in stages (tiers) with high level of acceptance with third party payers and with families. General outline of a structured genetic evaluation includes:
- Stage 1: Medical Genetics, audiology, otolaryngology.
- Stage 2: Vestibular testing, ophthalmology, CT scan of the temporal bones, serology, urinalysis and serum creatinine.
- Stage3: Selected DNA tests based on the first 2 stages, electrocardiogram and electroretinogram (if clinically indicated).
Benefits of structured genetic evaluation of a DHH child include:
- Higher chances of getting a diagnosis.
- Easier overall practicality of obtaining the genetic tests.
- Better potential of timely intervention.
- ACMG ACT Sheet
- ACMG Algorithm
- ACMG Practice Guidelines
- Genetics of Early Childhood Hearing Loss
- AAP – What is medically necessary? Genetic testing and early childhood hearing loss
- Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss
- DHH-genetic testing resources
- National Center for Hearing Assessment and Management (NCHAM)
- An Action Guide for Providers Serving Children Who Have Hearing Loss – Region 4 Genetics Collaborative
- State/district EHDI coordinator
- Gene Reviews
- Resources in Genetics for EHDI Professionals