Table 4.

Challenges to the integration of a genetic screening into the universal newborn hearing screen

Barrier	Impact	Proposed immediate step	Proposed long-term strategy
Expense	Prohibits incorporation into population-based screening	Implement a small screening panel capturing a limited number of targeted variants	More cost-effective sequencing technology; validation of targeted genetic panels in the US population
Variant interpretation	Requirement for expert variant interpretation prohibits population-based screening	Include only known pathogenic variants with automated variant interpretation	Improved understanding of variant effect on hearing and deafness through algorithmic approaches
Expressivity/penetrance	Limited understanding of permanent impact of some genetic variants can preclude confident interpretation of results	Include only variants with well-understood expressivity and penetrance	Continued evaluation of long-term consequence of genetic variants on hearing
Secondary and incidental findings	Identified genetic variants may cause other diseases and raise ethical dilemmas and uncertainty in interpretation	Limit to pathogenic variants known to cause deafness	Establish guidelines for handling incidental and secondary genetic variants in universal screening tests for deafness