As genetic and genomic sequencing become incorporated into newborn screening for hearing loss, patients may look to obstetricians for guidance on genetic testing decisions.

Auditory screening of newborns, mandated by most states in recent decades, now reaches an estimated 98 percent of newborns in the United States and has significantly reduced the average age for identifying congenital deafness. But adding genetic testing could drive more accurate diagnosis and personalized management during infancy’s critical window when the brain’s speech and language center is developing rapidly.

To this end, medical geneticist Cynthia Morton, PhD, director of cytogenetics at Brigham and Women’s Hospital, has launched SEQaBOO (SEQuencing a Baby for an Optimal Outcome). This first-of-its kind study is offering genome sequencing for trios (Mom, Dad and newborn) when the newborn does not pass newborn hearing screening. The goals of SEQaBOO include learning how genomics will be received by parents and its potential as a new frontier in personalized medicine for hearing loss. Knowing the cause of a child’s deafness can help to direct the most appropriate interventions, such as hearing aids, cochlear implants or sign language instruction.


CC0 Creative Commons Pixabay

Read more…