Real Stories: How Otogenetics’ Carrier Screening Changes Lives

Real Stories: How Otogenetics’ Carrier Screening Changes Lives
(*Patient names have been changed to protect privacy*)

The new Carrier Screening standard set by Otogenetics helps Newborn Screening for Early Intervention

Hearing loss is the most common congenital condition, more than all other common congenital conditions combined. Sarah and Mark knew the challenges of congenital hearing loss—thire first child failed newborn hearing screening and had already been through multiple tests with no avail of the cause(s). Before their second child, Emily, was born, they underwent Otogenetics’ GxVISION carrier screening and learned they were both carriers for GJB2, the most common deafness gene. The carrier screening results revealed what could have caused deafness in their first child and a followup test with Otogenetics of the child confirmed the genetic cause. When Emily was born, testing confirmed she had also inherited the mutations from both parents, which accounts for her failure in newborn hearing screening, relieved the family from multiple hospital visits and tests that may not give them definitive answers.

With early detection Sarah and Mark were able to connect with an audiologist immediately, ensuring Emily had access to early intervention services prelingually that is critical for her speech and language development.

Carrier Screening Uncovers Hidden Risks

Lena had no family history of hearing loss, but when she and her partner underwent genetic screening, they discovered critical information: Lena was a GJB2 carrier, and her partner had two known pathogenic mutations. This meant their child had up to a 50% chance of inheriting hearing loss.

With this knowledge, they planned for newborn hearing screening and postnatal audiology assessments. Knowing what to expect gave them peace of mind and helped them prepare for the possibility of early intervention if needed.

Closing the Gaps in Carrier Screening for Precision Care of Families

Otogenetics is committed to advancing prenatal and newborn genetic testing, ensuring that families and providers have access to the most comprehensive and actionable genetic insights available. Otogenetics Carrier screening includes options that are critical for the common congenital conditions, such as GJB2-linked hearing loss, to benefit the patients. Early, actionable genetic insights allow parents and healthcare providers to collaborate on personalized care plans, ensuring the best possible outcomes for newborns.
With cutting-edge genetic screening, families like Sarah’s and Lena’s can move forward with confidence—knowing they have the knowledge, resources, and support they need.
To learn more about how Otogenetics’ advanced GxVISION carrier screening (and comprehensive congenital hearing loss test) can support your family, talk to your doctor or visit www.otogenetics.com.