One of the great successes of public health in the US is the newborn screening program, which tests infants in every state for more than 30 serious but treatable congenital diseases. For the four million US babies born each year, most states report parent and caregiver screening participation rates of 99% or higher, according to the National Institutes of Health (NIH).
Yet obstacles emerge for infants who do not pass newborn screening. Public health leaders and clinicians struggle to ensure that families complete additional testing required for a diagnosis. They also face challenges in supporting families during the diagnosis and beyond.
Hearing loss and deafness offer a useful example of best practices to address these challenges. The recent Early Hearing Detection & Intervention Conference (EHDI) showcased innovative solutions in four essential areas:
- For public health leaders, ensuring that families comply with recommended follow-up
- For clinicians, communicating diagnoses effectively
- For clinicians, incorporating genetic testing in diagnoses
- For families, helping their child develop an identity integrating their condition.
Newborn screening typically occurs within the first 24 to 48 hours after birth. Babies undergo blood spot testing for conditions from spinal muscular atrophy to cystic fibrosis to sickle cell disease, among many others. The screening also includes special testing for congenital hearing loss and critical heart defects, explains the Center for Disease Control (CDC). About one in 300 infants, according to the NIH, eventually receive a diagnosis.
I’d like to acknowledge that I am a person with a severe, genetic hearing loss, diagnosed as a child. It’s also important to note that not all families with an infant diagnosed with a treatable condition wish to seek treatment. In the case of hearing loss and deafness, some members of the Deaf community believe that deafness is a personal attribute, not a disease to be cured.
1. For public health, ensure that families comply with recommended follow-up
For many of the conditions detected by newborn screening, parents and caregivers are caught unawares. Symptoms of the baby’s disease may not be present at birth. The disease may have been passed on as a recessive condition for generations, creating only a faint glimmer of a family history. That’s certainly true with hearing loss, where more than 95% of children diagnosed with hearing loss at birth are born to hearing parents, according to a study.
As a result, when babies fail newborn screening, parents’ shock, confusion, and even denial complicates their ability to comply with recommended next steps.
For possible hearing loss, parents need to seek a diagnosis by a pediatric audiologist. Yet in 2022, 45% of babies who failed newborn hearing screening did not receive a documented diagnosis, up from 36% in 2018, per CDC data. Many parents and caregivers become what the system calls “lost,” unresponsive to outreach or lacking valid contact information.
Enter the Utah EHDI team who in 2023 reduced the number of lost babies, out of over 45,000 state births that year, to a staggeringly low number of one. Yes, just one family was unable to be reached.
The team’s secret weapon is Holley Ezzell, mother to a deaf son and a former Deputy Sheriff, who serves as the state’s EHDI follow-up coordinator. At a packed session at the 2025 EHDI Conference, Ezzell described how she tracks every single family in Utah who requires follow-up hearing testing. “I play detective,” she announced.
Ezzell and her colleagues have built partnerships with local health departments, health clinics, early intervention providers, and midwives across the state. They established seven tele-audiology sites equipped to perform the specialized auditory brainstem response test for diagnosing infants with hearing loss.
Utah EHDI also has created a home birth screening project, crisscrossing the state to deliver otoacoustic emissions screening units to midwives. “Before they get that equipment, midwives have to undergo an hour of virtual training,” Ezzell explained. The midwife agrees to screen their newborn patients and any babies referred to them.
Ezzell also described the beautiful mechanics of her follow-up system, which would benefit any health organization conducting outreach. She begins with a phone call, asking to speak to the mother by first name. If no one answers, Ezzell leaves a generic voicemail and then follows up with a text message. She often proceeds to text with the parent about the importance of hearing screening and follow up.
Ezzell explained that part of her success stems from the fact that Utah’s state EHDI rules allow her to contact parents via text. Yet clearly her organization, creativity, and passion for finding lost families also drives a significant part of her incredible results.
2. For clinicians, communicate diagnoses effectively
When parents arrive at an appointment for follow-up and diagnostic testing, even though it can occur weeks to months following newborn screening, they may still be feeling confused or afraid. Definitive news about their child’s condition may pierce their hopes, resulting in grief or shock. Communicating a diagnosis in this situation requires considerable forethought and a delicate touch.
I will never forget the story my mother told me about how she and my father learned about my hearing loss when I was six. That night, after putting my younger sisters and me to bed, they sat on the couch, stunned and unable to move. I sometimes think of them there, immobile on the couch weighed down by a future they had never imagined.
In an EHDI Conference session called “How Do I Tell Them Their Child is Deaf?”, Christina Payne described how heartbroken she was after receiving her daughter’s diagnosis of deafness. When Payne left the audiologist office, she did not understand the severity of her daughter’s hearing loss — the audiologist’s use of decibels only confused her — nor the long-term prognosis.
“I’m musical,” Payne explained. “And the whole time I was driving home, I kept on wondering about my daughter. Did she ever hear the lullabies I sang to her?”
Today, Payne is the director of the West Virginia chapter of Hands & Voices, a national advocacy group for parents and caregivers of children with hearing loss and deafness. Her daughter is thriving. During Payne’s session, she provided a list of recommendations on how to communicate the diagnosis to parents, relevant to any congenital disease.
Explain everything, Payne instructed. Provide information on the diagnosis in writing (since it’s hard to remember), and offer literature on next steps. “Engage families in a straightforward, positive manner,” she advised. She also recommended that clinicians communicate with “understanding and empathy, not pity.”
3. For clinicians, incorporate genetic testing in diagnoses
Recently, diagnosis has become even more complex because clinicians may need to include genetic testing, which helps determine whether children are indicated for treatment with gene therapy. Some examples of gene therapies for congenital diseases tested in newborn screening include treatments for sickle cell disease, Duchenne muscular dystrophy, and spinal muscular atrophy, per Boston Children’s Hospital.
In the world of hearing loss, several companies around the globe are conducting gene therapy clinical trials for a rare form of pediatric deafness due to mutations in the otoferlin gene.
Even if an approved gene therapy is unavailable for a congenital disease, a genetic diagnosis may assist clinicians in managing the disease. For a hearing loss diagnosis, for example, identifying the genetic mutation can predict progression, useful information for audiologists and support teams at school. In my case, my Connexin-26 mutation has caused my hearing abilities to steadily degrade in the decades since I was diagnosed as a child.
Yet currently, the majority of parents have never heard of gene therapy and may have only a hazy understanding of genetic testing, according to my company’s research. Educating parents on the benefits of genetic testing is essential for increasing its prevalence.
Genetic diagnoses can greatly aid families of babies diagnosed with hearing loss, instructed Terri Urban, Vice Chair, and Alicia Rodgriguez, Co-Chair of the Hands & Voices Virginia chapter. In their EHDI Conference session called “Two Families. Two Genetic Syndromes. One Bond,” the duo described how a genetic diagnosis was an integral part of their child’s experience after failing newborn hearing screening.
Urban and Rodriguez enumerated a panoply of benefits for families of genetic testing. Help with family planning, preparation for the future based on expected progression, and behavior modification — Rodriguez’s family doesn’t fly since changes in air pressure could worsen her son’s hearing loss from Pendred’s syndrome — all made the list.
The presenters also surfaced the advantage of sibling support, not often found in discussions of genetic testing benefits. In both families, siblings asked about the impact of hearing loss in their own lives. Could deafness someday surface for their own children? A genetic test for each of the siblings revealed that none were carriers, removing a potential concern from the family’s roster of worries.
4. For families, help their child develop an identity integrating their condition
Once screening, diagnosis, and genetic testing are complete, once parents and caregivers have made decisions on interventions, and once clinicians have administered treatment, it is up to the children to forge an identity.
Every congenital disease presents its own complications that may impact the child’s self-conception. Hearing loss, for example, is not life-threatening. However, children who wear cochlear implants or hearing aids need to contend with how they integrate these external and often visible devices into their identity. After I received my first hearing aid in junior high, I was convinced that I was the only person in the entire school – including the teachers, administrators, and janitors – who wore a hearing aid.
Dr. Michael Hoffman, diagnosed with Connexin-26 as a child, describes a similar experience being the only member of his elementary school class with hearing aids. Now a PhD and pediatric psychologist at the Children’s University of Philadelphia, Hoffman presented a mesmerizing closing plenary at the 2025 EHDI Conference on “Supporting Early Deaf Identity Development.”
Children first perceive that others may be looking at them differently by age four, Hoffman explained. Quite early on, deaf and hard-of-hearing children need to contend with their identity. I very much resonated with Hoffman’s description of identity as “not a static concept but a complex ongoing quest for belonging, a quest that is bound up with acceptance of being deaf while ‘finding one’s voice’ in a hearing-dominant society,” from an academic study.
Parents and caregivers, Hoffman advised, play a crucial role in supporting the child in this quest. He laid out a number of useful guiding principles. Three of my favorites:
- Recognize that if your child is old enough to ask the question, they are old enough to get the answer
- Don’t apologize for your child’s hearing loss
- Explore vivid colors and decorative bling for hearing aids or cochlear implants as a means of self-expression.
I wish that my parents would have had the benefit of someone like Hoffman to coach them on how to support me. Even though I graduated from Ivy League schools at the top of my class while wearing hearing aids, even though I run a successful company in hearing healthcare, I often get the sense that when my parents look at me, the first thing that comes to mind is my hearing loss.
I resolved after Hoffman’s inspiring presentation never to apologize for my hearing loss again.
Collectively, the sessions at the EHDI Conference provided me with new insight and inspiration on diagnosis and its aftermath of congenital hearing loss. The conference lessons apply more broadly to congenital diseases identified by newborn hearing screening.
Specific recommendations on how to form partnerships to maximize follow up when babies fail newborn screening, how to present comprehensive facts with a straightforward presentation when communicating a congenital diagnosis, the significant benefits of genetic testing during diagnosis, including peace of mind for the baby’s siblings, and the importance of transparency and joy in helping children incorporate a congenital disease into their identity all offer valuable lessons for public health officials, clinicians, and families.
Photo by Flickr user Katie Tegtmeye
A strategic advisor and thought-leader on transforming hearing healthcare, Nancy M. Williams is founder and president of Auditory Insight. Ms. Williams partners with senior executives of pharma and device companies to develop successful commercialization strategies in hearing healthcare. She also advises growth equity and private equity firms to create portfolio value in hearing healthcare. Her clients span all sectors of hearing healthcare, from hearing aids to tinnitus treatments to drug and gene therapies. Ms. Williams leverages her deep insight into consumer needs and experience, practical understanding of clinical behaviors of audiologists and ENTs, and unique viewpoints on how hearing healthcare is evolving. Personally informing her work is her genetic hearing loss. She holds an MBA from Harvard Business School and a BA from Stanford University in Quantitative Economics, both with distinction.
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