By Melanie Padgett Powers, writer
Every year in the US, nearly 4 million babies receive newborn screening for a variety of health conditions within the first 24–48 hours of birth. Newborn screening was developed almost 60 years ago on the basis of equality—screening all babies for the same conditions.
However, public health professionals recognize that disparities exist across the newborn screening system. A panel of experts outlined these disparities and recommended actions that public health laboratories can take to improve the system, during the 2022 APHL Annual Conference May 18 session, “Exploring Equity Across the Newborn Screening System: From Discourse to Action.”
Newborn screening is “an interesting use case because newborn screening has historically been heralded as this universal program, a great equalizer among diagnoses for rare congenital diseases in newborns,” said Amy Gaviglio, MS, CGC, a genetic consultant based in Minneapolis.
The most obvious disparity, Gaviglio said, is the differences in conditions screened for from state to state, despite what is recommended by the US Recommended Uniform Screening Panel (RUSP). She said the RUSP did a great job at level-setting the panels in 2009—with all programs screening for at least 20 of the core conditions. However, as the complexity of diseases has grown, so have the disparities.
Gaviglio outlined three problem areas within newborn screening programs at public health laboratories:
- Lack of tiered testing. Using tiered testing can reduce referral rates, which can improve follow-up screening and diagnosis.
- Programs vary in their incorporation of molecular technologies. Use of such technology can reduce the lack of access to genetic testing that some groups face, including Hispanic people, uninsured people, non-citizens and people with lower education levels.
- All babies may not be screened in the best possible way. This is often discussed in relation to cystic fibrosis, which often uses a CFTR variant panel, which was created using white individuals.
The APHL NewSTEPs data showed that time to diagnosis and to intervention for cystic fibrosis was longer for Black and African American babies than for Asian and white babies, according to Gaviglio. The program also studied hemoglobinopathies such as sickle cell disease, which largely affect Black and African American people.
“Despite this condition being considered more of an African American condition, there was no real statistical difference in time to diagnosis or time to intervention,” Gaviglio said. “What was important with this work … was to indicate that the universality of newborn screening really does fall short when we call results out. These babies and these families succumb to the disparities in our health care system, and this is an area we’re going to have to focus on to make sure all of our babies are receiving similar care post-newborn screening.”
Involving families at every step
It’s important to recognize that different groups have varying access to resources, skill sets and opportunities to get their condition and causes “on the radar,” said Natasha Bonhomme, founder of Expecting Health and director of Baby’s First Test, the nation’s newborn screening resource center.
When it comes to educating communities about newborn screening and various conditions in recent years, the public health community has done better in providing materials in multiple languages, listening to feedback to inform new projects, using images that reflect the community and considering rural versus urban issues, Bonhomme said.
However, she said, the areas in which public health must improve include taking into account different learning styles; creating a consistency in language, terminology and descriptions; acknowledging people’s health care experiences; and considering an individual’s hierarchy of needs.
A person’s hierarchy of needs, Bonhomme said is “where there’s all these ‘nice to haves’ and things we wish people would understand are important, but we also need to listen to families who say: ‘I know that’s important, but I need this to get through today, to get through this week.’”
That’s a different starting-off point and must be incorporated as we educate people about the importance of public health issues, Bonhomme said.
In the advocacy arena, the newborn screening community has improved in addressing learning opportunities, sharing stories and perspectives, and informing policy and sharing across groups. However, the newborn screening system needs to build an infrastructure for policy and developing long-term data, while also expanding partnerships and providing more leadership opportunities, she said. It’s critical that the newborn screening system keeps families central and continually asks for their input.
Bonhomme said she often hears from families who say: “I went to a conference and I told my story and people cried or said ‘you’re so strong,’ and ‘that’s amazing,’ and then I never heard from them again. I want to help.”
She ended her presentation with a quote: “Equality is giving everyone a shoe. Equity is giving everyone a shoe that fits.”
“There are a lot of barriers,” Bonhomme said. “We work in a lot of systems that are not flexible, but what can we do, bit by bit, day by day, to get to that shoe that actually fits?”
Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.
