All Posts Conferences Newborn Screening and Genetics

Advocates work to expand newborn screening worldwide

One person speaks at a podium during the 2023 APHL/ISNS Newborn Screening Symposium while another panelist sits and listens.

By Melanie Padgett Powers, writer

Over the past 60 years, newborn screening has led to early diagnoses and treatments for millions of babies with genetic health conditions, saving and improving lives. However, the existence of newborn screening programs around the world is not equal.

Globally, nearly 40 million babies are screened annually, but that’s only about 28% of infants born every year, said James Bonham, MSc, PhD, CSci, FRCPath, president of the International Society for Neonatal Screening (ISNS) during the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, California, in October.

“There is much to celebrate after 60 years, but much to do after 60 years,” said Bonham, who led off the two-part half-day session, “The Development of Newborn Screening in Low- and Middle-Income Countries.”

While mortality rates for children under five have improved substantially over the past 20 years, death from birth defects for children under five has increased, now a cause of about 20% of the deaths in these young children, according to Bonham. That fact led the World Health Organization to convene an assembly in 2010 on birth defects, recognizing that primary prevention of childhood disease was going to be crucial to decrease infant mortality and under five mortality.

That goal “is really a platform for newborn screening, not just biochemical newborn screening as we see it now, but the wider concept of checking a baby out shortly after birth,” Bonham said.

In 2021, the International Federation of Clinical Chemistry and Laboratory Medicine, partnering with ISNS, created the Global Task Force on Newborn Screening, of which Bonham is co-chair. APHL is also involved in the efforts, which aim to help develop appropriate screening programs worldwide, including in low- and middle-income countries.

“I really do emphasize the word ‘appropriate,’” Bonham said. “We’re not inflicting high-tech programs on countries where that would make little practical benefit for the children. We’re finding out what is really needed and then attempting to support that.”

The task force established objective selection criteria to choose the countries to reach out to first. In early 2023, task force representatives visited the first three countries: South Africa, Dominican Republic and Romania.

Setting up screening in the Dominican Republic

In the Dominican Republic, newborn screening is only offered through private labs and occasionally through private insurance. There is no organizational support and no data on follow-up or the number of conditions discovered, said Van Leung-Pineda, PhD, DABCC, FAACC, director of clinical chemistry and clinical mass spectrometry at Children’s Healthcare of Atlanta. Leung-Pineda, who is originally from Panama, was part of the team that traveled to the Dominican Republic.

The Dominican Republic has a population of about 11 million people, with 170,000 to 200,000 births each year. It is designated as one of 20 countries in Latin America with mid to high revenues. However, it has an insufficient investment in public health, Leung-Pineda said.

The country had already achieved several steps along the way to create a national newborn screening program. Local leaders had completed a feasibility study and proposed starting with six disorders. Four maternity units were selected to start the program, and a media awareness campaign was launched. Primary goals were established, a site was selected to build a laboratory and clinical protocols for follow-up were developed, Leung-Pineda said. But all that came to a halt when the COVID-19 pandemic hit in 2020.

While the task force has lent its expertise and assistance, working with local champions and gaining federal support have been key to moving the program along, he said. A federal bill that had passed one of the two houses of Congress of the Dominican Republic in 2014 had expired. But since the task force’s visit in February 2023, local advocates were able to get a new bill introduced, which passed the Senate and is now awaiting review in the other house, the Chamber of Deputies. The health minister—with whom the task force met—has also received approval for funds from the World Bank. And the laboratory construction is underway.

Learning from a growing program in India

Lessons learned were also shared from a program already underway in the state of Kerala in India. Newborn screening began in Kerala with metabolic screening in 2012; hearing screening was added in 2014 and nurse screening of visible birth defects was added in 2016. In 2018, the Kerala program became the first in India to add universal pulse oximetry screening. That same year, all these programs were brought under the umbrella of a new newborn screening program  called Shalabham, which means “butterflies,” said Sreehari Madhavankutty Nair, PGD DN, PGD QM, MBA, medical officer in the Department of Health Services in Thiruvananthapuram, Kerala.

Because guidelines recommend women stay in the hospital after birth for 48 hours, the local newborn screening team focused on that time frame, Nair said. Visible birth defects are confirmed in the hospital within 24 hours, and pulse oximetry is confirmed in the hospital within 24-48 hours. Hearing results are sent to the nearest audiology center, while infant heel pricks are done within 48 hours and the dried blood spots are sent to a nearby laboratory.

However, the health department noticed there were several delays in the pipeline: Sometimes samples were kept too long in the hospital before being sent to the laboratory, while other times there was a delay in notifying the parents of results recommending they return for more testing.

Sample quality was another challenge, Nair said. Up to 12% of samples from some hospitals were rejected by the laboratory. New samples were needed, but when patients were recalled to collect a new sample, fewer than 20% returned to the hospital.

To improve the issues, the health department updated the processes and systems to reduce delays, retrained staff on procedures and the importance of timeliness, and added more nurses to the program.

These challenges were discovered due to the collection of appropriate data. The program developed an Android app that allows staff to easily capture and report data. “When we started looking at visible birth defect screening, there was around 150 different clinical conditions that were going to be screened by the nurses,” Nair explained. “It was really challenging for them to learn all these names with the correct spelling.” But the app now allows them to simply tap on an image of a child, in the appropriate area of the body, and various conditions and information pop up.

The app and its accompanying dashboard are “very useful for the program managers, to see how the system is moving, if there is a derailment that can be adjusted at the earliest point,” Nair said.

The team also updated its parent education, explaining in the hospital why the screening was so important and why it was important to return if notified. “Sometimes parents are not aware of why the sample is taken, and that is the reason why they don’t come back,” Nair said. Beyond that, the team updated the app to text parents when they need to return with their baby for follow-up. The app also texts results to the baby’s doctor, who can notify the parents directly.

Adopting appropriate technology for the community has been critical to the program, Nair said. Another key component has been establishing linkages with other systems in place and with the community nurses. “The processes should align with the existing health system,” he said. “Otherwise, it’s going to be an additional burden to the people who are managing it.”

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

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