Johan Prevot imagines a world where every newborn baby gets the best chance at a healthy life. That’s why he and other advocates are working around the globe to promote newborn screening – medical tests conducted at birth.
Two conditions – phenylketonuria (PKU) and congenital hypothyroidism – are now included in most national testing programs. But screening for other devastating conditions, including severe combined immunodeficiency (SCID), have not yet been adopted everywhere, according to the International Society for Neonatal Screening (ISNS). Without treatment, SCID is a fatal disorder. When caught quickly, SCID can be treated and even cured with a bone marrow transplant or gene therapy.
Adding SCID to a newborn screening program makes sense because it’s treatable, it saves lives and it meets longstanding, internationally accepted criteria for screening, called the Wilson and Jungner criteria, said Prevot, Executive Director of the International Patient Organisation for Primary Immunodeficiencies (IPOPI).
“It is absolutely transformative for the lives of these babies,” he said.” SCID is one of several hundred varieties of primary immunodeficiency diseases.
It took many years, but as of 2018, every state in the United States was testing for SCID. A decade ago, experts believed one in 100,000 newborns had SCID. Today, the estimate is one in 40,000, according to the Immune Deficiency Foundation, which successfully advocated for screening in all 50 states.
Saving lives seems an easy case to make but the campaigns for newborn testing around the world must be tailored to each geography, Prevot said. He and other proponents don’t go in with the intent to impose a list on a national program, he said. Instead they support decision-making for “equitable access to newborn screening for treatable rare diseases.” They engage multiple stakeholders, including patients, doctors, experts and communities, as they encourage policy change.
In Brazil, it took a grassroots campaign aided by celebrity attention to raise awareness and change policies. Amira Awada, Vice President of Instituto Vidas Raras, said their efforts eventually increased from six to 53 the number of conditions screened for at birth in Brazil.
In Europe, there are significant disparities of access to newborn screening between countries. But there’s potential for collaboration, data sharing, exchange of best practices and creation of an EU-wide platform that can support member states, Prevot said.
To promote newborn screening in Europe, IPOPI and two partners, the ISNS and the European Society for Immunodeficiencies, came together to form Screen4Rare. It aims to promote newborn screening that is appropriate, well organized and equitable, targeting “well-defined, treatable conditions where it is clear that early, asymptomatic detection and treatment during childhood results in significantly improved outcome,” Prevot said. That screening also must be voluntary and families must be informed.
Last year, the Screen4Rare partners also jointly supported the first-ever International Newborn Screening Day. The organizations plan to celebrate the day again this year on June 28, a date chosen to honor the birthday of Dr. Robert Guthrie, an American microbiologist considered the father of newborn screening. All interested stakeholders are invited to join in the 2022 celebration, Prevot said.
In the 1950s, Guthrie developed a newborn test for PKU, a disorder that can cause intellectual disabilities. If caught early, PKU can be treated with a special diet, avoiding the attack on intellectual development. Still today, the blood tests done at birth are called “Guthrie tests” and the cards they’re recorded on are called “Guthrie cards.”