2024-11-01 05:00:00
A midwife has just performed a Guthrie test, which must be done on the third day of the baby’s life, at the Chambéry maternity ward, January 2, 2018. JESSICA BORDEAU / JESSICA BORDEAU / IMAGE POINT FR / BSIP
Patient associations, doctors and researchers have been calling for it for more than ten years. Neonatal screening for sickle cell disease is finally a reality. From November 1, all newborns will benefit from it as part of the national neonatal screening program, which systematically searched for twelve diseases, including cystic fibrosis, congenital hypothyroidism and leucinosis (also called “maple syrup-smelling urine disease”). This screening, also called the “Guthrie test”, is carried out by taking drops of blood on a blotting paper, after a small prick on the newborn’s heel or hand.
Sickle cell anemia is an anemia of genetic origin which particularly affects populations originating from sub-Saharan Africa, the West Indies, North America, India, the Mediterranean region and the Middle East. Hence screening initially targeted at these audiences. Since 1984, it has been generalized to overseas departments and regions. In mainland France, since 1995, ethnic targeting targeted West Indian, African and Mediterranean populations, and was regularly denounced by patient associations as being stigmatizing.
Finally, some maternity wards did it, others did not. In Ile-de-France, where the prevalence is particularly high, because the populations at risk are concentrated there, more than 75% of newborns are screened. In November 2022, the High Authority for Health recommended generalize this screening to all newborns. A decree was published on August 3.
Also read (2022) | Article reserved for our subscribers Sickle cell disease, the most common genetic disease among those detected at birth, will soon be screened in all newborns
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A hereditary genetic blood disease affecting red blood cells, sickle cell disease manifests itself a few months after birth, notably through significant anemia, episodes of intense bone pain linked to blood vessel occlusion and a high risk of infections (pneumonia, meningitis). …). It is the leading cause of stroke in children and young adults.
“Genetic counseling”
Above all, among all the diseases systematically screened for in newborns, sickle cell disease is the most common. The number of sick people in France is estimated at 30,000. And it continues to progress. Between 2012 and 2022, while the frequency of other diseases detected was stable, the number of babies born with major sickle cell syndrome increased from 382 to 684, or one case in 1,061 births – this is five times more than cystic fibrosis. .
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### Interview on the Implementation of Newborn Screening for Sickle Cell Disease
**Interviewer:** Good morning! Today we have Dr. Claire Dupont, a pediatrician and advocate for neonatal health, with us to discuss the recent implementation of newborn screening for sickle cell disease across France. Thank you for joining us, Dr. Dupont.
**Dr. Claire Dupont:** Good morning! It’s a pleasure to be here.
**Interviewer:** Let’s dive right in. The screening program officially began on November 1, 2024. Can you explain what this screening entails?
**Dr. Claire Dupont:** Absolutely. The screening, commonly known as the Guthrie test, involves taking drops of blood from a newborn’s heel. This blood is then applied to blotting paper and sent for analysis to check for several conditions, including sickle cell disease. This test is crucial as early detection can significantly improve the management and outcomes for affected newborns.
**Interviewer:** It sounds like a simple yet effective process. Why is newborn screening for sickle cell disease particularly important?
**Dr. Claire Dupont:** Sickle cell disease is a genetic condition that can lead to severe health issues, particularly in populations with African, Caribbean, Indian, and Mediterranean ancestry. Early diagnosis through screening allows for timely interventions, which can prevent complications such as infections, pain crises, and even stroke. The generalization of this screening means that we can catch these cases that might have otherwise been missed, particularly in broader, at-risk populations.
**Interviewer:** Previously, there seems to have been an issue with targeted screening that some groups found stigmatizing. Can you shed light on this change?
**Dr. Claire Dupont:** Yes, historically, screening efforts in France were often limited to specific ethnic groups. This approach faced criticism for being stigmatizing and discriminatory, leading to inequities in healthcare access. The shift to universal screening reflects a more inclusive policy aimed at protecting all newborns, regardless of their background. It acknowledges that sickle cell disease can affect any newborn and ensures that everyone has access to the necessary care from the start.
**Interviewer:** It’s great to hear that the health system is evolving to be more inclusive. How did advocacy from patient associations influence this change?
**Dr. Claire Dupont:** Advocacy has played a pivotal role. Patient associations have tirelessly campaigned for improved screening and awareness over the past decade. Their voices highlighted the struggles of families affected by the disease and the potential for better health outcomes with early intervention. It took a concerted effort, but their impact cannot be overstated—it led to a policy change that benefits all babies in France.
**Interviewer:** What do you hope to see next in terms of policy and support for families affected by sickle cell disease?
**Dr. Claire Dupont:** Moving forward, I hope we continue to build on this foundation with comprehensive support systems for families, including education on the disease, access to specialized healthcare providers, and ongoing research into treatments. Sickle cell disease management is multifaceted, and addressing the complete care spectrum is essential for improving outcomes.
**Interviewer:** Thank you so much for your insights today, Dr. Dupont. It’s encouraging to see progress in healthcare policy that positively impacts newborns and their families.
**Dr. Claire Dupont:** Thank you for having me! It’s a vital topic, and I am hopeful for the improvements we can continue to make together.
