Is Universal Neonatal Hemoglobinopathy Screening Cost-Effective?

A re‐examination of the use of ethnicity in prenatal carrier testing

“…A debate that remained after the introduction of NBS for hemoglobinopathies was whether screening should be targeted to children who were classified as members of high risk ethnicities or whether screening should be universal. A number of cost‐effectiveness analyses showed that targeted screening would be cheaper even if it were to miss a few cases [Sprinkle et al, 1994; Gessner et al, 1996; Cronin et al, 1998; Panepinto et al, 2000]. There are a number of reasons why states eventually chose to screen universally rather than to target infants of specific ethnicities.…”

Neonatal screening for sickle cell disorders

“…A number of authors have addressed the cost‐effectiveness of neonatal screening for haemoglobinopathies (Tsevat et al , 1991; Lane & Eckman, 1992; Sickle Cell Disease Guideline Panel, 1993; Wright, 1993; Sprinkle et al , 1994; Cronin et al , 1998; Zeuner et al , 1999; Davies et al , 2000). These reports have shown that laboratory ‘fixed costs’ are the major source of expenditure in screening programmes.…”

Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children

“…A review of these early screening results from 2003 to 2005 reveals that sickling disorders are as common as cystic fibrosis, which is another condition frequently detected by newborn screening. In the United States of America, where sickle cell disease is widespread, universal neonatal haemoglobinopathy screening appears to be socially accepted and cost‐effective, with thousands of cases diagnosed annually 5 . The disorder is much more common in the Afro‐American population than in other segments of the population but affects a variety of other ethnic groups.…”