Costing model for neonatal screening and diagnosis of haemoglobinopathies

Abstract

Aim-To compare the costs and cost eVectiveness of universal and targeted screening for the haemoglobinopathies; to compare the cost of two laboratory methods; and to estimate the cost eVectiveness of programmes at diVerent levels of prevalence and mix of haemoglobinopathy traits. Methods-A retrospective review of laboratory and follow up records to establish workload and costs, and estimation of costs in a range of circumstances was made in a haematology department and sickle cell and thalassaemia centre, providing antenatal and neonatal screening programmes in Inner London. The costs for 47 948 babies, screened during 1994, of whom 25 had clinically significant haemoglobinopathies and 704 had haemoglobinopathy traits, were retrospectively assessed. Results-The average cost per baby tested (isoelectric focusing and high power liquid chromatography) was £3.51/£3.83 respectively; the cost per case of sickle cell disease identified (IEF/HPLC) was £6738/ £7355; the cost per trait identified (IEF/ HPLC) was £234/£255; the cost per extra case of SCD and trait identified by universal programme varied. Conclusions-IEF and HPLC are very similar in terms of average cost per test. At 16 traits/1000 and 0.5 SCD/1000 there was no significant identification cost difference between universal and targeted programmes. Below this prevalence, a targeted programme is cheaper but likely to miss cases of SCD. If targeted programmes were 90-99% eVective, universal programmes would cease to be good value except at very high prevalence. Greater use of prenatal diagnosis, resulting in termination, and therefore fewer aVected births, reduces the cost eVectiveness of universal screening. Screening services should aim to cover a screened population which will generate a workload over 25 000 births a year, and preferably over 40 000. (Arch Dis Child Fetal Neonatal Ed 1998;79:F161-F167) Keywords: screening; haemoglobinopathies; cost eVectiveness; workloadThe costs of screening and diagnosis of haemoglobinopathies in newborns reported here are for a region where the prevalence is relatively high, but the model presented allows costs to be quantified for both targeted and universal screening in areas of diVering prevalence. It is intended that this analysis will inform commissioning decisions on appropriate levels of screening for diVerent health districts and supplement existing guidance. 1These decisions should depend on the proportions of the population who carry haemoglobinopathy traits, which are related to the concentration of specific ethnic populations (African, Caribbean, Mediterranean, Asian, and those from the Far East and Middle East) and costs of selection, screening, and follow up.

Prevalencia de hemoglobinopatías en mujeres gestantes en el área sanitaria de Lanzarote

“…Los programas prospectivos de detección de portadores han sido propuestos por diferentes autores (14,15) como un método efectivo en la prevención y control de las formas graves homocigotas y dobles heterocigotas de las hemoglobinopatías. En España existen diferentes escrutinios de hemoglobinopatías estructurales en sangre de cordón de neonatos, lo que plantea algunos problemas metodológicos para la detección de hemoglobinas variantes en recién nacidos prematuros y también en la cuantificación del porcentaje de HbA 2 que suele ser indetectable en la muestra de sangre de cordón obtenida en los primeros días de vida y hace necesario, en algunos casos, una nueva extracción sanguínea a las dos o tres semanas del primer análisis para determinar adecuadamente el porcentaje de HbA 2 y fetal (13).…”

Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children

“…The average age of diagnosis of patients identified in this study was over 3 years of age. Early diagnosis of haemoglobinopathies conveys significant advantages, including avoidance of misdiagnosis and prompt treatment of potentially fatal clinical manifestations, opportunity for prophylaxis against infections, screening of siblings and genetic counselling of parents with respect to recurrence risk to future pregnancies 9 . Many parents were unaware of their carrier status or the risk to offspring, even though their ethnic group placed them at risk.…”

Neonatal screening for sickle cell disease in France: evaluation of the selective process: Table 1

“…It is also acknowledged that, in such programmes, some couples at risk will be missed because they are incorrectly identified as not being in a risk group 9. Such a selective programme has been performed in France since 1995.…”