Abstract
BackgroundSickle cell disease is one of the most common inherited blood disorders. Universal screening and early intervention have significantly helped to reduce childhood mortality in high-resource countries. However, persons living in low-resource settings are often not diagnosed until late childhood when they present with clinical symptoms. In addition, confirmation of disease in affected individuals in the urgent care setting is limited in both high- and low-resource areas, often leading to delay in treatment. All of the current diagnostic methods rely on advanced laboratory systems and are often prohibitively expensive and time-consuming in low-resource settings. To address this need, the Sickle SCAN™ test has been developed to diagnose sickle cell disease and sickle cell trait at the point of care without electricity or advanced equipment.MethodsThis study was conducted to evaluate and validate the diagnostic accuracy of the Sickle SCAN™ test, a novel point of care test for sickle cell disease. Thus, we describe the laboratory testing and clinical validation of the Sickle SCAN™ test in individuals >1 year of age using capillary blood. The Sickle SCAN™ test was created using advanced, qualitative lateral flow technology using capillary blood to identify the presence of hemoglobin A, S, and C allowing for detection of results with the naked eye.ResultsLaboratory testing using venous blood demonstrated 99 % sensitivity and 99 % specificity for the diagnosis of HbSS, HbAS, HbSC, HbAC, and HbAA. Seventy-one subjects underwent capillary blood sampling at the point of care for further validation. This test detected the correct A, S, and C presence with an overall diagnostic accuracy of 99 % at the bedside.ConclusionThe Sickle SCAN™ test has the potential to significantly impact the diagnosis and treatment for sickle cell disease worldwide as well as enhance genetic counseling at the point of care. Further validation testing will be conducted in newborns in resource-poor settings in upcoming studies.Electronic supplementary materialThe online version of this article (doi:10.1186/s12916-015-0473-6) contains supplementary material, which is available to authorized users.
Highlights
Sickle cell disease is one of the most common inherited blood disorders
The goal of this study was to test the diagnostic accuracy, including the sensitivity, specificity, and limit of detection (LoD) of this novel testing device (Sickle SCANTM) in the laboratory, and confirm the feasibility and validity of the test when used at the bedside
It was important that the results demonstrate that the new device is easy to use, can be performed with capillary blood, and that results are viewed at the point of care (POC)
Summary
Sickle cell disease is one of the most common inherited blood disorders. Universal screening and early intervention have significantly helped to reduce childhood mortality in high-resource countries. All of the current diagnostic methods rely on advanced laboratory systems and are often prohibitively expensive and time-consuming in low-resource settings. To address this need, the Sickle SCANTM test has been developed to diagnose sickle cell disease and sickle cell trait at the point of care without electricity or advanced equipment. SCD is caused by the inheritance of two copies of the gene encoding hemoglobin S, a protein that results from a missense mutation in the β-globin subunit of hemoglobin A, or the co-inheritance of the gene for hemoglobin S and another abnormal or nonfunctional hemoglobin gene [1]. Many low-resource countries in which SCD is far more prevalent remain unable to provide universal newborn screening, and affected children may not be diagnosed until they present with symptoms. In addition to the financial limitations of newborn screening, some countries with relatively high incidences of SCD are limited by governments that may not recognize or agree with the importance or utility of early testing
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