Collection of dried blood spots is less invasive for patients and the costs and biohazards associated with sample transport, processing, and storage are minimized. The test uses mass spectrometry, a highly sensitive and specific technique, to simultaneously analyse proteins, enzymes, and metabolites in the blood, without the need for the large liquid blood samples currently used.

The test works by converting proteins to peptides and then using a mass spectrometer to select and accurately measure diagnostic metabolites and/or peptides. Liquid blood and urine samples can also be screened using the method.

Scientists have built on their innovative approaches to dried blood spot screening for inherited metabolic disease and sickle cell disease in newborn babies. This approach can now be used in the early detection and clinical monitoring of chronic health problems, including kidney and heart disease, and diabetes.

A spin-out company, SpotOn Clinical Diagnostics Ltd (London, United Kingdom) was launched by King's College London (United Kingdom) to provide both analytical services and technical support for other clinical laboratories, many of which already have appropriate mass spectrometry instrumentation, to offer this new method.

The new blood spot analysis method has many potential applications including screening babies for sickle cell disease and other clinically significant hemoglobinopathies; the current methods for antenatal screening for sickle cell disease and thalassaemia require fresh liquid blood samples, which are more expensive to process, store, and transport. The method has already been used to provide rapid diagnosis of a comprehensive range of inherited metabolic diseases in acutely ill children admitted to intensive care with life-threatening symptoms.

Presymptomatic screening for chronic health problems will introduce personalized clinical diagnostics and cost-effective early detection and monitoring of diabetes and kidney and heart disease.

The major advantages of the new method are that the measurements for proteins and metabolites can be done simultaneously with both high accuracy and sensitivity. Dried blood spots and/or dried urine spots offer significant cost savings in the logistics of sample collection, transport to the laboratory, sample processing, and storage.

Related Links:
SpotOn Clinical Diagnostics Ltd.
King's College London