Measure to manage, manage to measure
Measure to manage, manage to measure
Newborn screening (NBS), commonly known as the heel prick test, enables early detection of rare but serious disorders in newborns, including inherited metabolic diseases. Early diagnosis allows treatment to be initiated before irreversible health damage occurs. In the Netherlands, 27 disorders are currently included in the screening program. This dissertation of Allysa Kuijpers investigates how NBS for metabolic disorders, particularly Tyrosinemia type 1 (TT1), and subsequent patient monitoring can be improved.
TT1 is a rare metabolic disorder that, if left untreated, causes severe liver disease. However, current screening for TT1 produces many false-positive results, while mild cases may occasionally be missed. This research shows that combining multiple biomarkers can better distinguish children with and without TT1 without increasing the risk of missed cases. The causes of false-positive results were also investigated, as well as additional tests that may help reduce them. Furthermore, TT1 monitoring and treatment practices across several European countries were evaluated. The differences between countries highlight the need for more standardized guidelines for long-term care.
In addition to screening, reliable monitoring of metabolic disorders is essential for assessing treatment effectiveness and making timely adjustments. This research demonstrates that blood sampling and storage conditions can influence test results. Novel home sampling systems and future point-of-care devices may offer advantages in this regard.
In conclusion, improved biomarkers, reliable measurement methods, and standardized guidelines may contribute to earlier diagnosis and more personalized, less burdensome care for patients with metabolic disorders.