Innovative genetic technology to improve and extend newborn screening
In this project, the newly established public private partnership between the LUMC and MRC Holland will co-develop a genetic newborn screening (NBS) assay that can be easily implemented in screening laboratories. This assay aims to improve specificity and enables the inclusion of new conditions in the screening program, ultimately enhancing the overall NBS process.
Implementation of this novel genetic technology in the NBS program will have significantly impact on public health by reducing infant mortality and morbidity. Early identification of genetic disorders allows for timely interventions, preventing severe disabilities or death, thus enhancing the quality-of-life for affected individuals and their families. In addition, implementing could lead to substantial cost savings by preventing the progression of diseases and reducing long-term healthcare costs. Early management of conditions results in a healthier, more productive workforce, reducing absenteeism and boosting economic productivity.
There is a worldwide tendency towards integration of genome sequencing in NBS. However, at this moment there is too much societal resistance to genome sequencing in NBS, which stems from ethical concerns over privacy, data misuse, and high costs. There is a need in the current NBS program to improve specificity or sensitivity for certain conditions and to allow screening for other conditions, which cannot be identified via traditional screening methods. To overcome these issues, an innovative genetic test will be developed initially focused on three conditions (severe combined immunodeficiency, hemoglobinopathies and Duchenne Muscular Dystrophy), which detects specific genetic abnormalities with high accuracy, without the limitations and concerns of genome analysis.
In summary, this consortium will co-develop an innovative genetic test bridging the gap between genome sequencing and current biochemical NBS tests. This test can directly be implemented in the newborn screening program, which will improve and strengthen the NBS program ensuring its relevance and potential for significant health and economic impact.
