Advancing Newborn Screening Toward Improving Pediatric Rare Genetic Diseases

Catherine Nester, BSN, is vice president of physician and patient strategies at Inozyme Pharma. With more than 25 years of clinical and pharmaceutical experience, Catherine previously served in leadership roles at Incyte and Alexion Pharmaceuticals.

Newborn screening is critical for pediatric health. As screening panels become more refined and incorporate a broader range of rare genetic diseases, they are helping more families facilitate early diagnoses of their babies’ conditions and chart a course for survival and long-term health. Given that September marks Newborn Screening Awareness Month, this is an opportunity to raise awareness of the significant gaps in newborn screening and recognize efforts to currently address these gaps.

Most rare diseases are still not included in newborn screening panels and adding them is a lengthy process that can take years to achieve. This leaves many families without a diagnosis and appropriate treatment options. Newborn screening is essential for identifying and initiating timely intervention in infants with rare genetic disorders like generalized arterial calcification of infancy (GACI), which has a mortality rate of 50 percent at six months of life.

To address gaps in newborn screening, some biotech companies offer free genetic testing. For example, in partnership with PreventionGenetics, Inozyme Pharma provides a global no-cost genetic testing program to improve the detection and understanding of two rare genetic diseases: ENPP1 and ABCC6 Deficiencies.

Additionally, research organizations like the Rady Children’s Institute for Genomic Medicine are transforming pediatric critical care by providing a rapid diagnosis through whole genome sequencing for critically ill infants with rare diseases. One of their initiatives focuses on a diagnostic and precision medicine guidance tool that uses rapid whole genome sequencing (rWGS) to screen newborns for approximately 400 genetic diseases.

The development and widespread adoption of advanced newborn screening technologies is necessary for current disease management, and may also facilitate the discovery of novel diseases, as well as a better understanding of the incidence and prevalence of rare diseases.