From traditional screening to genomic analysis: a new era in neonatal diagnostics

Every year, thousands of children are born with rare genetic diseases that often go unnoticed until symptoms appear. This leads to the loss of valuable time when timely treatment could save lives or significantly improve their quality. Many of these diseases have effective treatment options if diagnosed early. However, traditional screening methods are limited in their ability to detect various conditions, which significantly reduces their effectiveness.

Neonatal screening: current practices and advances

Newborn screening has long been a standard practice in many countries, but the number of analyzed diseases and detection methods vary significantly. Traditional screening covers only a limited number of metabolic and genetic disorders. The development of next-generation sequencing (NGS) technologies offers the potential to greatly expand the range of diseases that can be diagnosed in early infancy.

In 2023, approximately 100,000 newborns worldwide participated in pilot programs utilizing NGS for neonatal screening. Illumina is actively involved in at least nine large-scale international studies covering up to 40,000 infants. Some of these include:

• GUARDIAN (USA) – One of the largest studies in New York, aiming to sequence the genomes of 100,000 newborns. Research findings indicate that 3.7% of newborns carried genetic variations that traditional screening could not detect. For example, one infant was diagnosed with severe combined immunodeficiency, a life-threatening condition that would have gone unnoticed without genomic analysis.
• Generation Study (UK) – A national project initiated by Genomics England with government support. It evaluates the effectiveness of Whole Genome Sequencing (WGS) in detecting over 200 rare genetic diseases. A distinctive feature of this study is the use of umbilical cord blood samples instead of the traditional dried blood spot test. Over 2,250 infants have been enrolled so far, with plans to expand to 30–40 hospitals, increasing access to genetic testing and its practical application in clinical medicine.
• BabyScreen+ (Australia) & BabyDetect (Belgium) – These initiatives focus on integrating NGS into national neonatal screening programs. BabyScreen+ aims to incorporate NGS into routine newborn examinations in Australian hospitals, assessing its efficiency and cost-effectiveness. BabyDetect, on the other hand, is adapting this technology for the Belgian healthcare system, with an emphasis on improving the early detection of rare genetic diseases. Preliminary results indicate that including NGS in these programs can significantly enhance the timely diagnosis of genetic conditions and improve patient outcomes.

Illumina solutions for genetic screening

Illumina offers comprehensive solutions for Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) to facilitate the integration of genetic analysis into clinical practice:

• Illumina Complete Long Read Prep, Human – A high-precision solution for WGS on NovaSeq platforms.
• Illumina Complete Long Reads with Enrichment, Human – An affordable, flexible, and targeted sequencing solution that enables the study of complex genomic regions.
• Illumina DNA PCR-Free Prep – An efficient, fast, and integrated library preparation workflow ensuring high data accuracy for sensitive sequencing applications.
• TruSight Whole Genome – A scalable WGS solution compliant with EU IVDR 2017/746 requirements for clinical diagnostics.

Making personalized medicine accessible from birth

BioLabTech provides laboratories with cutting-edge solutions from Illumina to integrate WES and WGS into neonatal screening.

We offer expert support and internationally standardized solutions.

Sources:

Programs around the globe bring newborn screening into the Genome Era