While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself poses a crucial hindrance.
A new study suggests that genomic sequencing can greatly improve detection capability in newborn screening. Approximately 1 out of every 500 newborns benefited from the integration of gene panels as a first-tier screening test, according to the data published in JAMA Network Open.1
Newborn screening is a cornerstone of pediatric health care, designed to detect potential genetic disorders in infants as early as possible for prompt intervention and management, the study stated. Recent advancements in genetic sequencing technology have revolutionized the landscape of newborn screening, offering rapid and comprehensive assessments of a wide range of monogenic disorders.
The cohort study conducted by Ting Chen, MM, of the Shanghai Institute for Pediatric Research & Center for Clinical Innovation and Research at Xinhua Hospital, Shanghai Jiaotong University School of Medicine, and a team of investigators in China shed light on the effectiveness and outcomes of implementing gene panel sequencing as a first-tier newborn screening test.
The team recruited 29,601 newborns between February and December 2021 from 8 screening centers across China. Each participant underwent both traditional biochemical screening tests and targeted gene panel sequencing.
A total of 128 conditions were targeted with the gene panel sequencing, with 43 conditions being detectable by both biochemical and genomic tests, while the remaining 85 conditions were exclusively screened using gene panel sequencing.
Investigators observed the gene panel sequencing identified 813 infants (2.7%) as positive. Subsequent follow-up and diagnostic evaluations confirmed diagnoses in 402 of these infants (1.4%), resulting in a positive predictive value of 50.4%.
Results revealed the gene panel sequencing outperformed traditional biochemical tests by identifying 59 patients who would have otherwise been missed. This group consisted of 20 patients with conditions detectable through both biochemical and genetic screening, along with 39 patients with conditions solely identifiable through genetic screening.
These data indicate approximately 1 out of every 500 newborns (95% CI; 1/385-1/625) may need more screening than biochemical as a first-tier screening test. Genetic screening has the potential to significantly progress and enhance the accuracy of newborn screening programs.
The recent advancements in genomic sequencing are especially pivotal when it comes to diagnosing rare diseases. According to an invited commentary published in JAMA Network Open, rare diseases are often overlooked in traditional newborn screening due to their low prevalence, but the overall impact on public health is significant.2
“Moreover, many rare diseases are chronic and debilitating, leading to decreased quality of life and premature death,” the commentary stated. “They often require long-term specialized treatments that are both expensive and challenging to access.”
While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself also poses a crucial hindrance.
“Ensuring equitable access to genome sequencing in newborn screening is a significant challenge,” investigators wrote. “There are concerns that the benefits of genome sequencing could be primarily accessible to those in higher-income brackets or in certain geographical locations, exacerbating existing health disparities.”
As health care continues to evolve with advancements in genetic technologies, this study offers evidence-based support for considering gene panel sequencing as a vital tool in the arsenal of newborn screening methods, according to the study. The early identification of high-risk infants and the facilitation of timely interventions are crucial steps in improving health outcomes for newborns affected by genetic disorders.1
However, investigators acknowledged that further studies and collaborations are essential to validate these findings across diverse populations and health care systems, which will ultimately lead to the refinement and optimization of newborn screening protocols, ensuring that every newborn has the best chance at a healthy life.
1. Chen T, Fan C, Huang Y, et al. Genomic sequencing as a first-tier screening test and outcomes of newborn screening. JAMA Netw Open. 2023;6(9):e2331162. doi:10.1001/jamanetworkopen.2023.31162
2. Jiang S, Wang H, Gu Y. Genome sequencing for newborn screening—an effective approach for tackling rare diseases. JAMA Netw Open. 2023;6(9):e2331141. doi:10.1001/jamanetworkopen.2023.31141