In an article published by the Washington Post, Tiffany King, a new mother, discovers that her newborn baby has a genetic mutation that is linked to Pendred syndrome. Tiffany, a resident of North Carolina, performed the state mandated newborn screening to test for approximately 60 diseases, a test that came back negative. However, Tiffany and her husband took advantage of an opportunity offered by a study to do a full genetic sequence test to complement traditional screening methods. The novel testing method screens for an extra 200 conditions not covered by the traditional tests.
At the time of writing in North Carolina 1800 babies had been sequenced identifying 40 cases of undiagnosed conditions. In New York over 10,000 genome sequences were collected with 299 conditions found that slipped through the state mandated testing.
Technological advances in sequencing over the past decade have made testing of an entire genome faster and cheaper, placing it now in the financial range of a routine diagnostic test. This increases the accessibility of the test, allowing for proactive identification of genetic issues, as exemplified by Tiffany’s son.
Moving forward, this genomic testing of individuals can provide higher quality healthcare for individuals throughout the lifespan.
In a review article reviewing the Taiwanese Newborn Screening system (NBS), Doctors Chien and Hwu found that the benefits of whole genome sequencing to test for genetic defects in newborns does not outweigh the faster turnaround time of the traditional screening methods. They based this on 12% exome false-negative results being reported, as well as inconsistencies between the genome testing and the traditional testing results.
They point out, however, that combining both screening methods could provide the most comprehensive solution between quick results and comprehensive genetic diagnoses.
Johnson, M. (2024, June 17). Pioneering studies show promise in sequencing a baby’s genome at birth. The Washington Post. https://www.washingtonpost.com/science/2024/06/17/sequence-baby-genome-diseases/
Chien, Y.-H. and Hwu, W.-L. The modern face of newborn screening. Pediatrics & Neonatology 64, S22–S29 (2023). https://doi.org/10.1016/j.pedneo.2022.11.001