Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

Hogner, Silje; Lundman, Emma; Strand, Janne; Ytre-Arne, Mari Eknes; Tangeraas, Trine; Stray-Pedersen, Asbjørg

doi:10.3390/ijns9040067

Cited by 1 publication

(1 citation statement)

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“…A report on a pilot using second-tier NGS with an amplicon based targeted gene panel has been shown to provide a rapid molecular diagnosis (or not) of SCID [ 947 ]. A recent report notes the value of Sanger sequencing for monogenic disorders caused by variants in one single gene or in a few genes and presents their Sanger methodology including primer sequences and the genetic test algorithms [ 948 ].…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%