Author/Editor		Remec, Žiga Iztok; Trebušak Podkrajšek, Katarina; Repič-Lampret, Barbka; Kovač, Jernej; Grošelj, Urh; Tesovnik, Tine; Battelino, Tadej; Debeljak, Maruša
Title		Next-generation sequencing in newborn screening
Type		članek
Vol. and No.		, št. Vol. 12
Publication year		2021
Volume		str. 1-11
ISSN		1664-8021 - Frontiers in genetics
Language		eng
Abstract		Newborn screening was first introduced at the beginning of the 1960s with thesuccessful implementation of the first phenylketonuria screening programs. Earlyexpansion of the included disorders was slow because each additional disorderscreened required a separate test. Subsequently, the technological advancementsof biochemical methodology enabled the scaling-up of newborn screening, mostnotably with the implementation of tandem mass spectrometry. In recent years, wehave witnessed a remarkable progression of high-throughput sequencing technologies,which has resulted in a continuous decrease of both cost and time required forgenetic analysis. This has enabled more widespread use of the massive multiparallelsequencing. Genomic sequencing is now frequently used in clinical applications,and its implementation in newborn screening has been intensively advocated. Theexpansion of newborn screening has raised many clinical, ethical, legal, psychological,sociological, and technological concerns over time. This review provides an overview ofthe current state of next-generation sequencing regarding newborn screening includingcurrent recommendations and potential challenges for the use of such technologies innewborn screening.
Keywords		phenylketonuria newborn screening high-throughput sequencing fenilketonurija presejanje novorojenčkov zaporedje z visoko zmogljivostjo