《自然》[Nature]13年9月12日出版pdf全文

孙弘博

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Genetic sequencing has established itself as a powerful tool for
* T2 _# ~4 m' {# xdiagnosis, but it is not yet clear how useful it will be for disease
; K# n. x2 F2 {* _' ]( @/ }prevention or health management. A US$25-million project- F0 r; m; u1 s6 R7 t( }6 W1 j' j
announced last week aims to explore that issue in perhaps the most
) h, ^+ {; o  V6 m0 G0 c! [  dhigh-stakes patient group: newborn babies.
# e( `9 Y& _) G% @$ K/ RIn the Genomic Sequencing and Newborn Screening Disorders& j7 l; ?- v% b6 A
(GSNSD) programme, four teams will sequence the exomes — the8 R6 }/ {" [) _" \" l
protein-coding portions of the genome — or the whole genomes of
0 o! m5 `" F' E2 v* A+ U& f) wmore than 1,500 babies, including not only infants who are ill, whether9 g- k8 Q2 A* }  I& k* x# s2 ?
or not the disease has been diagnosed, but also healthy babies. The
5 i  I; m% e0 \1 n2 v) C. d) w, sprogramme is funded by the US National Human Genome Research
" ]! N/ z! m; ^' S. o% K; uInstitute and the Eunice Shriver Kennedy National Institute of Child* U# e0 \; x% _' {( S- [
Health and Human Development (NICHD). The studies will examine
. R/ p) A% n9 f! S/ nhow useful sequencing information is for families and doctors, and
2 Z/ ~; v* J4 \4 f' cwhether it is superior to data gathered through conventional newbornscreening
9 n  m3 i/ D2 }0 p) R7 Gmethods, which check for about 60 genetic disorders.* M; J6 X2 H7 l# I

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孙弘博

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