《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
0 i( P% r0 d* vdiagnosis, but it is not yet clear how useful it will be for disease
( V" A) i' g- n) {prevention or health management. A US$25-million project6 f/ ~) u5 V1 Z6 q/ q: E7 ~$ J
announced last week aims to explore that issue in perhaps the most
% G0 g. {; }6 c3 m4 Chigh-stakes patient group: newborn babies.5 r5 z7 ]+ B$ j  L
In the Genomic Sequencing and Newborn Screening Disorders
3 `, G# i# t0 L2 ~+ C6 j! E4 F(GSNSD) programme, four teams will sequence the exomes — the
, r6 N, x+ P9 w. q. n8 f* Gprotein-coding portions of the genome — or the whole genomes of
- i  n3 o  \- b4 c( @4 q0 }9 v- dmore than 1,500 babies, including not only infants who are ill, whether5 G8 e- `( s/ f- Y
or not the disease has been diagnosed, but also healthy babies. The
: ]5 U( y( X; ~3 H/ v' t, K9 g7 v% L# Tprogramme is funded by the US National Human Genome Research9 v! O; ]* o- ~9 m
Institute and the Eunice Shriver Kennedy National Institute of Child' g) p5 h; a  `( |: g
Health and Human Development (NICHD). The studies will examine/ D5 ?: J# U. r0 M" d
how useful sequencing information is for families and doctors, and
# x" t2 `% E; h) [$ Owhether it is superior to data gathered through conventional newbornscreening: {' J3 Y- _8 }' P! b# q/ R7 r
methods, which check for about 60 genetic disorders.
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孙弘博

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