據(jù)一項(xiàng)新的研究報(bào)告,，新的全基因組測序技術(shù)僅在幾天之內(nèi)就能對(duì)ICU中的新生兒的遺傳性疾病進(jìn)行診斷。該技術(shù)主要的革命性特點(diǎn)是速度（在一個(gè)為時(shí)50小時(shí)的周轉(zhuǎn)時(shí)間內(nèi)就可獲得遺傳學(xué)的檢驗(yàn)結(jié)果,，而用目前的方法需要幾個(gè)星期的時(shí)間才能獲得這些結(jié)果）,。這種基因測試可縮短獲得診斷的時(shí)間，快速啟動(dòng)任何可得到的治療,，并減少焦慮的父母獲得遺傳咨詢的時(shí)間,。這種叫做SSAGA的技術(shù)可讓任何的醫(yī)生通過幾次點(diǎn)擊就能開出一個(gè)復(fù)雜的基因組檢驗(yàn)的要求。在獲取一滴血并提取了寶寶的DNA之后,，醫(yī)生們可按下代表他們?cè)谝粋€(gè)病人身上所見的某疾病特征的按鈕,。電腦接著會(huì)將那些內(nèi)容繪制成為大約有7500個(gè)基因和遺傳性疾病的完整的集合（開出檢驗(yàn)要求的醫(yī)生對(duì)于其中的許多遺傳疾病并不熟悉）。該系統(tǒng)接著會(huì)尋找可解釋寶寶疾病的DNA編碼的改變,。
該整個(gè)過程可在大約2天內(nèi)完成,，而且對(duì)于在新生兒重癥監(jiān)護(hù)病房中的使用是理想的。研究人員用這種新技術(shù)能夠在他們所測試 的4個(gè)寶寶中對(duì)3個(gè)做出明確的診斷,。這種快速的診斷對(duì)寶寶的健康可產(chǎn)生巨大的作用,。大約有500種遺傳性疾病可以得到治療。例如,，苯丙酮尿癥或PKU就是一種會(huì)影響新生兒并導(dǎo)致智力障礙和癲癇發(fā)作的遺傳病,。然而，早期診斷和后續(xù)治療（進(jìn)食一種苯丙氨酸這一氨基酸闕如的飲食）可使得孩子具有正常的智力發(fā)育和壽命,。該研究團(tuán)隊(duì)接下來計(jì)劃將該測試擴(kuò)大至100個(gè)或以上的寶寶以準(zhǔn)確地了解該測試確切的效益,、成本及問題（如果有的話）,。研究人員還相信他們能夠在今年底的時(shí)候?qū)⒖偟臋z測時(shí)間從50小時(shí)削減成36個(gè)小時(shí),。（生物谷Bioon.com）
doi: 10.1126/scitranslmed.3004041
PMC:
PMID:
Rapid Whole-GenomeSequencing for Genetic-Disease Diagnosis in Neonatal Intensive Care Units
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF.
Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense unmet need exists for improved molecular diagnosis in infants. Because disease progression is extremely rapid, albeit heterogeneous, in newborns, molecular diagnoses must occur quickly to be relevant for clinical decision-making. We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automated bioinformatic analysis and is intended to be a prototype for use in neonatal intensive care units. Retrospective 50-hour WGS identified known molecular diagnoses in two children. Prospective WGS disclosed potential molecular diagnosis of a severe GJB2-related skin disease in one neonate; BRAT1-related lethal neonatal rigidity and multifocal seizure syndrome in another infant; identified BCL9L as a novel, recessive visceral heterotaxy gene (HTX6) in a pedigree; and ruled out known candidate genes in one infant. Sequencing of parents or affected siblings expedited the identification of disease genes in prospective cases. Thus, rapid WGS can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.
