新生儿基因组测序——未来疾病预测的双刃剑

创作:hx 审核:hx 01月11日
纳入127名健康的以及32名重症监护室里的新生儿,进行新生儿基因组测序(nGS);
nGS结果提示9.4%的新生儿存在儿童疾病发生的风险,3.5%存在成年期疾病发生的风险;
88%的新生儿携带隐性疾病,5%的新生儿携带药物基因组学变异;
结合新生儿的临床指征,未发现足以解释这些指征的基因变异,而通过对其父母样本的检测,有助于解释新生儿基因组测序的结果;
nGS可以有效地检测并预测新生儿的疾病风险及携带状况,但其结果仍需要谨慎解读。
延伸阅读

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

健康和患病的新生儿全基因组测序结果的解读:来自BabySeq项目的结果

01-03, Article, 10.1016/j.ajhg.2018.11.016more

Abstract:
Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to be addressed for its broader and effective application. The BabySeq Project is a pilot randomized clinical trial that explores the medical, behavioral, and economic impacts of nGS in well newborns and those admitted to a neonatal intensive care unit (NICU). Here we present childhood-onset and actionable adult-onset disease risk, carrier status, and pharmacogenomics findings from nGS of 159 newborns in the BabySeq Project. nGS revealed a risk of childhood-onset disease in 15/159 (9.4%) newborns; none of the disease risks were anticipated based on the infants’ known clinical or family histories. nGS also revealed actionable adult-onset disease risk in 3/85 (3.5%) newborns whose parents consented to receive this information. Carrier status for recessive diseases and pharmacogenomics variants were reported in 88% and 5% of newborns, respectively. Additional indication-based analyses were performed in 29/32 (91%) NICU newborns and 6/127 (5%) healthy newborns who later had presentations that prompted a diagnostic analysis. No variants that sufficiently explained the reason for the indications were identified; however, suspicious but uncertain results were reported in five newborns. Testing parental samples contributed to the interpretation and reporting of results in 13/159 (8%) newborns. Our results suggest that nGS can effectively detect risk and carrier status for a wide range of disorders that are not detectable by current newborn screening assays or predicted based on the infant’s known clinical or family history, and the interpretation of results can substantially benefit from parental testing.

First Authors:
Ozge Ceyhan-Birsoy

Correspondence Authors:
Alan H Beggs

All Authors:
Ozge Ceyhan-Birsoy,Jaclyn B Murry,Kalotina Machini,Matthew S Lebo,Timothy W Yu,Shawn Fayer,Casie A Genetti,Talia S Schwartz,Pankaj B Agrawal,Richard B Parad,Ingrid A Holm,Amy L McGuire,Robert C Green,Heidi L Rehm,Alan H Beggs