Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

被引：56

作者：

Wojcik, Monica H. ^{[1
,2
,3
,4
,5
]}

Zhang, Tian ^{[1
,2
]}

Ceyhan-Birsoy, Ozge ^{[6
]}

Genetti, Casie A. ^{[1
,2
]}

Lebo, Matthew S. ^{[4
,7
,8
]}

Yu, Timothy W. ^{[1
,2
]}

Parad, Richard B. ^{[4
,9
]}

Holm, Ingrid A. ^{[1
,2
]}

Rehm, Heidi L. ^{[4
,5
,7
,8
]}

Beggs, Alan H. ^{[1
,2
]}

Green, Robert C. ^{[5
,10
,11
]}

Agrawal, Pankaj B. ^{[1
,2
,3
,4
,5
]}

Beggs, Alan H. ^{[1
,2
]}

Betting, Wendi N. ^{[10
]}

Ceyhan-Birsoy, Ozge ^{[6
]}

Christensen, Kurt D. ^{[10
]}

Dukhovny, Dmitry ^{[12
]}

Fayer, Shawn ^{[10
]}

Frankel, Leslie A. ^{[13
]}

Genetti, Casie A. ^{[1
,2
]}

Graham, Chet ^{[7
]}

Green, Robert C. ^{[5
,10
,11
]}

Guiterrez, Amanda M. ^{[14
]}

Harden, Maegan ^{[5
]}

Holm, Ingrid A. ^{[1
,2
]}

Krier, Joel B. ^{[4
,10
]}

Lebo, Matthew S. ^{[4
,7
,8
]}

Levy, Harvey L. ^{[1
,2
]}

Lu, Xingquan ^{[14
]}

Machini, Kalotina ^{[7
]}

McGuire, Amy L. ^{[14
]}

Murry, Jaclyn B. ^{[7
]}

Naik, Medha ^{[14
]}

Nguyen, Tiffany T. ^{[10
]}

Parad, Richard B. ^{[4
,9
]}

Peoples, Hayley A. ^{[14
]}

Pereira, Stacey ^{[14
]}

Petersen, Devan ^{[14
]}

Ramamurthy, Uma ^{[14
]}

Ramanathan, Vivek ^{[14
]}

Rehm, Heidi L. ^{[4
,5
,7
,8
]}

Roberts, Amy ^{[1
,2
]}

Robinson, Jill O. ^{[14
]}

Roumiantsev, Serguei ^{[4
,15
]}

Schwartz, Talia S. ^{[1
,2
]}

Truong, Tina K. ^{[1
,2
]}

VanNoy, Grace E. ^{[1
,2
]}

Waisbren, Susan E. ^{[1
,2
]}

Yu, Timothy W. ^{[1
,2
]}

机构：

[1] Harvard Med Sch, Div Genet & Gen, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA 02115 USA

[2] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[3] Boston Childrens Hosp, Dept Pediat, Div Newborn Med, Boston, MA 02115 USA

[4] Harvard Med Sch, Boston, MA 02115 USA

[5] Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA

[6] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA

[7] Partners HealthCare Personalized Med, Lab Mol Med, Cambridge, MA USA

[8] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

[9] Brigham & Womens Hosp, Dept Pediat Newborn Med, 75 Francis St, Boston, MA 02115 USA

[10] Brigham & Womens Hosp, Dept Med Genet, 75 Francis St, Boston, MA 02115 USA

[11] Ariadne Labs, Boston, MA USA

[12] Oregon Hlth & Sci Univ, Dept Pediat, 3181 Sw Sam Jackson Pk Rd, Portland, OR 97201 USA

[13] Univ Houston, Dept Psychol Hlth & Learning Sci, Houston, TX USA

[14] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA

[15] Massachusetts Gen Hosp, Dept Pediat, Div Neonatol & Newborn Med, Boston, MA 02114 USA

来源：

GENETICS IN MEDICINE | 2021年 / 23卷 / 07期

基金：

美国国家卫生研究院;

关键词：

DISORDERS;

D O I：

10.1038/s41436-021-01146-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized neonates to receive conventional NBS or NBS plus exome sequencing (ES) capable of detecting sequence variants that may also diagnose monogenic disease or indicate genetic disease risk. We therefore evaluated how ES and conventional NBS results differ in this population. Methods We compared results of NBS (including hearing screens) and ES for 159 infants in the BabySeq Project. Infants were considered "NBS positive" if any abnormal result was found indicating disease risk and "ES positive" if ES identified a monogenic disease risk or a genetic diagnosis. Results Most infants (132/159, 84%) were NBS and ES negative. Only one infant was positive for the same disorder by both modalities. Nine infants were NBS positive/ES negative, though seven of these were subsequently determined to be false positives. Fifteen infants were ES positive/NBS negative, all of which represented risk of genetic conditions that are not included in NBS programs. No genetic explanation was identified for eight infants referred on the hearing screen. Conclusion These differences highlight the complementarity of information that may be gleaned from NBS and ES in the newborn period.

引用

页码：1372 / 1375

页数：4

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