Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
| Autor: | Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Wendi N. Betting, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Chet Graham, Amanda M. Guiterrez, Maegan Harden, Joel B. Krier, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Population 030105 genetics & heredity Monogenic disease Article 03 medical and health sciences Neonatal Screening Risk Factors Exome Sequencing False positive paradox Medicine Humans education Genetics (clinical) Exome sequencing Newborn screening education.field_of_study business.industry Genomic sequencing Infant Newborn food and beverages Chromosome Mapping Infant Hearing screen Genomics 030104 developmental biology embryonic structures business Genetic diagnosis |
| Zdroj: | Genet Med |
| ISSN: | 1530-0366 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink