NeoSeq: a new method of genomic sequencing for newborn screening

Wang, Nana; Yang, Yuqi; Zhou, Li-Na; Wang, Yu; Long, Wei; Yu, Bin

doi:10.1186/s13023-021-02116-5

Cited by 16 publications

(17 citation statements)

References 32 publications

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“…The questionnaire was designed by the team at the Newborn Screening Center of Changzhou Maternal and Child Health Care Hospital, based on literature and previous clinical practice (8). The questionnaire consisted of four sections with 27 questions (Supplementary File 1).…”

Section: Questionnairesmentioning

confidence: 99%

“…In China, nGS is rapidly gaining traction. Beijing (6), Shanghai (7), and Jiangsu (8) have successively conducted relevant studies, such as NESTS and NeoSeq. These studies have confirmed that nGS could further expand the genetic diseases that could not be found by traditional screening methods, provided more genetic information, and showed great technical advantages and broad prospects for application.…”

Section: Introductionmentioning

confidence: 99%

“…However, the high cost and technical difficulty of WES cannot be ignored. The study of NESTS (6) in China screened 596 types of serious genetic diseases through targeted sequencing, while NeoSeq used multiplex PCR amplicon sequencing (MTA-Seq) technology to screen 75 diseases (8). These technologies have certain advantages, and also have technical limitations.…”

Section: Introductionmentioning

confidence: 99%

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Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

et al. 2022

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ObjectivesTo understand the knowledge, attitude, willingness, and ability of healthcare professionals working in newborn screening (NBS) centers regarding newborn genetic screening (nGS).MethodsThe questionnaire consisted of four sections with 27 questions and the data were collected by the WJX platform. All participants accessed the questionnaire by scanning a specific QR code with their mobile phones. Two researchers independently completed the summary and analysis.ResultsA total of 258 valid questionnaires were collected from 43 NBS centers in six provinces of southeast China. In total, 209 (81.01%) participants were interested in nGS, and almost all participants (97.67%) thought that nGS was necessary in China. About 89.53% of participants thought that it could be used to effectively expand the diseases that could be screened, but 72.87% also worried about the inability to provide genetic counseling. About 55.34% suggested that nGS and tandem mass spectrometry (TMS) screening could be applied in a unite screening mode. The higher the institution and personal education levels, the higher the interest healthcare professionals displayed toward nGS. However, they also showed greater concern about the inability to provide genetic counseling and ethical issues. If a center had engaged in TMS screening, its staff would have been more likely to believe that nGS had great advantages. In addition, most participants had ethical concerns, such as “the psychological burden caused by carrying information regarding adult morbidity risk.”ConclusionMost participants were interested and considered nGS necessary. The inability to provide genetic counseling may be the primary impediment to clinical practice. Three important influencing factors were level of education, institution level, and engagement in TMS screening.

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Section: Questionnairesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

et al. 2022

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“…Recently, newborn genomic sequencing (nGS) brings new opportunities to further expand newborn screening (NBS), which is an important public health project. 1 From 2013, BabySeq, 2 NBSeq, 3 NC NEXUS, 4 STATseq, 5 NESTS 6 and NeoSeq 7 successively confirmed that nGS could further expand the genetic diseases that could not be found by traditional screening methods and was considered as another innovation in the field of NBS. However, there are still many problems to be discussed and solved before large-scale clinical practice.…”

Section: Introductionmentioning

confidence: 93%

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

Yang¹,

Wang²,

Zhou³

et al. 2022

TACG

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Objective To explore the clinical value of newborn genomic screening (nGS) for neonatal intensive care units (NICU) infants (taking neonatal hyperbilirubinemia as an example). Methods Dried blood spots (DBSs) were collected after 72 hours of birth. The tandem mass spectrometry (TMS) screening and Angel Care genomic screening (GS, based on Targeted next-generation sequencing) were performed at the same time. Results Ninety-six hyperbilirubinemia newborns were enrolled in this study and none was identified with inborn errors of metabolism (IEM) by TMS, while 6 infants (6.25%, 6/96) were suspected to have a genetic disorder by Angel Care, including 2 cases of glucose-6-phosphate dehydrogenase deficiency (G6PD), and 1 case of maple syrup urine disease type 1B (MSUD1B), autosomal recessive deafness 1A (DFNB1A), Leber hereditary optic neuropathy (LHON), thyroid dyshormonogenesis 6 (TDH6) each. In addition, 44 infants (45.8%) were detected having at least one variant which conferred a carrier status for a recessive childhood-onset disorder. A total of 33 out of 60 variants (55.0%) reported for carrier status were pathogenic (P), 24 (40.0%) were likely pathogenic (LP), and 3 variants were variant of uncertain significance (VUS). Top six common genes of carrier status were GJB2, DUOX2, PRODH, ATP7B, SLC12A3, SLC26A4 . Two newborns showed abnormalities in elementary screening of TMS, but were confirmed as false positive after recall. Their results of Angel Care did not found abnormality. Conclusion Using neonatal hyperbilirubinemia as an example, genome sequencing screening can find more evidence of genetic variation in NICU newborns, and “Angel Care” is an effective method.

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“…Commercially available targeted–sequencing tests can interrogate a finite number of genes associated with specific genetic disorders. These panels are less expensive than genomic sequencing, return results faster, and rarely identify secondary findings . A comparative analysis between genomic sequencing and a targeted neonatal gene-sequencing test has not been previously performed …”

Section: Introductionmentioning

confidence: 99%

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

Maron

Gelb

Vockley

et al. 2023

JAMA

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ImportanceGenomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene-sequencing test provides comparable molecular diagnostic yields and times to return of results.ObjectiveTo compare outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test.Design, Setting, and ParticipantsThe Genomic Medicine for Ill Neonates and Infants (GEMINI) study was a prospective, comparative, multicenter study of 400 hospitalized infants younger than 1 year of age (proband) and their parents, when available, suspected of having a genetic disorder. The study was conducted at 6 US hospitals from June 2019 to November 2021.ExposureEnrolled participants underwent simultaneous testing with genomic sequencing and a targeted neonatal gene-sequencing test. Each laboratory performed an independent interpretation of variants guided by knowledge of the patient’s phenotype and returned results to the clinical care team. Change in clinical management, therapies offered, and redirection of care was provided to families based on genetic findings from either platform.Main Outcomes and MeasuresPrimary end points were molecular diagnostic yield (participants with ≥1 pathogenic variant or variant of unknown significance), time to return of results, and clinical utility (changes in patient care).ResultsA molecular diagnostic variant was identified in 51% of participants (n = 204; 297 variants identified with 134 being novel). Molecular diagnostic yield of genomic sequencing was 49% (95% CI, 44%-54%) vs 27% (95% CI, 23%-32%) with the targeted gene-sequencing test. Genomic sequencing did not report 19 variants found by the targeted neonatal gene-sequencing test; the targeted gene-sequencing test did not report 164 variants identified by genomic sequencing as diagnostic. Variants unidentified by the targeted genomic-sequencing test included structural variants longer than 1 kilobase (25.1%) and genes excluded from the test (24.6%) (McNemar odds ratio, 8.6 [95% CI, 5.4-14.7]). Variant interpretation by laboratories differed by 43%. Median time to return of results was 6.1 days for genomic sequencing and 4.2 days for the targeted genomic-sequencing test; for urgent cases (n = 107) the time was 3.3 days for genomic sequencing and 4.0 days for the targeted gene-sequencing test. Changes in clinical care affected 19% of participants, and 76% of clinicians viewed genomic testing as useful or very useful in clinical decision-making, irrespective of a diagnosis.Conclusions and RelevanceThe molecular diagnostic yield for genomic sequencing was higher than a targeted neonatal gene-sequencing test, but the time to return of routine results was slower. Interlaboratory variant interpretation contributes to differences in molecular diagnostic yield and may have important consequences for clinical management.

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NeoSeq: a new method of genomic sequencing for newborn screening

Cited by 16 publications

References 32 publications

Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

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