是否应该在婴儿出生时对其基因组进行测序？ - Suppr

Suppr

超能文献

Should all babies have their genome sequenced at birth?

作者信息

Biesecker Leslie G, Green Eric D, Manolio Teri, Solomon Benjamin D, Curtis David

机构信息

National Human Genome Research Institute, Bethesda, Maryland, USA

National Human Genome Research Institute, Bethesda, Maryland, USA.

出版信息

BMJ. 2021 Nov 17;375:n2679. doi: 10.1136/bmj.n2679.

DOI:10.1136/bmj.n2679

PMID:34789511

Abstract

摘要

相似文献

Should all babies have their genome sequenced at birth?

BMJ. 2021 Nov 17;375:n2679. doi: 10.1136/bmj.n2679.

Baby genome screening: paving the way to genetic discrimination?

BMJ. 2017 Jul 20;358:j3294. doi: 10.1136/bmj.j3294.

Ethical Implications of Rapid Whole-Genome Sequencing in Neonates.

Neonatal Netw. 2018 Jan 1;37(1):42-44. doi: 10.1891/0730-0832.37.1.42.

Sequencing projects will screen 200,000 newborns for disease.

Science. 2022 Dec 16;378(6625):1159. doi: 10.1126/science.adg2858. Epub 2022 Dec 15.

Baby steps.

Science. 2021 Sep 24;373(6562):1460-1463. doi: 10.1126/science.acx9135. Epub 2021 Sep 23.

Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States.

J Pediatr. 2021 Dec;239:235-239. doi: 10.1016/j.jpeds.2021.08.010. Epub 2021 Aug 12.

Whole genome sequencing helps pinpoint a genetic diagnosis for patients.

BMJ. 2021 Nov 3;375:n2680. doi: 10.1136/bmj.n2680.

Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.

Pediatrics. 2019 Jan;143(Suppl 1):S1-S5. doi: 10.1542/peds.2018-1099B.

Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations.

J Genet Genomics. 2020 Mar 20;47(3):167-169. doi: 10.1016/j.jgg.2020.03.001. Epub 2020 Mar 19.

[Consensus on the application of clinical whole genome sequencing in the diagnosis of genetic diseases].

Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):419-423. doi: 10.3760/cma.j.issn.0578-1310.2019.06.004.

引用本文的文献

Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.

NPJ Genom Med. 2024 Dec 19;9(1):70. doi: 10.1038/s41525-024-00451-7.

Contributing to an autism biobank: Diverse perspectives from autistic participants, family members and researchers.

Autism. 2024 Jul;28(7):1719-1731. doi: 10.1177/13623613231203938. Epub 2023 Oct 26.

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.

Int J Neonatal Screen. 2023 Apr 11;9(2):22. doi: 10.3390/ijns9020022.

Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model.

Genet Med. 2023 Apr;25(4):100797. doi: 10.1016/j.gim.2023.100797. Epub 2023 Jan 31.

Genetics and"democracy".

Ital J Pediatr. 2022 Dec 26;48(1):202. doi: 10.1186/s13052-022-01391-7.

Perspectives on the future of dysmorphology.

Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9.

Clinician adherence to pharmacogenomics prescribing recommendations in clinical decision support alerts.

J Am Med Inform Assoc. 2022 Dec 13;30(1):132-138. doi: 10.1093/jamia/ocac187.

Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.

Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):243-256. doi: 10.1002/ajmg.c.32005. Epub 2022 Oct 11.

Developmental implications of genetic testing for physical indications.

Eur J Hum Genet. 2022 Nov;30(11):1297-1300. doi: 10.1038/s41431-022-01181-z. Epub 2022 Sep 6.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Should all babies have their genome sequenced at birth?

BMJ. 2021 Nov 17;375:n2679. doi: 10.1136/bmj.n2679.

Baby genome screening: paving the way to genetic discrimination?

BMJ. 2017 Jul 20;358:j3294. doi: 10.1136/bmj.j3294.

Ethical Implications of Rapid Whole-Genome Sequencing in Neonates.

Neonatal Netw. 2018 Jan 1;37(1):42-44. doi: 10.1891/0730-0832.37.1.42.

Sequencing projects will screen 200,000 newborns for disease.

Science. 2022 Dec 16;378(6625):1159. doi: 10.1126/science.adg2858. Epub 2022 Dec 15.

Baby steps.

Science. 2021 Sep 24;373(6562):1460-1463. doi: 10.1126/science.acx9135. Epub 2021 Sep 23.

Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States.

J Pediatr. 2021 Dec;239:235-239. doi: 10.1016/j.jpeds.2021.08.010. Epub 2021 Aug 12.

Whole genome sequencing helps pinpoint a genetic diagnosis for patients.

BMJ. 2021 Nov 3;375:n2680. doi: 10.1136/bmj.n2680.

Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.

Pediatrics. 2019 Jan;143(Suppl 1):S1-S5. doi: 10.1542/peds.2018-1099B.

Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations.

J Genet Genomics. 2020 Mar 20;47(3):167-169. doi: 10.1016/j.jgg.2020.03.001. Epub 2020 Mar 19.

[Consensus on the application of clinical whole genome sequencing in the diagnosis of genetic diseases].

Zhonghua Er Ke Za Zhi. 2019 Jun 2;57(6):419-423. doi: 10.3760/cma.j.issn.0578-1310.2019.06.004.

引用本文的文献

Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.

NPJ Genom Med. 2024 Dec 19;9(1):70. doi: 10.1038/s41525-024-00451-7.

Contributing to an autism biobank: Diverse perspectives from autistic participants, family members and researchers.

Autism. 2024 Jul;28(7):1719-1731. doi: 10.1177/13623613231203938. Epub 2023 Oct 26.

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.

Int J Neonatal Screen. 2023 Apr 11;9(2):22. doi: 10.3390/ijns9020022.

Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model.

Genet Med. 2023 Apr;25(4):100797. doi: 10.1016/j.gim.2023.100797. Epub 2023 Jan 31.

Genetics and"democracy".

Ital J Pediatr. 2022 Dec 26;48(1):202. doi: 10.1186/s13052-022-01391-7.

Perspectives on the future of dysmorphology.

Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9.

Clinician adherence to pharmacogenomics prescribing recommendations in clinical decision support alerts.

J Am Med Inform Assoc. 2022 Dec 13;30(1):132-138. doi: 10.1093/jamia/ocac187.

Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.

Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):243-256. doi: 10.1002/ajmg.c.32005. Epub 2022 Oct 11.

Developmental implications of genetic testing for physical indications.

Eur J Hum Genet. 2022 Nov;30(11):1297-1300. doi: 10.1038/s41431-022-01181-z. Epub 2022 Sep 6.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24.