Mitchell Calli O, Rivera-Cruz Greysha, Chau Matthew Hoi Kin, Dong Zirui, Choy Kwong Wai, Shen Jun, Amr Sami, Giersch Anne B S, Morton Cynthia C
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Int J Neonatal Screen. 2022 May 27;8(2):36. doi: 10.3390/ijns8020036.
Recent advances in genomic sequencing technologies have expanded practitioners' utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the interpretation of genome sequences, clinicians face decisions about how and when genomic information should be presented to families, and at what potential expense. Presently, there is limited knowledge or experience in establishing the value of implementing genome sequencing into newborn screening. Herein we provide insight into the complexities and the burden and benefits of knowledge resulting from genome sequencing of newborns.
基因组测序技术的最新进展已及时、高效地扩大了从业者对遗传信息的利用,以实现准确诊断。随着基因组序列解读进展带来的基因组数据资源不断增加,临床医生面临着关于如何以及何时向家庭呈现基因组信息以及可能付出何种代价的决策。目前,在确定将基因组测序纳入新生儿筛查的价值方面,知识和经验有限。在此,我们深入探讨了新生儿基因组测序所带来的复杂性、知识负担及益处。