2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: findings from the first real-world dataset

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This document presents the findings from a study that used genome sequencing (GS) to screen ostensibly healthy newborns and children for genetic conditions. The study aimed to assess the rate and scope of potential genetic diagnoses in this population. Two screening options were offered: exome-sequencing based gene panel (ESGP) for 270 medically actionable pediatric conditions, and GS screening for an unrestricted number of conditions. The findings showed that GS uncovered over 8% of children at risk for genomic disease, and around half of these findings were associated with high penetrance conditions. The molecular findings identified through GS were diverse and could not be easily captured by limited gene panels. The study demonstrated that GS has the potential to greatly impact healthcare management for at-risk babies and provide valuable information for their family members. The authors conclude that GS is ready for implementation in the care of sick and healthy newborns, and call for a nationwide study to further understand its impact on clinical outcomes and economic costs. They also emphasize the need for a systematic evaluation of healthcare system policies and processes to support the integration of newborn GS into routine care.

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Presenting Author - Jorune Balciuniene, PhD, FACMG, ErCLG; Co-Author - Ruby Liu, PhD, CGC; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Lora H. Bean, PhD; Co-Author - Fen Guo, PhD, FACMG, FCCMG; Co-Author - Babi Ramesh Reddy Nallamilli, PhD; Co-Author - Naga M. Guruju, PhD, FACMG; Co-Author - Xiangwen Chen-Deutsch, PhD; Co-Author - Rizwan Yousaf, PhD; Co-Author - Kristina Fura, BS; Co-Author - Ephrem Chin, MBA, BTech(Hon), MB(ASCP) CM, QLC CM, CGMBS; Co-Author - Cristina da Silva, MS; Co-Author - Abhinav Mathur, MS; Co-Author - Zeqiang Ma, PhD; Co-Author - Madhuri Hegde, PhD, FACMG;

Meta Tag

Genetic Testing

Genome sequencing

Sequencing

Co-Author Ruby Liu, PhD, CGC

Co-Author Christin D. Collins, PhD, FACMG

Co-Author Lora H. Bean, PhD

Co-Author Fen Guo, PhD, FACMG, FCCMG

Co-Author Babi Ramesh Reddy Nallamilli, PhD

Co-Author Naga M. Guruju, PhD, FACMG

Co-Author Xiangwen Chen-Deutsch, PhD

Co-Author Rizwan Yousaf, PhD

Co-Author Kristina Fura, BS

Co-Author Ephrem Chin, MBA, BTech(Hon), MB(ASCP) CM, QLC CM, CGMBS

Co-Author Cristina da Silva, MS

Co-Author Abhinav Mathur, MS

Co-Author Zeqiang Ma, PhD

Co-Author Madhuri Hegde, PhD, FACMG

Presenting Author Jorune Balciuniene, PhD, FACMG, ErCLG

Keywords

genome sequencing

newborn screening

genetic conditions

medically actionable pediatric conditions

exome-sequencing based gene panel

unrestricted number of conditions

genomic disease

high penetrance conditions

molecular findings

healthcare management