Megan C. Sikes

Hospital-wide implementation of inpatient first-tier rapid genome sequencing

Tara Lynn Wenger, Abbey A. Scott, Lukas Kruidenier, Jennifer Cassady Hayek et autres

PURPOSE: To characterize the impact of hospital-wide implementation of inpatient first-tier rapid exome (rES) and rapid genome sequencing (rGS) at a large children's hospital. METHODS: This single-center study examines the diagnostic yield of rES/rGS in 1000 children after hospital-wide implementation of inpatient …

us (code pays fourni par la source)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

Alexandra Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie H. Conta et autres

Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time …

us (code pays fourni par la source)

P136: Hospital-wide implementation of first tier rapid genome sequencing

Tara Lynn Wenger, Abbey A. Scott, Luke Kruidenier, Jennifer Cassady Hayek et autres

P261: SeqFirst developmental differences: Early whole genome sequencing offered using broad inclusion criteria improves access to early precise genetic diagnosis

Katrina M Dipple, Dan Doherty, Kailyn Anderson, Olivia M. Sommerland et autres

Children with developmental delays and disability often experience a long and resource-intensive process to determine the underlying etiology of their delays, often termed the “diagnostic odyssey.” The SeqFirst Developmental Differences (SeqFirst DDi) project aims to test whether offering genome sequencing (GS) at …

us (code pays fourni par la source)

P390: Chimeric genome-wide uniparental disomy in two children with massive thymus enlargement

Hilary Bright, Cate Randall Paschal, Arthur Lenahan, Danielle Luz et autres

us (code pays fourni par la source)

Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards

Alexandra Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie H. Conta et autres

OBJECTIVE: To assess the impact on diagnostic yield and time to precise genetic diagnosis (PrGD) for children receiving genetic consultations in non-critical care settings after policy implementation allowing rapid exome sequencing (rES) and rapid genome sequencing (rGS) as first-line tests. STUDY DESIGN: …

us (code pays fourni par la source)

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

Joon‐Ho Yu, Katherine E. MacDuffie, Olivia M. Sommerland, Tesla Theoryn et autres

Whole-genome sequencing (WGS) as a diagnostic test offers children suspected of having a rare genetic condition and their families the best direct path toward securing a precise genetic diagnosis (PrGD). Yet, a limited supply and inequitable access to genetic services are impediments …

us (code pays fourni par la source)

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Lynn Wenger, Abbey A. Scott, Lukas Kruidenier, Megan C. Sikes et autres

Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because the complex inclusion criteria used to prioritize testing eligibility omit many patients at high risk for a genetic condition. SeqFirst-neo is a program to test whether …

us (code pays fourni par la source)

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Lynn Wenger, Abbey A. Scott, Lukas Kruidenier, Megan C. Sikes et autres

Summary Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because complex inclusion criteria used to prioritize testing eligibility omits many patients at high risk for a genetic condition. SeqFirst-neo is a program to test whether …

us (code pays fourni par la source)

P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Tara Lynn Wenger, Alexandra Keefe, Lukas Kruidenier, Megan C. Sikes et autres

Despite a high prevalence of genetic conditions among infants who are admitted to neonatal intensive care units (NICUs), there are multiple barriers that prevent critically ill infants from receiving a precise genetic diagnosis, particularly in underserved populations. The primary aim of SeqFirst-Neo …

us (code pays fourni par la source)

P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital

Abbey A. Scott, Lukas Kruidenier, Megan C. Sikes, Anita E. Beck et autres

As genomic testing has become faster, less expensive, and more accessible, its use in inpatient medical care has grown. Before May 2022, medical and biochemical geneticists at Seattle Children’s Hospital (SCH) were required to submit a written request for approval of rapid …

us (code pays fourni par la source)

P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield

Alexandra Keefe, Abbey A. Scott, Lukas Kruidenier, Megan C. Sikes et autres

Access to a precise genetic diagnosis for children admitted to hospitals for acute or chronic care is limited, but essential for appropriate medical care. Due to lengthy turnaround times and cost, inpatient testing was historically deferred to the outpatient setting, with inpatient …

us (code pays fourni par la source)