2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-SeqFirst: impact of a precise genetic diagnosis on end-of-life decision making in the NICU

SeqFirst: impact of a precise genetic diagnosis on end-of-life decision making in the NICU

Pdf Summary

The SeqFirst project aims to improve access to genomic testing for critically ill infants in the hospital by simplifying testing workflows and improving provider readiness. This study analyzed the impact of a precise genetic diagnosis on end-of-life decision-making in a cohort of 126 newborns who underwent rapid whole genome sequencing (rWGS) as part of the SeqFirst project. The Electronic Health Record (EHR) of these infants was reviewed to understand parental decision-making on end-of-life care, discussions about the impact of the diagnosis on the anticipated length of life, anticipated medical complexity and neurocognitive outcome, and the circumstances surrounding the infant's critical illness and/or death.<br /><br />Of the 126 infants enrolled in SeqFirst, 69 received a precise genetic diagnosis (PGD). For families of infants with a PGD associated with early mortality, 18% elected to withdraw life-sustaining therapies to allow natural death. It was found that infants who enrolled in SeqFirst and later died were more likely to have received a PGD. The data challenges the assumption that the majority of families who receive these results choose to withdraw life-sustaining therapies for their child.<br /><br />Further work is needed to better understand how shared decision-making between families and providers progresses after receipt of a PGD and to examine the economic impacts of these decisions. Ongoing qualitative studies with families and providers involved in SeqFirst are being conducted to explore the factors influencing end-of-life decision-making.<br /><br />In conclusion, this study highlights the impact of a precise genetic diagnosis on end-of-life decision-making for critically ill infants. It shows the variety of trajectories that may be followed when infants receive a PGD associated with early mortality and challenges common assumptions about parental choices in these situations. This research has implications for improving access to genomic testing and guiding end-of-life care decisions for critically ill infants.

Asset Subtitle

Presenting Author - Alexandra C. Keefe, MD, PhD; Co-Author - Tara L. Wenger, MD, PhD; Co-Author - Joon-Ho Yu, PhD; Co-Author - Megan C. Sikes, MS, CGC; Co-Author - Luke Kruidenier, MS CGC; Co-Author - Abbey A. Scott, MS, CGC; Co-Author - Kate McDuffie, PhD; Co-Author - Olivia Sommers, MPH; Co-Author - Heidi Gildersleeve, BS; Co-Author - Chayna Davis, PhD; Co-Author - Paul Kruszka, MD; Co-Author - Kati Buckingham, BS; Co-Author - Jessica Chong, PhD; Co-Author - David L. Veenstra, PharmD, PhD; Co-Author - Kyle Retterer, MS; Co-Author - Kirsty McWalter, PhD; Co-Author - Amy Snook, BS; Co-Author - Jane Juusola, PhD, FACMG; Co-Author - Deborah Copenheaver, MS; Co-Author - Danny E. Miller, MD, PhD; Co-Author - Katrina M. Dipple, MD, PhD; Co-Author - Kyle B. Brothers, MD, PhD; Co-Author - Michael J. Bamshad, MD;

Meta Tag

Congenital Anomaly

Ethical Legal and Social Issues

Genetic Testing

Genome sequencing

Identification of Disease Genes

Sequencing

Co-Author Tara L. Wenger, MD, PhD

Co-Author Joon-Ho Yu, PhD

Co-Author Megan C. Sikes, MS, CGC

Co-Author Luke Kruidenier, MS CGC

Co-Author Abbey A. Scott, MS, CGC

Co-Author Kate McDuffie, PhD

Co-Author Olivia Sommers, MPH

Co-Author Heidi Gildersleeve, BS

Co-Author Chayna Davis, PhD

Co-Author Paul Kruszka, MD

Co-Author Kati Buckingham, BS

Co-Author Jessica Chong, PhD

Co-Author David L. Veenstra, PharmD, PhD

Co-Author Kyle Retterer, MS

Co-Author Kirsty McWalter, PhD

Co-Author Amy Snook, BS

Co-Author Jane Juusola, PhD, FACMG

Co-Author Deborah Copenheaver, MS

Co-Author Danny E. Miller, MD, PhD

Co-Author Katrina M. Dipple, MD, PhD

Co-Author Kyle B. Brothers, MD, PhD

Co-Author Michael J. Bamshad, MD

Presenting Author Alexandra C. Keefe, MD, PhD

Keywords

SeqFirst project

genomic testing

access to testing

provider readiness

rapid whole genome sequencing

precise genetic diagnosis

end-of-life decision-making

parental decision-making

life-sustaining therapies

shared decision-making