2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Pdf Summary

The SeqFirst project aims to improve access to genomic testing for hospitalized infants by simplifying workflows and improving provider readiness. In the first phase of the study, rapid whole genome sequencing (rWGS) was performed on infants whose clinical features were not fully explained by other factors. A survey was conducted to gather parental perspectives on receiving rWGS results for their infants.<br /><br />The majority of families whose infants received rWGS reported benefiting from it, regardless of whether a precise genetic diagnosis was established. No families expressed regret about testing, including those with secondary findings. Families with a precise genetic diagnosis through rWGS reported using the information for medical decision-making more often than families with nondiagnostic testing. However, a significant number of families with negative test results still reported that the result impacted their decisions about medical care. <br /><br />Out of the 126 infants tested, 28% had an explained diagnosis, 18% likely explained, 4% partially explained, 44% not explained, 5% had secondary findings only, 2% had negative WGS but another medical diagnosis. A total of 113 surveys were completed, representing 79% of the families surveyed.<br /><br />Key findings from the survey showed that the majority of families found rWGS to benefit their families and would choose to undergo the testing again, regardless of receiving a precise genetic diagnosis or not. Only one family reported rWGS as harmful, but they were in the nondiagnostic group.<br /><br />Overall, these findings suggest that rWGS is highly valued by families of hospitalized infants and has the potential to positively impact medical decision-making, even in cases where a precise genetic diagnosis is not achieved.

Asset Subtitle

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

Meta Tag

Genome sequencing

Co-Author Alexandra C. Keefe, MD, PhD

Co-Author Megan C. Sikes, MS, CGC

Co-Author Luke Kruidenier, MS CGC

Co-Author Joon-Ho Yu, PhD

Co-Author Kate McDuffie, PhD

Co-Author Olivia Sommers, MPH

Co-Author Heidi Gildersleeve, BS

Co-Author Abbey A. Scott, MS, CGC

Co-Author Chayna Davis, PhD

Co-Author Paul Kruszka, MD

Co-Author Kati Buckingham, BS

Co-Author Jessica Chong, 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 David L. Veenstra, PharmD, PhD

Co-Author Danny E. Miller, MD, PhD

Co-Author Katrina M. Dipple, MD, PhD

Co-Author Michael J. Bamshad, MD

Presenting Author Tara L. Wenger, MD, PhD

Keywords

SeqFirst project

genomic testing

hospitalized infants

rapid whole genome sequencing

provider readiness

parental perspectives

precise genetic diagnosis

medical decision-making

negative test results

survey findings