2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Clinician-reported Genetic testing Utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying Genome-wide Sequencing Utility in Neonatal Critical Care

Pdf Summary

The Clinician-reported Genetic testing Utility InDEx in the NICU (C-GUIDETM-NICU) is a tool developed to quantify the clinical utility of genome-wide sequencing (GS) in neonatal intensive care unit (NICU) settings. The aim of this study is to develop a modified version of C-GUIDETM-NICU that specifically focuses on the clinical utility of GS in the NICU. The research involved a scoping literature review to gather information on genetic testing, clinical utility, decision making, and clinical outcomes in NICU settings. Data on patient characteristics, GS methods, diagnostic rate, and change in clinical management were extracted from 25 studies. The literature review helped in defining and measuring clinical utility thematically. <br /><br />Based on the scoping literature review, a preliminary 21-item modified version of C-GUIDETM-NICU was drafted. To gauge the content validity and refine the draft, cognitive interviews were conducted with eligible clinicians who have experience with genetic testing in the NICU. The interviews, which were conducted virtually, focused on the relevance, comprehensibility, and comprehensiveness of the draft tool. Feedback from the interviews enabled the researchers to refine the tool further and conduct item-by-item and thematic analyses.<br /><br />The preliminary tool defines clinical utility in the NICU as a broad construct that encompasses diagnosis and diagnostic work-up, clinical management, prognosis and goals of care assessment, disposition planning, and family health and psychosocial functioning. The study also highlighted themes related to the perceived utility and disutility of GS in the NICU, including the impact of turn-around time, potential improvement in patient management, parental understanding, and social connection through support groups. Some challenges and concerns related to GS in the NICU, such as prolonged ICU stays and potential familial psychosocial harm, were also identified.<br /><br />The results of this study contribute to the development of a standardized method to quantify the clinical utility of GS in NICU settings. The modified C-GUIDETM-NICU tool will undergo further refinement through an international Delphi consensus process and validation testing at multiple clinical sites. Once validated, it will be available for use in assessing the clinical utility of GS in the NICU.

Asset Subtitle

Presenting Author - Lena Dolman, MD, MSc; Co-Author - Elise Poole, MSc; Co-Author - Joyce Yan, BScH; Co-Author - Stephanie Luca, MA; Co-Author - Wendy Ungar, MSc, PhD; Co-Author - Lauren Chad, MD; Co-Author - Martin Offringa, MD, PhD; Co-Author - Robin Z. Hayeems, PhD;

Meta Tag

Genetic Testing

Genome sequencing

Policy Issues

Psychosocial Counseling Issues

Sequencing

Co-Author Elise Poole, MSc

Co-Author Joyce Yan, BScH

Co-Author Stephanie Luca, MA

Co-Author Wendy Ungar, MSc, PhD

Co-Author Lauren Chad, MD

Co-Author Martin Offringa, MD, PhD

Co-Author Robin Z. Hayeems, PhD

Presenting Author Lena Dolman, MD, MSc

Keywords

Clinician-reported Genetic testing Utility InDEx in the NICU

C-GUIDETM-NICU

genome-wide sequencing

neonatal intensive care unit

clinical utility

genetic testing

decision making

clinical outcomes

patient characteristics

GS methods