Errors in Genome Sequencing Result Disclosures: A Randomized Controlled Trial Comparing Neonatology Non-genetics Healthcare Professionals and Genetic Counselors

Authors

Tanner F Coleman
Jada Pugh
Whitley V Kelley
Kelly M East
Veronica Greve
Candice R Finnila
Ava Henson
Bruce R Korf
Gregory S Barsh
Gregory M Cooper
Meagan E Cochran

Language

English

Publication Date

9-1-2024

Journal

Genetics in Medicine

DOI

10.1016/j.gim.2024.101198

PMID

38943479

Abstract

Purpose: We compared the rate of errors in genome sequencing (GS) result disclosures by genetic counselors (GC) and trained non-genetics healthcare professionals (NGHPs) in SouthSeq, a randomized trial utilizing GS in critically ill infants.

Methods: Over 400 recorded GS result disclosures were analyzed for major and minor errors. We used Fisher's exact test to compare error rates between GCs and NGHPs and performed a qualitative content analysis to characterize error themes.

Results: Major errors were identified in 7.5% of disclosures by NGHPs and in no disclosures by GCs. Minor errors were identified in 32.1% of disclosures by NGHPs and in 11.4% of disclosures by GCs. Although most disclosures lacked errors, NGHPs were significantly more likely to make any error than GCs for all result types (positive, negative, or uncertain). Common major error themes include omission of critical information, overstating a negative result, and overinterpreting an uncertain result. The most common minor error was failing to disclose negative secondary findings.

Conclusion: Trained NGHPs made clinically significant errors in GS result disclosures. Characterizing common errors in result disclosure can illuminate gaps in education to inform the development of future genomics training and alternative service delivery models.

Keywords

Humans, Genetic Counseling, Health Personnel, Female, Infant, Newborn, Male, Disclosure, Whole Genome Sequencing, Neonatology, Genetic Testing, Errors, Genetic counselors, Genome sequencing, Non-genetics healthcare professionals, Result disclosure

Published Open-Access

yes

Recommended Citation

Coleman, Tanner F; Pugh, Jada; Kelley, Whitley V; et al., "Errors in Genome Sequencing Result Disclosures: A Randomized Controlled Trial Comparing Neonatology Non-genetics Healthcare Professionals and Genetic Counselors" (2024). Faculty, Staff and Student Publications. 5821.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/5821