Designing inclusive newborn sequencing research: insights from parents in underrepresented communities

TL;DR

This study explores how to make newborn genomic sequencing research more inclusive by understanding the perspectives of parents from underrepresented racial and ethnic groups.

Contribution

The paper provides insights and practical recommendations for designing inclusive genomic sequencing studies based on direct input from underrepresented parents.

Findings

Most parents from underrepresented groups expressed interest in participating in infant genomic sequencing research.

Parents wanted to receive all types of genetic results, including those with no immediate actionability.

Barriers to participation included discomfort with procedures, emotional stress, and concerns about study outcomes.

Abstract

It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand their perspectives on GS research, develop strategies to reduce barriers to enrollment, and facilitate research participation.

Semi-structured interviews with 50 parents from URG.

Nearly all parents said they would be interested in participating in an infant GS study. Parents were interested in participating in GS research for reasons including clinical utility, personal utility, and/or family health benefits. Deterrents to enrollment cited by parents were discomfort with enrollment procedures (e.g., not wanting a heel stick), limited emotional bandwidth, unfavorable perceptions of the study, and concerns about potential results. Most parents said they would want to receive all types of genetic results, including actionable and non-actionable, as well as childhood- and adult-onset.

Our findings demonstrate that parents from URG are interested in participating in GS research. Based upon these findings, we provide recommendations for designing GS studies that are responsive to their concerns.