Key Drivers of Family-level Utility of Pediatric Genomic Sequencing: a Qualitative Analysis to Support Preference Research

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2022 Nov 26

PMID 36434257

Authors

Hadley Stevens Smith

Emily S Bonkowski

Raymond Belanger Deloge

Amanda M Gutierrez

Alva M Recinos

Tara A Lavelle

David L Veenstra

Amy L McGuire

Stacey Pereira

Affiliations

Soon will be listed here.

Abstract

Given that pediatric genomic sequencing (GS) may have implications for the health and well-being of both the child and family, a clearer understanding of the key drivers of the utility of GS from the family perspective is needed. The purpose of this study is to explore what is important to caregivers of pediatric patients regarding clinical GS, with a focus on family-level considerations. We conducted semi-structured interviews with caregivers (n = 41) of pediatric patients who had been recommended for or completed GS that explored the scope of factors caregivers considered when deciding whether to pursue GS for their child. We analyzed the qualitative data in multiple rounds of coding using thematic analysis. Caregivers raised important family-level considerations, in addition to those specifically for their child, which included wanting the best chance at good quality of life for the family, the ability to learn about family health, the impact on the caregiver's well-being, privacy concerns among family members, and the cost of testing to the family. We developed a framework of key drivers of utility consisting of four domains that influenced caregivers' decision making: underlying values, perceived benefits, perceived risks, and other pragmatic considerations regarding GS. These findings can inform measurement approaches that better capture the utility of pediatric GS for families and improve assessments of the value of clinical GS.

Citing Articles

Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.

Smith H, Regier D, Goranitis I, Bourke M, IJzerman M, Degeling K Appl Health Econ Health Policy. 2025; .

PMID: 39832089 DOI: 10.1007/s40258-025-00945-0.

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

Smith H, Ferket B, Gelb B, Hindorff L, Ferar K, Norton M Pediatrics. 2023; 152(2.

PMID: 37470118 PMC: 10812387. DOI: 10.1542/peds.2022-060318.

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.

Smith H, Bonkowski E, Hickingbotham M, Deloge R, Pereira S Children (Basel). 2023; 10(5).

PMID: 37238322 PMC: 10217651. DOI: 10.3390/children10050774.

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