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  • Evaluating parental persona...
    Marathe, Priya N.; Suckiel, Sabrina A.; Bonini, Katherine E.; Kelly, Nicole R.; Scarimbolo, Laura; Insel, Beverly J.; Odgis, Jacqueline A.; Sebastin, Monisha; Ramos, Michelle A.; Di Biase, Miranda; Gallagher, Katie M.; Brown, Kaitlyn; Rodriguez, Jessica E.; Yelton, Nicole; Aguiñiga, Karla Lopez; Rodriguez, Michelle A.; Maria, Estefany; Lopez, Jessenia; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Wasserstein, Melissa P.; Kenny, Eimear E.; Horowitz, Carol R.

    HGG advances, 06/2024
    Journal Article

    There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a diverse cohort of parents/guardians (participants) whose children received clinical GT through the NYCKidSeq program. A total of 847 participants completed surveys at baseline, post-results disclosure, and 6 months (6m) post-results. The largest population groups were Hispanic/Latino(a) (48%), White/European American (24%), and Black/African American (16%). Personal utility was assessed using the Personal Utility (PrU) scale, adapted for pediatric populations and included on the surveys. Three PrU subscales were identified using factor analysis: practical, educational, and parental psychological utility. Overall personal utility summary score and the three subscales significantly decreased after receiving results and over time. Hispanic/Latino(a) participants identified greater overall personal utility than European American and African American participants at all time points (p < 0.001) as did participants whose children received positive/likely positive results compared with those with negative and uncertain results (post-results: p < 0.001 and p < 0.001; 6m post-results: p = 0.002 and p < 0.001, respectively). Post-results, higher utility subscale scores were associated with lower education levels (practical, parental psychological: p ≤ 0.02) and higher levels of trust in the healthcare system (practical, parental psychological: p ≤ 0.04). These findings help to understand the perspectives of diverse parents/guardians, which is critical to tailoring pre- and post-test counseling across a variety of populations and clinical settings. This study evaluated personal utility of pediatric genomic testing among a diverse cohort, identifying three domains: practical, educational, and parental psychological. Personal utility decreased over time. Sociodemographic factors including education, health literacy, and healthcare distrust significantly influenced personal utility. Understanding these factors is crucial for tailored counseling across diverse populations.