在一个多元、多语言的人群中评估父母对儿科基因和基因组检测的个人效用。

IF 3.3 Q2 GENETICS & HEREDITY HGG Advances Pub Date : 2024-07-18 Epub Date: 2024-06-24 DOI:10.1016/j.xhgg.2024.100321
Priya N Marathe, Sabrina A Suckiel, Katherine E Bonini, Nicole R Kelly, Laura Scarimbolo, Beverly J Insel, Jacqueline A Odgis, Monisha Sebastin, Michelle A Ramos, Miranda Di Biase, Katie M Gallagher, Kaitlyn Brown, Jessica E Rodriguez, Nicole Yelton, Karla Lopez Aguiñiga, Michelle A Rodriguez, Estefany Maria, Jessenia Lopez, Randi E Zinberg, George A Diaz, John M Greally, Noura S Abul-Husn, Laurie J Bauman, Bruce D Gelb, Melissa P Wasserstein, Eimear E Kenny, Carol R Horowitz
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引用次数: 0

摘要

越来越多的证据表明,基因和基因组检测(GT)具有临床效用;然而,影响基因和基因组检测个人效用的因素仍不清楚,尤其是在多样化、多语言的人群中。我们对子女通过 NYCKidSeq 项目接受临床 GT 检测的父母/监护人(参与者)进行了调查。共有 847 名参与者完成了基线、结果披露后和结果披露后 6 个月 (6m) 的调查。最大的人口群体为西班牙裔/拉丁美洲人(a)(48%)、白人/欧美人(24%)和黑人/非洲裔美国人(16%)。个人效用采用个人效用量表(PrU)进行评估,该量表针对儿科人群进行了调整,并包含在调查中。通过因子分析确定了三个 PrU 子量表:实用效用、教育效用和父母心理效用。总体个人效用总分和三个分量表在收到结果后和随着时间的推移都明显下降。在所有时间点,西班牙裔/拉美裔(a)参与者的个人效用总分均高于欧裔美国人和非裔美国人(p
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Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.

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 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.

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来源期刊
HGG Advances
HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
4.30
自引率
4.50%
发文量
69
审稿时长
14 weeks
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