■需要数字解决方案来支持遗传和基因组测试(GT)在不同临床环境和患者人群中的应用快速增长。我们开发了GUA,一个基于Web的双语平台,可促进GT结果的披露。NYCKidSeq随机对照试验评估了GUíA对理解GT结果的影响。
■NYCKidSeq招募了患有神经系统疾病的不同儿童,心脏,和接受GT的免疫条件。家庭被随机分配到GUíA(干预)或标准护理(SOC)遗传咨询的遗传咨询中,以披露结果。父母/法定监护人(参与者)在基线时完成调查,结果披露后,6个月后.调查措施评估了对解释孩子的GT结果的感知理解和信心的主要研究结果,以及客观理解的次要结果。我们使用回归模型来评估干预和研究结果之间的关联。
■分析包括551名参与者,270在GUíA臂和281在SOC。参与者的平均年龄为41.1岁,88.6%为母亲。大多数参与者是西班牙裔/拉丁裔(a)(46.3%),白人/欧洲裔美国人(24.5%),或黑人/非裔美国人(15.8%)。GUA组的参与者对结果的感知理解明显更高(OR=2.8,CI[1.004,7.617],P=0.049),并随着时间的推移保持更高的客观理解(OR=1.1,CI[1.004,1.127],P=0.038)与SOC臂中的那些相比。对感知的信心没有影响。西班牙裔/拉丁裔(A)个人在GUíA臂保持较高的感知理解(OR=3.9,CI[1.6,9.3],P=0.003),置信度(OR=2.7,CI[1.021,7.277],P=0.046),和客观理解(OR=1.1,CI[1.009,1.212],P=0.032)与SOC相比。
■该试验表明,GUíA对患有可疑遗传疾病的儿童的不同父母对GT结果的理解产生了积极影响。这些发现为利用GUA提供复杂且通常模棱两可的遗传结果奠定了基础。在不同人群中继续开发和评估数字应用对于在专科诊所公平扩展GT产品至关重要。
UNASSIGNED: Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitates disclosure of GT results. The NYCKidSeq randomized controlled
trial evaluated GUÍA\'s impact on understanding of GT results.
UNASSIGNED: NYCKidSeq enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GT. Families were randomized to genetic counseling with GUÍA (intervention) or standard of care (SOC) genetic counseling for results disclosure. Parents/legal guardians (participants) completed surveys at baseline, post-results disclosure, and 6-months later. Survey measures assessed the primary
study outcomes of perceived understanding of and confidence in explaining their child\'s GT results and the secondary outcome of objective understanding. We used regression models to evaluate the association between the intervention and the
study outcomes.
UNASSIGNED: The analysis included 551 participants, 270 in the GUÍA arm and 281 in SOC. Participants\' mean age was 41.1 years and 88.6% were mothers. Most participants were Hispanic/Latino(a) (46.3%), White/European American (24.5%), or Black/African American (15.8%). Participants in the GUÍA arm had significantly higher perceived understanding post-results (OR=2.8, CI[1.004,7.617], P=0.049) and maintained higher objective understanding over time (OR=1.1, CI[1.004, 1.127], P=0.038) compared to those in the SOC arm. There was no impact on perceived confidence. Hispanic/Latino(a) individuals in the GUÍA arm maintained higher perceived understanding (OR=3.9, CI[1.6, 9.3], P=0.003), confidence (OR=2.7, CI[1.021, 7.277], P=0.046), and objective understanding (OR=1.1, CI[1.009, 1.212], P=0.032) compared to SOC .
UNASSIGNED: This
trial demonstrates that GUÍA positively impacts understanding of GT results in diverse parents of children with suspected genetic conditions. These findings build a case for utilizing GUÍA to deliver complex and often ambiguous genetic results. Continued development and evaluation of digital applications in diverse populations are critical for equitably scaling GT offerings in specialty clinics.
UNASSIGNED: Clinicaltrials.gov identifier NCT03738098.