需要数字解决方案来支持基因/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,一种双语数字应用程序,可促进GT结果的披露。NYCKidSeq随机对照试验招募了不同的神经系统儿童,心脏,和接受GTs的免疫条件。该试验通过将家庭随机分配到GUíA(干预)或标准护理(SOC)的遗传咨询中,评估了GUíA对理解GT结果的影响。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。调查措施评估了参与者对解释孩子GT结果的理解和信心以及客观理解的次要结果的主要研究结果。分析包括551个不同的参与者,270在GUíA臂和281在SOC。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[1.603,9.254],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对患有可疑遗传条件的儿童的不同父母对GT结果的理解产生了积极影响,并建立了利用GUíA提供复杂结果的案例。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。
Digital solutions are needed to support rapid increases in the application of genetic/genomic tests (GTs) in diverse clinical settings and patient populations. We developed GUÍA, a bilingual digital application that facilitates disclosure of GT results. The NYCKidSeq randomized controlled
trial enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GTs. The
trial evaluated GUÍA\'s impact on understanding the GT results by randomizing families to results disclosure genetic counseling with GUÍA (intervention) or standard of care (SOC). Parents/legal guardians (participants) completed surveys at baseline, post-results disclosure, and 6 months later. Survey measures assessed the primary
study outcomes of participants\' perceived understanding of and confidence in explaining their child\'s GT results and the secondary outcome of objective understanding. The analysis included 551 diverse participants, 270 in the GUÍA arm and 281 in SOC. 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 SOC. There was no impact on perceived confidence. Hispanic/Latino(a) individuals in the GUÍA arm maintained higher perceived understanding (OR = 3.9, CI[1.603, 9.254], 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. This
trial demonstrates that GUÍA positively impacts understanding of GT results in diverse parents of children with suspected genetic conditions and builds a case for utilizing GUÍA to deliver complex results. Continued development and evaluation of digital applications in diverse populations are critical for equitably scaling GT offerings in specialty clinics.