Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
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DOI：
10.3390/jpm12111910
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发表时间：
2022-11-16
影响因子：
--
通讯作者：
Myers MF
中科院分区：
文献类型：
--
作者：
Blumling AA;Prows CA;Harr MH;Chung WK;Clayton EW;Holm IA;Wiesner GL;Connolly JJ;Harley JB;Hakonarson H;McGowan ML;Miller EM;Myers MF
目的：开展电子病历和基因组学(Emerge)第三阶段研究，以评估返回医学上可操作的基因组筛查结果的临床有效性。我们评估了在常染色体显性遗传条件下，通过可用的有效干预措施，致病/可能致病(P/LP)变异回归后的儿科临床结果。方法：两个Emerge III儿科网站收集结果数据，并在6个月和12个月时评估医疗管理的变化。结果：我们向29名参与者返回了P/LP结果和结果数据。对于29名参与者中的23名，P/LP结果以前是未知的。23名参与者中有5名已经因与P/LP变异体相关的情况而接受了跟踪调查。在那些收到新结果但没有因与P/LP结果相关的情况而被跟踪的患者(n=18)中，14人(77.8%)在结果返回后发生了医疗保健变化(ROR)。在ROR后，23例中有10例(43.5%)发生了对家庭成员的级联测试。结论：ROR后最常见的结果包括影像/实验室测试和健康行为建议。在那些在6个月内收到结果的人中，77.8%的人记录了医疗保健的变化。我们的发现表明，基因组筛查结果的返回如何影响儿科人群的医疗保健。
Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective interventions. Methods: The two eMERGE III pediatric sites collected outcome data and assessed changes in medical management at 6 and 12 months. Results: We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Conclusions: The most common outcomes post-RoR included imaging/laboratory testing and health behavior recommendations. A change in healthcare was documented in 77.8% of those receiving results by 6 months. Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
8.8
作者：
Yeung, Alison;Tan, Natalie B.;White, Susan M.
通讯作者：
White, Susan M.
影响因子：
2.4
作者：
Holm IA;Agrawal PB;Ceyhan-Birsoy O;Christensen KD;Fayer S;Frankel LA;Genetti CA;Krier JB;LaMay RC;Levy HL;McGuire AL;Parad RB;Park PJ;Pereira S;Rehm HL;Schwartz TS;Waisbren SE;Yu TW;BabySeq Project Team;Green RC;Beggs AH
通讯作者：
Beggs AH
影响因子：
--
作者：
Fossey, Robyn;Kochan, David;Kullo, Iftikhar J.
通讯作者：
Kullo, Iftikhar J.
影响因子：
7.4
作者：
Jones, Laney K.;Rahm, Alanna Kulchak;Murray, Michael F.
通讯作者：
Murray, Michael F.