Population genomic screening: Ethical considerations to guide age at implementation.
Population genomic screening: Ethical considerations to guide age at implementation.
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人群基因组筛查：指导实施年龄的道德考虑。
DOI：
10.3389/fgene.2022.899648
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发表时间：
2022
影响因子：
3.7
通讯作者：
Fullerton SM
中科院分区：
文献类型：
--
作者：
Spencer SJ;Fullerton SM
目前，大多数基因检测涉及下一代测序或面板测试，这表明未来基于人群的筛查将涉及多种疾病风险的同时测试（这里称为“面板测试”）。基因组筛查通常集中在单一或相关疾病的群体，很少利用面板测试。此外，测试排序的最佳年龄很少涉及是否应该与成年年龄（18岁）或成年年龄（26岁）相一致。我们进行了一项伦理分析，使用了一个假设的“狭义”面板测试，包括CDC第1层基因组应用：家族性高胆固醇血症（FH），由于低密度脂蛋白（LDL）胆固醇水平升高而增加个体的心血管风险;遗传性乳腺癌和卵巢癌（HBOC），增加患癌症的终身风险;林奇综合征（LS），增加患结直肠癌的终身风险。我们进行了一个功利主义的分析，假设卫生系统寻求最大限度地为病人的效用。由于通过他汀类药物降低FH患者的胆固醇水平，在“成年年龄”进行筛查是FH的首选，可提供高终身获益和低风险。HBOC和LS首选“成年后”筛查，因为可进行有效监测，筛查活动建议从26岁开始，预防性干预措施与监测相关。我们还采用了一种补充的基于原则的方法，确定了相关的关注和权衡。考虑到临床、非临床和计划生育的影响，建议在26岁（而不是18岁）后进行狭义的小组测试。
Currently, most genetic testing involves next generation sequencing or panel testing, indicating future population-based screening will involve simultaneous testing for multiple disease risks (called here “panel testing”). Genomic screening typically focuses on single or groups of related disorders, with little utilization of panel testing. Furthermore, the optimal age for test ordering is rarely addressed in terms of whether it should coincide with the age of majority (18 years old) or after the age of majority (26 years old). We conducted an ethical analysis utilizing a hypothetical “narrow” panel test comprised of the CDC Tier 1 Genomic Applications: Familial Hypercholesterolemia (FH), increases individuals’ cardiovascular risk due to elevated low-density lipoprotein (LDL) cholesterol levels; Hereditary Breast and Ovarian Cancer (HBOC), increases lifetime risk of developing cancer; and Lynch Syndrome (LS), increases lifetime risk of developing colorectal cancer. We conducted a utilitarian analysis, on the assumption that health systems seek to maximize utility for patients. Screening at the “age of majority” is preferred for FH due to lowering FH patients’ cholesterol levels via statins providing high lifetime benefits and low risks. Screening “after the age of majority” is preferred for HBOC and LS due to availability of effective surveillance, the recommendation for screening activities to begin at age 26, and prophylactic interventions connected to surveillance. We also utilized a supplemental principlist-based approach that identified relevant concerns and trade-offs. Consideration of clinical, non-clinical, and family planning implications suggests narrow panel testing would be best deployed after 26 (rather than at 18) years of age.
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影响因子：
8.8
作者：
Dominguez-Valentin, Mev;Sampson, Julian R.;Moller, Pal
通讯作者：
Moller, Pal
DOI：
10.1038/gim.2013.113
发表时间：
2013-11
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：
1.9
作者：
Bensend, Tracy A.;Veach, Patricia McCarthy;Niendorf, Kristin B.
通讯作者：
Niendorf, Kristin B.
DOI：
10.1161/circgenetics.116.001381
发表时间：
2016-06
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
deGoma EM;Ahmad ZS;O'Brien EC;Kindt I;Shrader P;Newman CB;Pokharel Y;Baum SJ;Hemphill LC;Hudgins LC;Ahmed CD;Gidding SS;Duffy D;Neal W;Wilemon K;Roe MT;Rader DJ;Ballantyne CM;Linton MF;Duell PB;Shapiro MD;Moriarty PM;Knowles JW
通讯作者：
Knowles JW
影响因子：
5.5
作者：
Burke, Wylie;Tarini, Beth;Evans, James P.
通讯作者：
Evans, James P.