Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.
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DOI：
10.1038/s41436-021-01225-7
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发表时间：
2021-10
期刊：
影响因子：
--
通讯作者：
Christensen KD
中科院分区：
文献类型：
--
作者：
Galbraith LN;Preys CL;Rehm HL;Scheuner MT;Hajek C;Green RC;Christensen KD
初级保健提供者(PCP)对不同临床意义(致病、不确定意义(VUS)或良性)的基因组二次发现(SFS)如何反应尚不清楚。我们随机挑选了148名美国家庭医生学会成员，回顾了三份对林奇综合征有不同意义的报告。参与者提供了关于他们将处理的后续行动的开放式答复，并将SF报告和其他五个主题按他们答复这些报告的优先顺序进行了组织(1=最高优先级，6=最低优先级)。PCP建议转诊致病变异体或VUS的频率高于良性变异体(72%比16%，p<；0.001)。PCP也更有可能处理进一步的检查，如结肠镜检查或EGD，以应对病理性变异或VUS，而不是良性变异(43%对4%，p<；0.001)。当PCP审查致病变异体和VUS(均为p>；0.46)时，解决转诊或进一步检查的可能性相似。SF报告在致病变异中的优先级最高(致病变异为2.7%，VUS为3.6%，良性变异为4.3%，均为p≤0.014)。结果表明，尽管初级保健医生认识到临床意义上的差异，但将VUS披露为SFS将显著增加下游医疗保健的利用率。
How primary care providers (PCPs) respond to genomic secondary findings (SFs) of varying clinical significance (pathogenic, uncertain significance (VUS), or benign) is unknown. We randomized 148 American Academy of Family Physicians members to review three reports with varying significance for Lynch syndrome. Participants provided open-ended responses about the follow-up they would address and organized the SF reports and five other topics in the order they would prioritize responding to them (1=highest priority, 6=lowest priority). PCPs suggested referrals more often for pathogenic variants or VUSs than benign variants (72% vs 16%, p<0.001). PCPs were also more likely to address further workup, like a colonoscopy or EGD, in response to pathogenic variants or VUSs than benign variants (43% vs 4%, p<0.001). The likelihoods of addressing referrals or further workup were similar when PCPs reviewed pathogenic variants and VUSs (both p>0.46). SF reports were prioritized highest for pathogenic variants (2.7 for pathogenic variants, 3.6 for VUSs, 4.3 for benign variants, all p≤0.014). Results suggest that while PCPs appreciated the differences in clinical significance, disclosure of VUSs as SFs would substantially increase downstream health care utilization.
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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：
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影响因子：
45.3
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
Sharp, Richard R.
影响因子：
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作者：
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通讯作者：
Allen, Nicole L.
DOI：
10.1038/gim.2015.187
发表时间：
2016-09
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Carey DJ;Fetterolf SN;Davis FD;Faucett WA;Kirchner HL;Mirshahi U;Murray MF;Smelser DT;Gerhard GS;Ledbetter DH
通讯作者：
Ledbetter DH