Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia A Pilot Study
Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia A Pilot Study
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DOI：
10.1161/circgen.118.002146
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发表时间：
2018-08-01
影响因子：
7.4
通讯作者：
Murray, Michael F.
中科院分区：
文献类型：
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作者：
Jones, Laney K.;Rahm, Alanna Kulchak;Murray, Michael F.
背景：MyCode社区健康倡议(MyCode)正在从整个外显子组测序中返回可操作的结果。家族性高胆固醇血症(FH)是一种以过早心血管疾病为特征的遗传性疾病。方法：我们使用多种方法评估了28名接受FH结果的MyCode参与者的护理。结果：对盖辛格初级保健提供者的23人进行了图表审查，发现4人(17%)达到了低密度脂蛋白胆固醇(低密度脂蛋白胆固醇)的目标(低密度脂蛋白胆固醇)
BACKGROUND: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease.METHODS: We used multiple methods to assess care in 28 MyCode participants who received FH results. Chart reviews were conducted on 23 individuals in the sample and 7 individuals participated semistructured interviews.RESULTS: Chart reviews for 23 individuals with a Geisinger primary care provider found that 4 individuals (17% of 23) were at LDL-C (low-density lipoprotein cholesterol) goal (of either LDL-C