Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.
Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.
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DOI：
10.1161/circgen.121.003549
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发表时间：
2022-10
影响因子：
7.4
通讯作者：
Hao, Jing
中科院分区：
文献类型：
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作者：
Jones, Laney K.;Chen, Nan;Hassen, Dina A.;Betts, Megan N.;Klinger, Tracey;Hartzel, Dustin N.;Veenstra, David L.;Spencer, Scott J.;Snyder, Susan R.;Peterson, Josh F.;Schlieder, Victoria;Sturm, Amy C.;Gidding, Samuel S.;Williams, Marc S.;Hao, Jing
从人群基因组筛查项目中发现家族性高胆固醇血症（FH）基因组风险变异后，关于临床医生和参与者行为的信息有限。我们对具有FH风险变体的MyCode参与者进行了一项回顾性队列研究，从披露前2年开始，直至2019年1月16日。我们分析了降脂处方（临床医生行为），药物依从性（参与者行为）和LDL（低密度脂蛋白）胆固醇水平（健康结果影响）之前和之后的披露。数据来自电子健康记录和索赔。该队列包括96名平均年龄为57（22-90）岁的参与者，中位随访时间为14（范围，3-39）个月。大多数（90%）有高胆固醇血症的诊断，但没有具体的FH诊断前披露; 29%有FH诊断后披露。披露后，临床医生对38%的参与者进行了36次处方更改，其中大部分参与者没有达到预先披露的LDL胆固醇目标（81%）。然而，与披露前（81/96，84.4%）相比，披露后（71/96，74.0%）临床医生为更少的参与者开处方;大多数停药处方（23/25，92%）记录了副作用。在16名有索赔数据的参与者中，药物依从性有所改善（披露前70% [SD，24.7%]的天数比例为披露后79.1% [SD，27.3%]; P=0.05）。在52名（54%）在披露之前和之后都具有LDL胆固醇值的参与者中，平均LDL胆固醇从147 mg/dL降至132 mg/dL（P=0.003）。尽管披露了FH风险变异，但未开处方和不依从降脂治疗的比例仍然很高。然而，当临床医生加强药物治疗方案和参与者坚持药物治疗时，血脂水平下降。
Limited information is available regarding clinician and participant behaviors after disclosure of genomic risk variants for familial hypercholesterolemia (FH) from a population genomic screening program. We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. The cohort included 96 participants of mean age 57 (22–90) years with median follow-up of 14 (range, 3–39) months. Most (90%) had a hypercholesterolemia diagnosis but no specific FH diagnosis before disclosure; 29% had an FH diagnosis post-disclosure. After disclosure, clinicians made 36 prescription changes in 38% of participants, mostly in participants who did not achieve LDL cholesterol goals pre-disclosure (81%). However, clinicians wrote prescriptions for fewer participants post-disclosure (71/96, 74.0%) compared with pre-disclosure (81/96, 84.4%); side effects were documented for most discontinued prescriptions (23/25, 92%). Among the 16 participants with claims data, medication adherence improved (proportion of days covered pre-disclosure of 70% [SD, 24.7%] to post-disclosure of 79.1% [SD, 27.3%]; P=0.05). Among the 52 (54%) participants with LDL cholesterol values both before and after disclosure, average LDL cholesterol decreased from 147 to 132 mg/dL (P=0.003). Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.