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Implementing Primary Care Mediated Population Genetic Screening within an Integrated Health System
medRxiv - Genetic and Genomic Medicine Pub Date : 2020-07-17 , DOI: 10.1101/2020.07.16.20140228
Sean P David , Henry M Dunnenberger , Raabiah Ali , Adam Matsil , Amy A Lemke , Lavisha Singh , Anjali Zimmer , Peter J Hulick

Introduction Genetic screenings can have a large impact on enabling personalized preventative care. However, this can be limited by the primary use of medical history-based screenings in determining care. The purpose of this study was to understand the impact of DNA10K, a population-based genetic screening program mediated by primary care physicians within an integrated health system to emphasize its contribution to preventative healthcare. Methods Construction of the patient experience as part of DNA10K shaped the context for PCP engagement within the program. A cross-sectional analysis of patient consents, orders, tests, and results of nearly 10,000 patients within the primary care specialties of family medicine, internal medicine or obstetrics/gynecology between April 1, 2019 and January 22, 2020 was conducted. Results Across all specialties, a median number of 7.5 cancer and cardiovascular disease variants per PCP was found. The average age of the study population was 49.6 years. Over 8% of these patients had at least one actionable genetic risk variant and almost 2% of patients had at least one CDC Tier 1 variant. The median numbers of patients per PCP with either hereditary breast and ovarian cancer, Lynch Syndrome, or Familial Hypercholesterolemia was 1 (Interquartile Range 0-2). Discussion The analysis of test results and the engagement of an integrated healthcare system in the implementation of a genetic screening program suggests that it can have a large impact on population health outcomes and minimal referral burden to PCPs if identified risks can lead to preventative care.

中文翻译:

在综合卫生系统中实施以初级保健为媒介的人口遗传筛查

简介遗传筛查可以对实现个性化的预防护理产生重大影响。但是,这可能会受到基于病史的筛查在确定护理中的主要用途的限制。这项研究的目的是了解DNA10K的影响,DNA10K是一个由基层医疗医生在综合卫生系统中介导的基于人群的基因筛查程序,以强调其对预防保健的贡献。方法将患者体验作为DNA10K的一部分来构建,从而使程序中PCP参与的环境得以形成。在2019年4月1日至2020年1月22日之间,对家庭医学,内科医学或妇产科的初级保健专业中近10,000名患者的患者同意书,命令,测试和结果进行了横断面分析。在所有专业领域,每个PCP发现了7.5种癌症和心血管疾病变异的中位数。研究人群的平均年龄为49.6岁。这些患者中有8%以上具有至少一种可行的遗传风险变异体,几乎2%的患者具有至少一种CDC Tier 1变异体。每个PCP患有遗传性乳腺癌和卵巢癌,林奇综合征或家族性高胆固醇血症的患者中位数为1(四分位间距0-2)。讨论对测试结果的分析以及综合医疗保健系统在实施基因筛查计划中的参与表明,如果发现的风险可以导致预防性护理,它可能对人群健康结果产生巨大影响,并且对PCP的转诊负担最小。研究人群的平均年龄为49.6岁。这些患者中有8%以上具有至少一种可行的遗传风险变异体,而几乎2%的患者具有至少一种CDC Tier 1变异体。每个PCP患有遗传性乳腺癌和卵巢癌,林奇综合征或家族性高胆固醇血症的患者中位数为1(四分位间距0-2)。讨论对测试结果的分析以及综合医疗保健系统在实施基因筛查计划中的参与表明,如果确定的风险可以导致预防性护理,那么它可以对人群健康结果产生巨大影响,并且对PCP的转诊负担最小。研究人群的平均年龄为49.6岁。这些患者中有8%以上具有至少一种可行的遗传风险变异体,几乎2%的患者具有至少一种CDC Tier 1变异体。每个PCP患有遗传性乳腺癌和卵巢癌,林奇综合征或家族性高胆固醇血症的患者中位数为1(四分位间距0-2)。讨论对测试结果的分析以及综合医疗保健系统在实施基因筛查计划中的参与表明,如果发现的风险可以导致预防性护理,它可能对人群健康结果产生巨大影响,并且对PCP的转诊负担最小。每个PCP患有遗传性乳腺癌和卵巢癌,林奇综合征或家族性高胆固醇血症的患者中位数为1(四分位间距0-2)。讨论对测试结果的分析以及综合医疗保健系统在实施基因筛查计划中的参与表明,如果确定的风险可以导致预防性护理,那么它可以对人群健康结果产生巨大影响,并且对PCP的转诊负担最小。每个PCP患有遗传性乳腺癌和卵巢癌,林奇综合征或家族性高胆固醇血症的患者中位数为1(四分位间距0-2)。讨论对测试结果的分析以及综合医疗保健系统在实施基因筛查计划中的参与表明,如果确定的风险可以导致预防性护理,那么它可以对人群健康结果产生巨大影响,并且对PCP的转诊负担最小。
更新日期:2020-07-17
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