Introduction: Genetic screenings can have a large impact on enabling personalized preventive 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 preventive 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 preventive care.
Introduction: The CDC and Illinois Department of Public Health disseminated risk factor criteria for COVID-19 testing early in the pandemic. The objective of this study is to assess the effectiveness of risk stratifying patients for COVID-19 testing and to identify which risk factors and which other clinical variables were associated with SARS-CoV-2 PCR test positivity. Methods: We conducted an observational cohort study on a sample of symptomatic patients evaluated at an immediate care setting. A risk assessment questionnaire was administered to every patient before clinician evaluation. High-risk patients received SARS-CoV-2 test and low-risk patients were evaluated by a clinician and selectively tested based on clinician judgment. Multivariate analyses tested whether risk factors and additional variables were associated with test positivity. Results: The adjusted odds ratio of testing positive was associated with COVID-19-positive or suspect close contact (aOR 1.56, 95% CI 1.15-2.10), large gathering attendance with a COVID-19-positive individual (aOR 1.92, 95% CI 1.10-3.34), and, with the largest effect size, decreased taste/smell (aOR 2.83, 95% CI 2.01-3.99). Testing positive was associated with ages 45-64 and ≥65 (aOR 1.75, 95% CI 1.25-2.44, and aOR 2.78, 95% CI 1.49-5.16), systolic blood pressures ≤120 (aOR 1.64, 95% CI 1.20-2.24), and, with the largest effect size, temperatures ≥99.0°F (aOR 3.06, 95% CI 2.23-4.20). The rate of positive SARS-CoV-2 test was similar between high-risk and low risk patients (225 [22.2%] vs 50 [19.8%]; P = .41). Discussion: The risk assessment questionnaire was not effective at stratifying patients for testing. Although individual risk factors were associated with SARS-CoV-2 test positivity, the low-risk group had similar positivity rates to the high-risk group. Our observations underscore the need for clinicians to develop clinical experience and share best practices and for systems and payors to support policies, funding, and resources to test all symptomatic patients.
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.
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