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Genetic Risk Prediction for Primary and Secondary Prevention of Atherosclerotic Cardiovascular Disease: an Update

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Last Posted: Apr 01, 2018

Using Genetic Risk Scores in the Prevention and Control of Common Diseases: Opportunities and Challenges

Announcement: Precision Medicine and Population Health Webinar|Events|Genomics|CDC
Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People

Precision Medicine and Population Health Webinar

Sponsors by
  • Precision Medicine and Population Health Interest Group, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health
  • Center for Translation Research and Implementation Science, National Heart, Lung and Blood Institute, National Institutes of Health
  • Office of Public Health Genomics, Centers for Disease Control and Prevention

Using Genetic Risk Scores in the Prevention and Control of
Common Diseases: Opportunities and Challenges

Wednesday May 9, 2018
3:00 – 4:00 pm ET
NCI Shady Grove Campus Room 2W030

Free Online Webinar
Registration is required. Register here. 


photo of Sekar Kathiresan
Sekar Kathiresan, M.D.
Associate Professor of Medicine, Director of the Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts


photo of Cecile Janssens
Cecile Janssens, Ph.D.
Professor of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia

  • Presentations. Each presenter will review current experiences; and evidentiary, economic, data sharing and infrastructure, and outcome data requirements needed to implement and measure success of genome sequencing in improving health. (20 minutes each; 40 minutes total)
  • Discussion and Q&As. Emphasis is on how the presented information should inform an implementation science agenda in genomic medicine. (20 minutes)

Common diseases are caused by a combination of genetic and environmental factors. In addition to finding rare genetic diseases with high individual and family risk, recent advances in genomics have enhanced our understanding of multiple genetic variants for these diseases. The contribution of multiple genes to most common diseases can be captured under the rubric of polygenic inheritance, in which additive effects of numerous genes create a normal distribution of disease risk in the population that can be quantified using additive genetic risk scores. There has been a recent surge in scientific interest and publications in using genetic risk scores to stratify people by level of risk and explore using this information in prediction, screening and control of common diseases. Using cancer and heart disease as potential applications, this webinar will explore recent findings, scientific opportunities and challenges in using genetic risk scores in the prevention and control of common diseases.
Relevant References
  1. Population-Based Precision Cancer Screening: A Symposium on Evidence, Epidemiology, and Next Steps. Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1449-1455.
  2. Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease. bioRxiv, 2018.
  3. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation. 2017 May 30;135(22):2091-2101.
  4. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358.
  5. How can polygenic inheritance be used in population screening for common diseases? Genet Med. 2013 Jun;15(6):437-43.
  6. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med. 2007 Aug;9(8):528-35.
  7. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet. 2008 Mar;82(3):593-9.

Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014) | Circulation

Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014) | Circulation

heart puzzle



Familial Hypercholesterolemia: An Unmet Public Health Need



Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014)

Emily M. BucholzAngie Mae RoddayKatherine KolorMuin J. KhourySarah D. de Ferranti

Abstract

Background—Familial hypercholesterolemia (FH) and other extreme elevations in low-density lipoprotein cholesterol significantly increase the risk of atherosclerotic cardiovascular disease; however, recent data suggest that prescription rates for statins remain low in these patients. National rates of screening, awareness, and treatment with statins among individuals with FH or severe dyslipidemia are unknown.
Methods—Data from the 1999 to 2014 National Health and Nutrition Examination Survey were used to estimate prevalence rates of self-reported screening, awareness, and statin therapy among US adults (n=42 471 weighted to represent 212 million US adults) with FH (defined using the Dutch Lipid Clinic criteria) and with severe dyslipidemia (defined as lowdensity lipoprotein cholesterol levels ≥190 mg/dL). Logistic regression was used to identify sociodemographic and clinical correlates of hypercholesterolemia awareness and statin therapy.
Results—The estimated US prevalence of definite/probable FH was 0.47% (standard error, 0.03%) and of severe dyslipidemia was 6.6% (standard error, 0.2%). The frequency of cholesterol screening and awareness was high (>80%) among adults with definite/probable FH or severe dyslipidemia; however, statin use was uniformly low (52.3% [standard error, 8.2%] of adults with definite/probable FH and 37.6% [standard error, 1.2%] of adults with severe dyslipidemia). Only 30.3% of patients with definite/probable FH on statins were taking a high-intensity statin. The prevalence of statin use in adults with severe dyslipidemia increased over time (from 29.4% to 47.7%) but not faster than trends in the general population (from 5.7% to 17.6%). Older age, health insurance status, having a usual source of care, diabetes mellitus, hypertension, and having a personal history of early atherosclerotic cardiovascular disease were associated with higher statin use.
Conclusions—Despite the high prevalence of cholesterol screening and awareness, only ≈50% of adults with FH are on statin therapy, with even fewer prescribed a high-intensity statin; young and uninsured patients are at the highest risk for lack of screening and for undertreatment. This study highlights an imperative to improve the frequency of cholesterol screening and statin prescription rates to better identify and treat this high-risk population. Additional studies are needed to better understand how to close these gaps in screening and treatment.
  • Received October 18, 2017.
  • Revision received January 18, 2018.
  • Accepted January 30, 2018.