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Exploring Cascade Screening for Familial Hypercholesterolemia

Austin, Mychaela (2021) Exploring Cascade Screening for Familial Hypercholesterolemia. Master Essay, University of Pittsburgh.

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Cardiovascular Disease (CVD) is a leading cause of death in the United States (National Center for Health Statistics, 2020). A genetic factor for CVD is Familial Hypercholesterolemia (FH), a disorder characterized by high levels of low-density lipoprotein cholesterol and premature onset of cardiovascular disease (Bouhairie et al., 2015). One method for diagnosing cases is through cascade screening, which entails contacting relatives of cases and screening them for FH. The Familial Hypercholesterolemia Foundation is a nonprofit organization dedicated to bringing about awareness of FH (Who Are We?: FH Foundation, 2021). The FH Foundation is currently exploring the development of an interstate cascade screening program for FH. They have chosen six states to investigate any legal barriers to such a program. This paper categorizes and analyzes select policies of California, New Hampshire, Minnesota, Pennsylvania, Texas, and Vermont that are relevant to the implementation of a cascade screening program. The policies in these states were categorized by whether they applied to communicable diseases, genetic information, privacy, and public health surveillance statutes. The categorization of these policies provides a guide for how a cascade screening program in the afore mentioned states would operate. The Behavioral Risk Factor Surveillance System 2019 survey data was utilized to observe the prevalence of high cholesterol in the US as well as potential disparities in screening and treatment between different demographic groups. Of the initial 418,268 respondents, 143,613 were asked if they had ever been told their blood cholesterol level was high. Of those asked, 63.84% reported ever being told they had high cholesterol. Of the women asked this question, 61% reported ever being told their blood cholesterol was high, compared to 66% of men asked this question. The difference may be indicative of the disparities described in the literature of statin use between men and women. The data demonstrates that high cholesterol is an issue of public health significance. A public health genetics program such as a cascade screening program targeting Familial Hypercholesterolemia could not only bring about awareness of the disorder but also target those potentially unaware of their need for cholesterol interventions.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Austin, Mychaelamya18@pitt.edumya18
ContributionContributors NameEmailPitt UsernameORCID
Committee Co-ChairDurst, Andreaadurst@pitt.eduadurstUNSPECIFIED
Committee MemberJin, Bonniebjin@pitt.edubjinUNSPECIFIED
Date: 25 May 2021
Date Type: Completion
Number of Pages: 72
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Public Health Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Date Deposited: 25 May 2021 21:08
Last Modified: 25 May 2021 21:08


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