scholarly journals Genetic Testing Preferences and Intentions in U.S. Patients with Clinically Diagnosed Familial Hypercholesterolemia

2019 ◽  
Author(s):  
Hannah Wand ◽  
Amy C. Sturm ◽  
Lori Erby ◽  
Iris Kindt ◽  
William M. P. Klein
Keyword(s):  
Factor Analysis ◽  
Genetic Testing ◽  
Familial Hypercholesterolemia ◽  
Genetic Information ◽  
Ldl Cholesterol ◽  
Inverse Association ◽  
Mendelian Disorder ◽  
Factors Associated ◽  
Cholesterol Levels ◽  
The Us

ABSTRACTPurposeFamilial Hypercholesterolemia (FH) is a common Mendelian disorder characterized by elevated LDL cholesterol levels, which if untreated can cause premature heart disease. Less than 10% of cases in the US are diagnosed, and uptake of genetic testing is suboptimal. This study investigates decisionmaking factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH.MethodsClinically diagnosed adults with FH and no genetic testing were recruited through the FH Foundation and lipid clinics. Participants completed a survey containing items capturing various reasons to engage in genetic testing.ResultsExploratory factor analysis of survey items identified three factors: (1) aversion to FH genetic information, (2) curiosity regarding medical/family history, (3) and psychological reassurance. Psychological reassurance was, in turn, the only significant predictor of genetic testing intentions. The effect of reassurance was qualified by aversion such that the inverse association between aversion and genetic testing intentions was greater among those with low perceived reassurance.ConclusionFindings suggest that clinically diagnosed patients’ decisions about FH genetic testing are driven principally by psychological reassurance.

scholarly journals A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

2020 ◽  
Vol 10 (2) ◽  
pp. 23 ◽  
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Jodi Clark-LoCascio ◽  
Christine Y. Lu
Keyword(s):  
United States ◽  
Genetic Testing ◽  
Familial Hypercholesterolemia ◽  
Clinical Outcomes ◽  
Ldl Cholesterol ◽  
The United States ◽  
Global Perspective ◽  
Ongoing Research ◽  
Increased Risk ◽  
Patient Reported

Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that affects an estimated 1/250 persons in the United States and abroad. FH is hallmarked by high low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. This review summarizes recent global evidence showing the utility of FH genetic testing across diverse populations. Clinical and other qualitative outcomes following FH genetic testing were improved FH diagnosis, treatment initiation or continued treatment, treatment modification, improved total or LDL cholesterol levels, education on lifestyle management, and genetic counseling. This summary of evidence should be considered by those seeking overall evidence and knowledge gaps on the utility of FH genetic testing from a global perspective and for certain ethnic and age populations. These findings can be used to inform insurance policies and coverage decisions for FH genetic testing, policy recommendations to reduce the clinical and public health burden of FH, clinical practice and guidelines to improve the management of FH populations, and ongoing research involving FH genetic testing. We conclude that further investigations are needed to examine: (1) non-clinical outcomes following FH genetic testing; (2) patient-reported outcomes following FH genetic testing to convey patient experiences, values, and goals; and (3) clinical outcomes following FH genetic testing in non-Caucasian and pediatric populations in the United States and abroad.

scholarly journals Management of Familial Hypercholesterolemia: Current Status and Future Perspectives

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
David T W Lui ◽  
Alan C H Lee ◽  
Kathryn C B Tan
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldl Cholesterol ◽  
Genetic Disorder ◽  
Lipid Lowering ◽  
Current Status ◽  
Atherosclerotic Cardiovascular Disease ◽  
Inadequate Response ◽  
Cholesterol Lowering ◽  
Cholesterol Levels ◽  
Pubmed Database

Abstract Familial hypercholesterolemia (FH) is the most common monogenic disorder associated with premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment can significantly improve prognosis. Recent advances in the field of lipid metabolism have shed light on the molecular defects in FH and new therapeutic options have emerged. A search of PubMed database up to March 2020 was performed for this review using the following keywords: “familial hypercholesterolemia,” “diagnosis,” “management,” “guideline,” “consensus,” “genetics,” “screening,” “lipid lowering agents.” The prevalence rate of heterozygous FH is approximately 1 in 200 to 250 and FH is underdiagnosed and undertreated in many parts of the world. Diagnostic criteria have been developed to aid the clinical diagnosis of FH. Genetic testing is now available but not widely used. Cascade screening is recommended to identify affected family members, and the benefits of early interventions are clear. Treatment strategy and target is currently based on low-density lipoprotein (LDL) cholesterol levels as the prognosis of FH largely depends on the magnitude of LDL cholesterol-lowering that can be achieved by lipid-lowering therapies. Statins with or without ezetimibe are the mainstay of treatment and are cost-effective. Addition of newer medications like PCSK9 inhibitors is able to further lower LDL cholesterol levels substantially, but the cost is high. Lipoprotein apheresis is indicated in homozygous FH or severe heterozygous FH patients with inadequate response to cholesterol-lowering therapies. In conclusion, FH is a common, treatable genetic disorder, and although our understanding of this disease has improved, many challenges still remain for its optimal management.

scholarly journals Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States

2019 ◽  
Vol 9 (1) ◽  
pp. 9 ◽  
Author(s):  
Rachele Hendricks-Sturrup ◽  
Christine Lu
Keyword(s):  
United States ◽  
Genetic Testing ◽  
Familial Hypercholesterolemia ◽  
Ethnic Diversity ◽  
Heart Association ◽  
The United States ◽  
Cvd Risk ◽  
Implementation Challenges ◽  
The Us ◽  
Control And Prevention

Cardiovascular disease (CVD) is the leading cause of death in the United States (US), with familial hypercholesterolemia (FH) being a major inherited and genetic risk factor for premature CVD and atherosclerosis. Genetic testing has helped patients and providers confirm the presence of known pathogenic and likely pathogenic variations in FH-associated genes. Key organizations, such as the Centers for Disease Control and Prevention (CDC), American Heart Association (AHA), FH Foundation, and National Lipid Association (NLA), have recognized the clinical utility of FH genetic testing. However, FH genetic testing is underutilized in clinical practice in the US for reasons that are underexplored through the lens of implementation science. In this commentary, we discuss seven key implementation challenges that must be overcome to strengthen the clinical adoption of FH genetic testing in the US. These implementation challenges center on evidence of cost-effectiveness, navigating patient and provider preferences and concerns, gender and ethnic diversity and representation in genetic testing, and establishing clinical consensus around FH genetic testing based on the latest and most relevant research findings. Overcoming these implementation challenges is imperative to the mission of reducing CVD risk in the US.

Genetics and the Law

2021 ◽  
Author(s):  
Maxwell Mehlman ◽  
Sonia Suter
Keyword(s):  
Genetic Testing ◽  
Genetic Information ◽  
Ethical Issues ◽  
Genomic Analysis ◽  
State Level ◽  
The United States ◽  
Genetic Privacy ◽  
Duty To Warn ◽  
Us Congress ◽  
The Us

This chapter examines state and federal laws in the United States that govern legal and ethical issues concerning genetic and genomic analysis for diagnostic purposes; regulation of genetic testing, genetic discrimination, and privacy; and clinical applications of genomics. At the state level, legislatures have enacted laws in various areas, including newborn screening and nondiscrimination and privacy protections. In addition, state courts have addressed some issues concerning genetics, such as the duty to warn. At the federal level, the US Congress has enacted a specific statute, the Genetic Information and Nondiscrimination Act, which protects genetic information. Other federal statutes, which do not address genetics or genomics in particular, also have relevance in the genetics context, including laws that protect against certain forms of discrimination or that regulate laboratories. Federal agencies also play a role, for example, in protecting genetic privacy or regulating genetic tests. Finally, the US Constitution is relevant to genomics, especially concerning reproductive rights, which are pertinent to reproductive genetic testing.

scholarly journals Familial Hypercholesterolemia: Do HDL Play a Role?

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 810
Author(s):  
Juan Pedro-Botet ◽  
Elisenda Climent ◽  
David Benaiges
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldl Cholesterol ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
High Density Lipoproteins ◽  
Cholesterol Transport ◽  
Human Metabolism ◽  
High Cardiovascular Risk ◽  
Monogenic Disorder ◽  
Cholesterol Levels

Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects.

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