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Open AccessReview

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

1
Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02215, USA
2
Pallavi Patel College of Health Care Sciences, Nova Southeastern University, Fort Lauderdale, FL 33314, USA
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(2), 23; https://doi.org/10.3390/jpm10020023
Received: 18 February 2020 / Revised: 7 April 2020 / Accepted: 8 April 2020 / Published: 14 April 2020
(This article belongs to the Special Issue Personalized Medicine in Clinical Practice)
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. View Full-Text
Keywords: hyperlipoproteinemia type II; familial hypercholesterolemia (FH); genetic testing; health policy; clinical utility hyperlipoproteinemia type II; familial hypercholesterolemia (FH); genetic testing; health policy; clinical utility
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MDPI and ACS Style

Hendricks-Sturrup, R.M.; Clark-LoCascio, J.; Lu, C.Y. A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia. J. Pers. Med. 2020, 10, 23.

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