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J. Pers. Med. 2019, 9(1), 9; https://doi.org/10.3390/jpm9010009

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

Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Landmark Center, 401 Park Drive Suite 401, Boston, MA 02215, USA
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Received: 2 January 2019 / Revised: 19 January 2019 / Accepted: 21 January 2019 / Published: 1 February 2019
(This article belongs to the Special Issue Genomic Medicine and Policy)
Full-Text   |   PDF [201 KB, uploaded 1 February 2019]

Abstract

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. View Full-Text
Keywords: implementation science; genetic testing; familial hypercholesterolemia; genomics; variants of unknown significance implementation science; genetic testing; familial hypercholesterolemia; genomics; variants of unknown significance
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Hendricks-Sturrup, R.M.; Lu, C.Y. Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States. J. Pers. Med. 2019, 9, 9.

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