Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States
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 pathoge...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-02-01
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| Series: | Journal of Personalized Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4426/9/1/9 |
| _version_ | 1797761552161439744 |
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| author | Rachele M. Hendricks-Sturrup Christine Y. Lu |
| author_facet | Rachele M. Hendricks-Sturrup Christine Y. Lu |
| author_sort | Rachele M. Hendricks-Sturrup |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T19:14:40Z |
| format | Article |
| id | doaj.art-103942aedfee492280efc041a131c32f |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-12T19:14:40Z |
| publishDate | 2019-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-103942aedfee492280efc041a131c32f2023-08-02T05:36:07ZengMDPI AGJournal of Personalized Medicine2075-44262019-02-0191910.3390/jpm9010009jpm9010009Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United StatesRachele M. Hendricks-Sturrup0Christine Y. Lu1Precision 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, USAPrecision 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, USACardiovascular 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.https://www.mdpi.com/2075-4426/9/1/9implementation sciencegenetic testingfamilial hypercholesterolemiagenomicsvariants of unknown significance |
| spellingShingle | Rachele M. Hendricks-Sturrup Christine Y. Lu Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States Journal of Personalized Medicine implementation science genetic testing familial hypercholesterolemia genomics variants of unknown significance |
| title | Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States |
| title_full | Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States |
| title_fullStr | Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States |
| title_full_unstemmed | Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States |
| title_short | Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States |
| title_sort | understanding implementation challenges to genetic testing for familial hypercholesterolemia in the united states |
| topic | implementation science genetic testing familial hypercholesterolemia genomics variants of unknown significance |
| url | https://www.mdpi.com/2075-4426/9/1/9 |
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