A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia
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. Th...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-04-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/10/2/23 |
| _version_ | 1797570688264962048 |
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| author | Rachele M. Hendricks-Sturrup Jodi Clark-LoCascio Christine Y. Lu |
| author_facet | Rachele M. Hendricks-Sturrup Jodi Clark-LoCascio Christine Y. Lu |
| author_sort | Rachele M. Hendricks-Sturrup |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T20:28:42Z |
| format | Article |
| id | doaj.art-0916c3d584e54335996bd3f374b70a56 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-10T20:28:42Z |
| publishDate | 2020-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-0916c3d584e54335996bd3f374b70a562023-11-19T21:33:56ZengMDPI AGJournal of Personalized Medicine2075-44262020-04-011022310.3390/jpm10020023A Global Review on the Utility of Genetic Testing for Familial HypercholesterolemiaRachele M. Hendricks-Sturrup0Jodi Clark-LoCascio1Christine Y. Lu2Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02215, USAPallavi Patel College of Health Care Sciences, Nova Southeastern University, Fort Lauderdale, FL 33314, USADepartment of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02215, USAFamilial 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.https://www.mdpi.com/2075-4426/10/2/23hyperlipoproteinemia type IIfamilial hypercholesterolemia (FH)genetic testinghealth policyclinical utility |
| spellingShingle | Rachele M. Hendricks-Sturrup Jodi Clark-LoCascio Christine Y. Lu A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia Journal of Personalized Medicine hyperlipoproteinemia type II familial hypercholesterolemia (FH) genetic testing health policy clinical utility |
| title | A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia |
| title_full | A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia |
| title_fullStr | A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia |
| title_full_unstemmed | A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia |
| title_short | A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia |
| title_sort | global review on the utility of genetic testing for familial hypercholesterolemia |
| topic | hyperlipoproteinemia type II familial hypercholesterolemia (FH) genetic testing health policy clinical utility |
| url | https://www.mdpi.com/2075-4426/10/2/23 |
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