Successful genetic screening and creating awareness of familial hypercholesterolemia and other heritable Dyslipidemias in the Netherlands
| Autor: | Albert Wiegman, Linda Zuurbier, Joep C. Defesche |
|---|---|
| Přispěvatelé: | Human Genetics, ACS - Atherosclerosis & ischemic syndromes, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Personalized treatment Familial hypercholesterolemia Review Disease 030204 cardiovascular system & hematology QH426-470 Diagnostic tools Hyperlipoproteinemia Type II 03 medical and health sciences 0302 clinical medicine Genetic screening medicine Genetics Humans Genetic Testing Genetics (clinical) Dyslipidemias Netherlands business.industry PCSK9 High-Throughput Nucleotide Sequencing Awareness medicine.disease Lipids 030104 developmental biology Cholesterol Dyslipidemia Family medicine Pharmacogenomics Christian ministry business |
| Zdroj: | Genes, Vol 12, Iss 1168, p 1168 (2021) Genes, 12(8):1168. Multidisciplinary Digital Publishing Institute (MDPI) Genes |
| ISSN: | 2073-4425 |
| Popis: | The genetic screening program for familial hypercholesterolemia (FH) in the Netherlands, which was embraced by the Dutch Ministry of Health from 1994 to 2014, has led to twenty years of identification of at least 1500 FH cases per year. Although funding by the government was terminated in 2014, the approach had proven its effectiveness and had built the foundation for the development of more sophisticated diagnostic tools, clinical collaborations, and new molecular-based treatments for FH patients. As such, the community was driven to continue the program, insurance companies were convinced to collaborate, and multiple approaches were launched to find new index cases with FH. Additionally, the screening was extended, now also including other heritable dyslipidemias. For this purpose, a diagnostic next-generation sequencing (NGS) panel was developed, which not only comprised the culprit LDLR, APOB, and PCSK9 genes, but also 24 other genes that are causally associated with genetic dyslipidemias. Moreover, the NGS technique enabled further optimization by including pharmacogenomic genes in the panel. Using such a panel, more patients that are prone to cardiovascular diseases are being identified nowadays and receive more personalized treatment. Moreover, the NGS output teaches us more and more about the dyslipidemic landscape that is less straightforward than we originally thought. Still, continuous progress is being made that underlines the strength of genetics in dyslipidemia, such as discovery of alternative genomic pathogenic mechanisms of disease development and polygenic contribution. |
| Databáze: | OpenAIRE |
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