TY - JOUR
T1 - Successful genetic screening and creating awareness of familial hypercholesterolemia and other heritable Dyslipidemias in the Netherlands
AU - Zuurbier, Linda C.
AU - Defesche, Joep C.
AU - Wiegman, Albert
N1 - Funding Information: The Netherlands is one of the few countries that is very active in FH screening. This could not have been realized without the involvement of the government as of the year 1994, who made it possible to perform pro-active home visits by specialized nurses (the so called genetic field workers) for genetic family screening, from the age of six years on. The program has evolved from a regional pilot research project funded by the Dutch Ministry of Health to full nationwide population screening, based on promising results in detecting and treating FH in adults. The cascade screening program was approved by the National Ethics Committee. Insurance companies promised not to charge penalties for having a mutation. On the contrary, they encouraged early detection and prevention. Privacy and other legal protection issues were well arranged in co-operation with the Ministry of Health. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021/8/1
Y1 - 2021/8/1
N2 - 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.
AB - 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.
KW - Cholesterol
KW - Dyslipidemia
KW - Familial hypercholesterolemia
KW - Genetic screening
KW - Lipids
UR - http://www.scopus.com/inward/record.url?scp=85112423620&partnerID=8YFLogxK
U2 - https://doi.org/10.3390/genes12081168
DO - https://doi.org/10.3390/genes12081168
M3 - Article
C2 - 34440342
SN - 2073-4425
VL - 12
JO - Genes
JF - Genes
IS - 8
M1 - 1168
ER -