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Oppurtunità per giovane medico

Si cerca giovane medico per ricerca clinica mirata ad un progetto di aterosclerosi (12-18 mesi), a seguire un abstract relativo al progetto.


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Implementation of cascade genetic screening for familial hypercholesterolemia in Switzerland: design of the CATCH randomized controlled trial
David Nanchen, Thomas von Känel, Nathalie Brun, Isabella Sudano, Hans Rickli, Georg Ehret, Grégoire Girod, Rosaria Del Giorno, Nicolas Rodondi, Jürg H. Beer, Augusto Gallino

Introduction - Cascade genetic testing for familial hypercholesterolemia (FH) is recommended by latest cardiovascular prevention guidelines. However, the large-scale implementation of FH cascade screening is challenging, and data remains scarce regarding the effectiveness of such programs.
Methods - Adults with a Dutch Lipid Clinic Network score of 6 or more points will be screened from several cardiovascular clinics in Switzerland. Once a monogenic mutation in one of the three genes causing FH - LDLR, APOB, and PCSK9, - will be identified, three cycles of screening will be possible to identify all family members. Compared to usual care, the intervention group will receive active support of the physician with prepared email or SMS to be sent by the index case to his relatives. The primary outcome will be the difference in the yield of detection of familial hypercholesterolemia (FH) between study groups.
Results - Statistical analysis indicates that 56 families will need to be included to show a significant difference of 20% in the consent rate between the control and interventional group. A study network of seven cardiovascular clinics has been opened in all linguistic regions of Switzerland with local Ethics approval. A central biobank of DNA sample has been created, with the potential to further explore unknown mutation among families with FH phenotype.
Conclusions - A large-scale cascade screening program involving a network of cardiovascular clinics in Switzerland will hopefully provide new evidence regarding clinical and public health effectiveness of genetic cascade screening for FH including societal awareness ,psycho-familial,and lifestyle aspects