Cascade genetic screening for familial hypercholesterolemia

Zusammenfassung der Studie

General context In Switzerland, there are about 40,000 individuals affected by familial hypercholesterolemia (FH), but only 15% of them are known. This condition is associated with an elevation of bad cholesterol (LDL-c) and increases the risk of cardiovascular disease occurring at a young age. Thus, it is expected that 5,000 patients with FH will suffer a cardiovascular event in the next 5 years in Switzerland. This underdiagnosis is a missed opportunity for prevention, and cascade screening of relatives could therefore help reduce cardiovascular risk. However, the implementation of a multicenter familial cascade screening program has never been tested in Switzerland. Direct contact by the physician with the family members of a patient without their consent is not possible. Aim and hypothesis Our objective is to test in a study across Switzerland whether cascade screening of the family members of a patient with FH using a centralized service promoting the direct approach will increase the detection rate of patients with FH. Secondary outcomes measured at one year include optimal use of lipid-lowering medications and control of LDL cholesterol levels.

(BASEC)

Untersuchte Intervention

The intervention component will consist of using a centralized computer system with the sending of messages to carry out three cycles of cascade screening of family members. Contact with relatives will be initiated by the index case and supported by a physician and a centralized service. The index case will receive an email or a WhatsApp message that they can then forward to their first-degree relatives. The email/message will contain a link to a secure web application with a code for login. The application will provide information on the mode of transmission of FH, the cardiovascular risk associated with FH, and how to reduce this risk. The relative can then fill in the information - first name, last name, email, relationship to the index case - and give their consent to be contacted for the study. The nearest specialized clinic will then contact the relative to arrange for a new screening.

(BASEC)

Untersuchte Krankheit(en)

familial hypercholesterolemia (FH)

(BASEC)

Sponsor

Swiss heart foundation

(BASEC)

Name der bewilligenden Ethikkommission (bei multizentrischen Studien nur die Leitkommission)

Ethikkommission Waadt

(BASEC)

Datum der Bewilligung durch die Ethikkommission

22.10.2020

(BASEC)

Ergebnisse der Studie