Genetic Diagnostics for Familiar Hypercholesterolemia

Purpose and goal

The goal of the project was to "Develop, validate and make publicly available a reliable fast and cost-effective diagnostic method for FH throughout Sweden." This has been achieved. With our FH panel we detect mutations in about 35% of cases. An additional 10% is detected with sequencing. We have also found that only 36 mutations account for the majority of the positive cases. Other laboratories can use the data to develop methods for an initial analysis. Already today, the method is used by 18 clinics around Sweden. The guidelines from the National Board of Health can now be followed.

Expected results and effects

The goal is met. We now have a genetic diagnosis method for FH that is available throughout Sweden. The National Board of Health and Welfare´s recommendations can be used. Our method allows for early diagnosis of young FH patients who, with the usual clinical examination often are missed. This gives great benefits for the individual and society. Treatment is available that can prevent the development of the disease that if untreated can give heart attack at the age of 45-55. The method is inexpensive so healthcare can use it. We will also continue to work to further improve the analysis.

Planned approach and implementation

We divided the work into five different work packages: -Establishing a nationwide network of clinics working with FH. -Genetically analyze 1000 FH samples to obtain data to develop the method - Evaluate step two of the analysis method to get as accurate analysis possible. -Develop the workflow from patient contact to genetic analysis answer -Dissemination of knowledge to relevant healthcare institutions about the method. This approach has worked well and we have largely achieved the goals. We analyzed almost 100% more samples than planned, which gives us a very good decision basis.