Confusion in Germany about useful genetic testing

Because the testing of genetically determined high LDL cholesterol levels is already standard elsewhere, German Health Minister Karl Lauterbach (SPD) wanted to introduce screening for the most common dominant inherited cardiological disease after successful pilot tests as part of the Digimed Bayern project, which was co-designed by cardiological societies, and reaped a shitstorm – apparently the minister had not included the interest groups otherwise involved in draft legislation to the extent that they were used to and instead referred to the scientific facts.

These are very clear in the case of familial hypercholesterolaemia (FH). Early identification of LDL cholesterol-increasing mutations in the genes for the LDL cholesterol receptor responsible for its liver degradation or the genes Apo-B-100 and PCSK-9 and treatment of at-risk patients with statins significantly reduces the risk of heart attack and stroke as well as cardiovascular mortality.

Nevertheless, representatives of German health insurance funds and medical associations as well as benefit assessors were angry about the weakening of prevention through lifestyle changes, which naturally have a limited influence on genetic susceptibility in the case of FH. At EU level cardiology is not as strong perceived as cancer.

After the government postponed the adoption of the draft law in mid-August, IQWiG’s benefit assessors, who apparently felt ignored, have now come to the predictable conclusion that cascade screening promises a timely diagnosis of familial hypercholesterolaemia (FH) and thus treatment of patients at risk. Its experts now recommend targeted screening for the genetic defect in families that are already affected, which helps to reduce the costs of screening compared to population-wide screening. According to IQWiG.

These recommendations, which were previously made by the Herzallianz, an alliance of German cardiological societies, could now also lead to more than 1% of at-risk patients affected by the mutations being diagnosed in good time and treated with statins in Germany. ‘If the recommendation were implemented optimally, this would be a huge step forward compared to the current situation in combating the complications of this genetic disease,’ said Dr Veronika Sanin, head of the VRONI study from the team led by Prof. Dr Heribert Schunkert from the Heart Centre Munich, which began in Bavaria and has been extended to the states of Lower Saxony, Bremen and Hamburg. As part of the study, 22,000 children with elevated LDL cholesterol levels have been screened for the mutations as part of the U9 examination, i.e. between the ages of 5 and 14, and 55% of the 255 identified high-risk patients have already been treated with statins; treatment is planned for a further 15%.
It is known from scientific literature that screening as part of standard examinations identifies more high-risk patients in children than in 35- to 44-year-olds. This is because in the younger age groups, the mutation-related increase in LDL cholesterol levels is less affected by nutritional and hormonal effects than in adults. Schunkert and Sanin expect to detect 50% of those affected by the mutations 10 years after the introduction of screening. This could reduce the number of cardiovascular complications between the ages of 35 and 50 by 75%, according to studies from the Netherlands and the UK. In Germany, around 98% of parents are in favour of such a procedure, as the VRONI study shows.