Implementation of routine predictive genetic testing for cardiovascular disease. Clinical application and ethical aspects.

Abstract

Cardiovascular diseases are the leading cause of death worldwide and are caused by a combination of genetic and environmental influences. Hence they have a great social and economic impact on our society. The onset and treatment of these diseases can be greatly influenced and controlled if it is known beforehand if a patient has a hightened risk to develop a CVD. In such cases it would be benifitial to reliably determine an individual’s risk to develop these diseases based on their genetic data using preventive genetic screening. Several published studies are discussed in this thesis that investigate the impact of adding genetic data to commonly used CVD risk prediction models. The addition of a SNP located in the Chr9p21.3 region that is strongly associated with a significantly higher risk for CVD surprisingly does not lead to an iprovement in predicting individual risk for developing CVD. This shows that based on genetic data alone it is difficult to predict risk for disease development. Because of its strong genetic association with CVD, addition of this SNP did help improve classification of persons into risk profiles, which could be beneficial for treatment.

Due to the development of next generation sequencing technologies and the possibility to sequence complete human genomes, it becomes more and more interesting to start using NGS based tests in the cinics for such purposes. However the complicated amounts of genomic data that are being generated in these tests are difficult to interpret and lead to a whole new series of complicated new technical and ethical issues. Due to the fear of genetic discrimination it is important that current rules and regulations are updated specifically for the purpose of genetic testing.