The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

Abstract

Genetics and genomics have developed fast in the last decade, but have not revolutionized medicine, as some had expected. While translation of research findings to public health applications is lagging behind, direct-to-consumer (DTC) offers of genetic testing have become available, both for monogenic and severe genetic disorders and for genetic variants possibly associated with common complex diseases (susceptibility variants). The European Society of Human Genetics is concerned about the way in which commercial companies are currently introducing genetic tests into the market outside of the scope of the traditional health-care system. There is a sort of a paradox between the lagging implementation in health care of the few genetic tests with proven clinical utility, on the one hand, and the speedy DTC offer of tests, with or without clinical utility. To translate research findings into appropriate clinical applications, assessment of the clinical validity and utility is needed. Many of the parameters needed in assessment frameworks are not available yet. Clinically relevant associations between genetic variants and disease risks have been established, e.g., in oncogenetics and cardiogenetics, and can be used to reflect on the possibilities and obstacles in using the new genetics in public health. In the absence of sufficient information on clinical validity and clinical utility, introduction of genetic tests in common complex disorders is often premature. Priority should be given to settings where clinical utility is proven or likely, to gain additional information concerning diagnosis, prognosis, and disease management. Monitoring and evaluation are essential.