The past present and future of direct-to-consumer genetic tests

摘要

Technological advances in the field of human genetics have resulted in a wave of discoveries of common DNA sequence variants that are associated with a risk of common complex diseases, such as heart attack, that account for a substantial proportion of morbidity, mortality, and health care costs in most contemporary populations. The overall predictive power of these sequence variants can be considerable, due to the high incidence of these diseases and the sheer number of associations that have been discovered. Health care providers have been slow to utilize this knowledge for preventative medicine. However, several companies have taken on a translational role by offering genetic tests based on these discoveries direct to consumers. In this paper, we review the current state and future prospects of such genetic tests, as scientists involved both in the discovery of disease associations and the development of genetic tests.