Screening, Testing, or Personalized Medicine: Where do Inherited Thrombophilias Fit Best?

Inherited thrombophilias present an opportunity to review population-based screening paradigms. Inherited thrombophilias are a group of complex conditions, and women who carry mutations in implicated genes have an increased risk of adverse pregnancy outcomes as well as venous thromboembolism. That asymptomatic carriers are at risk of manifesting phenotypes moves these conditions out of the traditional molecular genetic "screening" paradigm. Like most complex disorders, residual risk remains after molecular testing for thrombophilia, and the magnitude of this risk has not been quantified. Family and personal history are important factors to consider when providing personal risk assessment to patients. Overall, "testing" for thrombophilias according to a personalized medicine model is more appropriate than population "screening" as performed in other mendelian genetic conditions.