Clinical utility of genetic tests for thromboembolism

Clinical utility, in the context of the framework developed by the U.S. Task Force on Genetic Testing is considered as the balance of benefits to risks, and, thus, the Task Force recommended: “before a genetic test can be generally accepted in clinical practice, data must be collected to demonstrate the benefits and risks that accrue from both positive and negative results” (40). Originally, the Task Force contemplated as an aspect of the clinical utility also the assessment of the social and psychological benefits or harms of the genetic information, or, in other words, the ethical, legal and social implications of the genetic tests. However, this interpretation of the clinical utility was not accepted unanimously and successively it was proposed to list the psychosocial outcomes of testing in a different category called ELSI (Ethical, Legal and Social Implications) (41). The concept of clinical utility was subsequently developed by the major framework for the evaluation of genetic tests: the ACCE model. In this framework the clinical utility focuses specifically on the health outcomes (both positive and negative) associated with testing, taking into account the natural history of the clinical disorder and the availability and the effectiveness of interventions aimed at avoiding adverse clinical consequences (if no effective interventions are available, for example, testing may not be warranted) (42). A critical question to be answered before the introduction of a new DNA test is if there is an effective remedy, an acceptable action, or other measurable benefit. If the disorder of interest cannot be either treated or avoided, it is unlikely that justification can be made for routinely identifying it. Having an effective intervention to prevent or avoid the morbidity or mortality associated with the disorder (including risk-reducing behavior) is essential to address the decisions about the use of a test for population screening.