Striving for a pragmatic contribution of biomarkers results to lifelong health care.

Abstract

The increased role of preventive medicine in healthcare and the rapid technological advancements, have deeply changed the landscape of laboratory medicine. In particular, increased investments in newborn screening tests and policies have been observed. Aim of this paper is to characterize how laboratory professionals engaged in clinical chemistry or newborn screening, in collaboration with experts in econometric, bioinformatics, and biostatistics may address a pragmatic use of laboratory results in the decision-making process oriented toward improvement of health care outcomes. The effectiveness of biomarkers on healthcare depends on several factors such as analytical performance, prevalence of the disease, integration of the test within thediagnostic algorithm, associated costs, and social/economic impact of false positive and false negative results. Cost-effectiveness analysis needs to be performed and reliability achieved, by overcoming analytical pitfalls andby improving interpretative criteria. These are challenging issues common to clinical chemistry and newborn screening tests. Following the experience in clinical chemistry, one of the main issues to be approached in newborn screening tests, is the lack of harmonization of results obtained by different methods and the limited healthcare effectiveness. The focus on prevention is a crucial opportunity for laboratory medicine to change how to approach the effectiveness of biomarkers on healthcare. The consolidation within clinical laboratories of professionals with different technical and methodological expertise coupled with the need to produce and manage large sets of data, require the cooperation of professionals from other disciplines to characterize the impact of the tests on epidemiological outcomes for health care policy making process.