Project Lead: Melanie Walter (Part1), Christoph Strohmaier (Part 2)
Authors: Melanie Walter, Christoph Strohmaier
Publication: November 2020
Language: English (with German summary)
Molecular genetic diagnostics (GDx) is an increasingly important tool in the so-called "precision medicine" and personalised health care, including organised screening programs. For a structured and controlled implementation of GDx, organisational-regulatory and ethical aspects, as well as far-reaching economic effects have to be considered in addition to efficacy and safety concerns.
The aim of the present report was to illustrate the general complexity of such (predictive) diagnostic tests and systematic test strategies using the example of familial hypercholesterolemia (FH).