title: Lost in Translation? Ethical Challenges of Implementing a New Diagnostic Procedure.
abstract: Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports.Empirical data demonstrate that there are significant "losses" in the respective translational processes, especially when the results from clinical research are to be translated into the clinical reality of NIPT (the so called "second roadblock" (T2)). These "losses" are perceived in the fields of knowledge transfer, professional standardization and ethical debate. Recommendations of professional organizations often fail to reach general practitioners. Blindsided by the new diagnostic procedure in their clinical practice, professionals in prenatal care express their insecurities with regard to its handling. Ethical debate appears to adhere to pre-existing (and partly already proven to be insufficient) normative frameworks for prenatal testing. While all of these deficits are typical for the implementation processes of many new molecular diagnostic procedures, especially in NIPT, they show a high variability between different nations.A critical assessment of the preferred strategy of implementation against the background of already existing national ethical frameworks is indispensable, if potential adverse effects are to be diminished. The described translational losses seem to be significantly reducible by granting the translational process in roadblock T2 more time.
authors.affiliation: Institute for History, Theory and Ethics in Medicine, Uniklinik RWTH Aachen, Wendlingweg 2, 52074, Aachen, Germany. daschmitz@ukaachen.de.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Schmitz
mesh_terms: D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000941:ethics / Q000379:methods*; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D057170:Translational Research, Biomedical / Q000941:ethics / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D000073839:Trisomy 13 Syndrome
chemical_list: D004247:DNA
keywords: Non-invasive prenatal testing; Prenatal diagnosis; Professional ethics; Translational research