Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …

Clinical genetic testing has grown substantially over the past 30 years as the causative
mutations for Mendelian diseases have been identified, particularly aided in part by the …

Evidence-based guidelines on the use of genetic tests in clinical practice require a
systematic assessment of their usefulness, which, following a commonly used framework …

This paper explores the ethical implications of introducing non-invasive prenatal diagnostic
tests (NIPD tests) in prenatal screening for foetal abnormalities. NIPD tests are easy and …

The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the
most significant change in obstetric care for decades, with the advent of safer screening and …

Clinical genetic testing began over 30 years ago with the availability of mutation detection
for sickle cell disease diagnosis. Since then, the field has dramatically transformed to …

In evaluating the utility of human genome-wide assays, the answer will differ depending on
why the question is asked. For purposes of regulating medical tests, a restrictive sense of …

One of the key ambitions of neuroimaging-based pain biomarker research is to augment
patient and clinician reporting of clinically relevant phenomena with neural measures for …

Inherited genetic variations in pharmacogenetic loci are widely acknowledged as important
determinants of phenotypic differences in drug response, and may be actionable in the …

Aim: Genomic interventions could enable improved disease stratification and individually
tailored therapies. However, they have had a limited impact on clinical practice to date due …