The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …

In clinical exome and genome sequencing, there is a potential for the recognition and
reporting of incidental or secondary findings unrelated to the indication for ordering the …

Over the past decade, scientists and ethicists began to feel that existing regulations for
oversight of human research did not align well with emerging practices and technologies …

As more research studies incorporate next-generation sequencing (including whole-
genome or whole-exome sequencing), investigators and institutional review boards face …

Introduction Genetic data from the Alzheimer's Disease Neuroimaging Initiative (ADNI) have
been crucial in advancing the understanding of Alzheimer's disease (AD) pathophysiology …

In the endeavour of biobank research there is dispute concerning what type of consent and
which form of donor–biobank relationship meet high ethical standards. Up until now, a …

Dynamic consent (DC) was originally developed in response to challenges to the informed
consent process presented by participants agreeing to 'future research'in biobanking. In the …

Biobanks play an increasing role in contemporary research projects. These units meet all
requirements to regard them as a one of the most innovative and up-to-date in the field of …