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 …

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 …

The duty to warn genetically at-risk relatives of patients is one of the most misunderstood
legal and ethical issues affecting clinical genetics. The legal doctrines are often associated …

Background The use of lengthy, detailed, and complex informed consent forms (ICFs) is of
paramount concern in biomedical research as it may not truly promote the rights and …

We examined the Institutional Review Board (IRB) process at 9 academic institutions in the
electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic …

Background There is a growing support for the stance that patients and research participants
should have better and easier access to their raw (uninterpreted) genomic sequence data in …

Researchers conducting imaging, environmental health, and genetics studies have offered
participants their research findings for years, publishing data on this experience and …

The impact of returning secondary results from exome sequencing (ES) on
patients/participants is important to understand as ES is increasingly utilized in clinical care …

Precision medicine research is underway to identify targeted approaches to improving
health and preventing disease. However, such endeavors raise significant privacy and …

The expansion of genomic medicine is furthering our understanding of many human
diseases. This is well illustrated in the field of nephrology, through the characterization …