• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by
germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor …

Clinical use of polygenic risk scores (PRS) will look very different to the more familiar
monogenic testing. Here we argue that despite these differences, most of the ethical, legal …

Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

As the understanding of the genetic etiology of childhood cancers increases, the need for
the involvement of experts familiar with the provision of genetic counseling for this …

Purpose As exome and genome sequencing (ES/GS) enters the clinic, there is an urgent
need to understand the psychological effects of test result disclosure. Through a Clinical …

Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …

Cascade predictive genetic testing is available for many families as a means to identify
individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular …

Professional consensus has traditionally discouraged predictive genetic testing when no
childhood interventions can reduce future morbidity or mortality. However, advances in …