Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Introduction Next-generation sequencing (NGS) is transforming the conduct of genetic
research and diagnostic investigation. This creates new challenges as it generates …

BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS)
to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and …

Exome sequencing is being offered for children with undiagnosed conditions to identify a
primary (causative) variant. Parental preferences for learning secondary (incidental) variants …

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

Plain language summary Structural differences (congenital anomalies) in the makeup of the
baby's heart, brain and other organs are found on antenatal ultrasound scans in up to 3% of …

Objective The aim of the study is to study pregnant women's views on noninvasive prenatal
testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions …

As with all fields of medicine, the first step toward medical management of genetic disorders
is obtaining an accurate diagnosis, which often requires testing at the molecular level …

Whole-genome sequencing (WGS) reveals the genome of an individual including both rare
mutations and genes that have a role in the expression of common medical conditions. The …

Objective We conducted a survey‐based discrete‐choice experiment (DCE) to understand
the test features that drive women's preferences for prenatal genomic testing, and explore …