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 …

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

To assess public attitudes and interest in pharmacogenetic (PGx) testing, we conducted a
random-digit-dial telephone survey of US adults, achieving a response rate of 42%(n= 1139). …

Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …

Purpose: To evaluate germline variants in hereditary cancer susceptibility genes among
unselected cancer patients undergoing tumor–germline sequencing. Experimental Design: …

Purpose: As genome-scale sequencing is increasingly applied in clinical scenarios, a wide
variety of genomic findings will be discovered as secondary or incidental findings, and there …

Purpose: While the diagnostic success of genomic sequencing expands, the complexity of
this testing should not be overlooked. Numerous laboratory processes are required to support …

Objective To assess the performance of a standardized, age-based metric for scoring clinical
actionability to evaluate conditions for inclusion in newborn screening and compare it with …

Aims: Pharmacogenetic (PGx) tests are intended to improve therapeutic outcomes through
predicting a patient's likelihood to respond to or experience an adverse effect from a specific …

Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many
individuals with suspected genetic disorders, but also yields negative or uncertain results for the …