Background Next-generation sequencing (NGS) technologies have seen variable adoption
in the clinic. This is partly due to a lack of clinical and economic studies, with the latter …

Endocrinopathies are uncommon etiologies of male factor infertility. The incidence of
primary hormonal disorders as the cause of male infertility ranges from less than 1% to 3 …

Objective This study aimed to perform an accurate and precise diagnosis for fetuses with
suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype …

In the years since the first human genome was sequenced at a cost of over $3 billion,
technological advancements have driven the price below $1,000, making personal genome …

Advances in genomics research have led to the development of polygenic risk scores, which
numerically summarize genetic predispositions for a wide array of human outcomes. Initially …

The benefit of reporting unsolicited findings in Next Generation Sequencing (NGS) related to
cancer genes in children may have implications for family members, nevertheless, could …

As expanded genome‐scale carrier screening becomes increasingly prevalent, patients will
face decisions about whether to receive results about a vast number of genetic conditions …

We examine key study design challenges of using stated-preference methods to estimate
the value of whole-genome sequencing (WGS) as a specific example of genomic testing …

Precision medicine–individualizing care for patients and addressing variations in treatment
response–is likely to be important in improving the nation's health in a cost-effective manner …

Developments in genomics are profoundly influencing medical practice. With broader use of
genetic and genomic testing across every aspect of the health care continuum, patients and …