Next generation genomic sequencing (NGS) technologies—whole genome and whole
exome sequencing—are now cheap enough to be within the grasp of many health care …

Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …

Stunning advances have been made over the last 5 years in the ability to rapidly and
inexpensively detect variation in the human genome. In the mid-2000s massively parallel …

(NGS) has transitioned from research to clinical use. 1 At least 14 countries have created
initiatives to sequence large populations (eg, All of Us, Genomics England), and it is …

Technological advances often outpace our ability to effec-tively use them, a situation that
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …

Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only
on the availability of new high-throughput sequencing technologies, but also on the …

We are entering an era in which the cost of clinical whole-genome and targeted sequencing
tests is no longer prohibitive to their application. However, currently the infrastructure is not …

The types of evidence needed to support the use of genome sequencing in the clinic varies
by stakeholder and circumstance. In this IOM series, seven individually authored …

The price of whole-genome and-exome sequencing has fallen to the point where these
methods can be applied to clinical medicine. Here, we outline the lessons we have learned …

It is now well recognized that there are many examples of human sequence variants that
had been considered pathogenic or likely pathogenic that have subsequently been …