Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

DNA-based screening in individuals without known risk factors potentially identifies those who may benefit from genetic counseling, early medical interventions, and/or avoidance of late or missed diagnoses. While not currently in widespread usage, technological advances in genetic analysis overcome barriers to access by enabling less labor-intensive and more cost-efficient means to discover variants of clinical importance. This study describes the technical validation of a 430-gene next-generation sequencing based assay, GeneCompass, indicated for the screening of healthy individuals in the areas of actionable health risks, pharmaceutical drug response, and wellness traits.

Validation of a multiplex genotyping platform using a novel genomic database approach.

Purpose: Technological advances now allow for multiplex platforms to simultaneously test many genetic conditions. Typically, such platforms are validated by assaying samples with known genotypes and/or phenotypes and/or with synthetic plasmids; however, these methods have limitations and with the inclusion of rarer diseases and mutations, we can no longer rely solely on them. We used a novel genomic database to validate an expanded genetic carrier screening platform.

Past performance of assisted reproduction technologies as a model to predict future progress: a proposed addendum to Moore's law.

The ultimate goal of IVF is to achieve healthy, single, live births following each single-embryo transfer. A timeline for this eventuality has never been defined. National implantation rates from 2003-2010 provided by the Society for Assisted Reproductive Technologies (SART) in the USA were evaluated.