… To address the pitfalls of incorporating severity into development of broad screening
programs, Lazarin et al. developed a classification algorithm that assigns severity (profound—4, …

Genetic disease is the leading cause of infant death in the United States, accounting for
approximately 20% of annual infant mortality. Advances in genomic medicine and technological …

Purpose: Recent developments in genomics have led to expanded carrier screening panels
capable of assessing hundreds of causal mutations for genetic disease. This new …

… Drs Haque, Kang, Evans, Goldberg, and Mr Lazarin are employees of Counsyl, a laboratory
providing expanded carrier screening. Dr Wapner reported receiving grants paid to his …

The aim of carrier screening is to identify prospective parents at risk of having a pregnancy
affected with an autosomal recessive or X‐linked disorder. Though minimal guideline‐based …

Professional guidelines dictate that disease severity is a key criterion for carrier screening.
Expanded carrier screening, which tests for hundreds to thousands of mutations …

… To compare actions among ARCs by disease severity, conditions were categorized by
severity according to the method described by Lazarin et al. For ARCs reporting that their …

Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to
determine reproductive risk. Data on the clinical utility of screening conditions beyond …

Purpose The recent growth in pan-ethnic expanded carrier screening (ECS) has raised
questions about how such panels might be designed and evaluated systematically. Design …

Background Rapid and easy COVID-19 diagnostic testing is essential to controlling the
pandemic and facilitating safe resumption of clinical care, employment and other social activities. …