Purpose Advances in genomic research have facilitated rare disease diagnosis for
thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic …

Purpose: Despite recent attention to increasing diversity in clinical genomics research,
researchers still struggle to recruit participants from varied sociodemographic backgrounds …

Abstract Purpose The Alabama Genomic Health Initiative (AGHI) is a state-funded effort to
provide genomic testing. AGHI engages two distinct cohorts across the state of Alabama …

A call for an integrated approach to improve efficiency, equity and sustainability in rare disease
research in the United States | Nature Genetics Skip to main content Thank you for visiting …

Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses.
While clinical exome and genome sequencing represent an effective tool for many RD …

Background: Due to racial, cultural, and linguistic marginalization, some populations
experience disproportionate barriers to genetic testing in both clinical and research settings …

Abstract Background In the United States, rare disease (RD) is defined as a condition that
affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million …

Newborn screening started in the United States more than 50 years ago with testing for a
single genetic disorder (phenylketonuria). Today, newborn screening is a complex public …

Background About 30 million individuals in the United States are living with a rare disease,
which by definition have a prevalence of 200,000 or fewer cases in the United States …

Background Rare genetic variation in the human population is a major source of
pathophysiological variability and has been implicated in a host of complex phenotypes and …