Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

Novel gene-disease discoveries, rapid advancements in technology, and improved
bioinformatics tools all have the potential to yield additional molecular diagnoses through …

Gene therapy holds promise as a life-changing option for individuals with genetic variants
that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA) …

Purpose Efforts have been made to standardize laboratory variant interpretation, but
clinicians are ultimately tasked with clinical correlation and application of genetic test results …

Population-based newborn screening (NBS) is among the most effective public health
programs ever launched, improving health outcomes for newborns who screen positive …

Purpose Genomic testing is routinely utilized across clinical settings and can have
significant variant interpretation challenges. The extent of genetic counselor (GC) …

As the number of genes associated with various germline disorders continues to grow, it is
becoming more difficult for clinical laboratories to maintain separate assays for interrogating …

Diagnostic laboratories gather phenotypic data through requisition forms, but there is no
consensus as to which data are essential for variant interpretation. The ClinGen …

With the rapid increase in publicly available sequencing data, healthcare professionals are
tasked with understanding how genetic variation informs diagnosis and affects patient health …

We present evidence from diverse disciplines and populations to identify the current and
emerging role of genomics in prevention from both medical and public health perspectives …