BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …

Purpose This study investigated the diagnostic utility of nontargeted genomic testing in
patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 …

Importance Pharmacogenomic (PGx) testing provides preemptive pharmacotherapeutic
guidance regarding the lack of therapeutic benefit or adverse drug reactions of PGx targeted …

Whole-genome sequencing and whole-exome sequencing have proven valuable for
diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a …

Purpose Alternative models of genetic counseling are needed to meet the rising demand for
genomic sequencing. Digital tools have been proposed as a method to augment traditional …

The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical
management. The study aimed to describe the type and cost of healthcare activities following …

Pharmacogenomic (PGx) tests represent significant advances in precision medicine. Our
aim was to explore perceptions following the return of PGx results, medication management, …

Background Children with medical complexity (CMC) are a priority pediatric population, with
high resource use and associated costs. Genome-wide sequencing is increasingly …

Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range
of health benefits to patients. Resource and capacity constraints pose a challenge to their …

Purpose Genome sequencing (GS) can aid clinical management of multiple pediatric
conditions. Insurers require accurate cost information to inform funding and implementation …