The Children's Hospital of Philadelphia (CHOP) and BGI announced recently that the BGI@CHOP Joint Genome Center will soon begin to offer clinical next-generation sequencing (NGS) services through Children's Hospital's Department of Pathology and Laboratory Medicine in a CAP/CLIA-compliant environment.

The Clinical Laboratories Improvement Act of 1988 (CLIA) established quality standards for all laboratory testing to ensure the accuracy, reliability, and timeliness of patient test results regardless of where the test was performed. The College of American Pathologists (CAP) Laboratory Accreditation Program is widely recognized as the "gold standard," since it meets or exceeds CLIA requirements and serves as a model for various federal, state, and private laboratory accreditation programs throughout the world.

Supported by both institutions' infrastructure and extensive NGS experience, the BGI@CHOP Joint Genome Center was established in 2011 to advance the discovery of genes underpinning rare and common pediatric diseases. "This CAP-compliant NGS facility will enable us to rapidly expand into clinical NGS tests for diagnosis of specific diseases including heritable disorders and pediatric cancer," noted Catherine Stolle, PhD, director of CHOP's Molecular Genetics Laboratory.

The Joint Genome Center is presently equipped with five high-throughput sequencers, with plans to eventually scale up to 20 sequencers. The Center has embarked on a number of projects with CHOP researchers, including an NIH-funded project exploring the use of NGS in a clinical diagnostic setting, co-led by Ian Krantz, MD, and Nancy Spinner, PhD. BGI@CHOP's service portfolio includes human whole exome sequencing, targeted sequencing, whole genome re-sequencing, the availability of specialized applications such as ChIP-Seq, and NGS data analysis.

"By working together with the CHOP Pathology Department, we will be able to leverage our NGS expertise to help clinicians better diagnose and treat their patients. BGI will also be able to extend our services to support new drug development and pharmaceutical clinical trial studies in compliance with CAP and CLIA standards," said Dr. Jun Wang, executive director of BGI.

Read the full press release.