Clinical Services Lab Overview

Personalized Genomic Sequencing

The HudsonAlpha Clinical Services Lab (CSL) offers personalized genomic sequencing and analysis for the identification of rare undiagnosed and misdiagnosed disease. HudsonAlpha Clinical Services Lab was established in 2015 in response to the growth of the field of genomic medicine and increased demand for sequencing.  Whole genome sequencing is performed on the Illumina HiSeq X Ten platform, which is CAP/CLIA approved for clinical use.

Advantages of the Clinical Services Lab

With the speed of genomic sequencing increasing at the same time as a rapid drop in pricing, whole genome sequencing (WGS) is rapidly becoming a preferred clinical laboratory test. Today,  whole genome sequencing can be used to identify variants linked to rare undiagnosed and misdiagnosed disease. Additionally, whole genome sequencing is being used in cancer cases, both in tumor profiling and in ascertaining familial risk. Research studies are currently evaluating the logistics, impact, ethics, and health ramifications of sequencing newborn babies at birth.

However, at this time, there are few CAP/CLIA laboratories able to offer whole genome sequencing through a clinical pipeline. The HudsonAlpha Clinical Services Lab provides high quality, state of the art whole genome sequencing with a turnaround time of 90 days for fully-interpreted results. Clinical grade technical genomes are also available. Our laboratory provides clinical laboratory testing for multiple genomic medicine programs across the nation and the world.

The HudsonAlpha Clinical Services Lab performs sequencing at 40x coverage. Our team, comprised of dozens of analysts, clinicians and informaticians, are internationally-renowned experts in their respective fields. The Illumina HiSeq XTen is the fastest sequencing platform available. The HudsonAlpha Clinical Services Lab was the first in the world to become CAP-accredited and CLIA certified for clinical sequencing of whole genomes.

Our analysis and interpretation pipeline was developed in-house and has become a model of the industry; our in-house development team is continually building, refining, and enhancing the existing pipeline to incorporate new genomic information and to provide the most nimble tools for genomic analysis.

The CSL is currently participating in the NIH’s Undiagnosed Disease Network as a sequencing core. This project has been funded in whole or in part with Federal funds from the National Institutes of Health, Department of Health and Human Services, Grant #7U01HG007943-02. Our work has been profiled in various news stories as a leader in the field:

Fully Automated, High Speed Sequencing Platform Developed

http://www.prnewswire.com/news-releases/edico-genome-and-hudsonalpha-collaborate-to-develop-fully-automated-high-speed-genomic-analysis-platform-300139666.html

Whole genome sequencing provider for the NIH Undiagnosed Disease Network

The HudsonAlpha Clinical Services Lab, in collaboration with Illumina, serves as the whole genome sequencing core for the Undiagnosed Disease Network (UDN), a National Institutes of Health-funded study to diagnosed rare and new diseases through the use of genomics and other advanced technologies.

Its purpose is to bring together clinical and research experts from across the U.S. to solve the most challenging medical mysteries for patients and their families, and to contribute to our understanding of how the human body works.

“There are millions of people in the United States living with an undiagnosed genetic disease. The Undiagnosed Disease Program is a resource for families who are looking for answers. Through whole genome sequencing, we can provide answers and help direct better treatments for those families, as well as broadening our knowledge and understanding of rare disease,” said Howard J. Jacob, PhD, principal investigator and executive vice president for genomic medicine at HudsonAlpha.

The ultimate goal is to form a national resource to diagnose both rare and new disease, advance laboratory and clinical research, enhance collaboration and coordination among researchers, and share resulting data and approaches throughout the scientific community.
The UDN is comprised of seven clinical sites, two sequencing cores, a coordinating center, and three other facilities.

So far, more than 300 patients have been accepted into the program for diagnosis. Another 300+ applications are under review.

The UDN sequencing center is supported by NIH grant U01 HG007493-02.

UPN