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.  

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 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. 

Our analysis and interpretation pipeline was developed in house and has become a model of the industry; our 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.

Our work has been profiled in various news stories as a leader in the field:

Fully Automated, High Speed Sequencing Platform Developed

Whole genome sequencing provider for the NIH Undiagnosed Disease Network 

The HudsonAlpha Clinical Services Lab, in collaboration with Illumina,  served as a 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, from 2015-2018. During this time, the CSL sequenced and performed analysis on hundreds of samples from patient participants, and ultimately diagnosed many of those individuals.

The purpose of the UDN 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 have provided answers and help direct better treatments for many families, as well as broadening our knowledge and understanding of rare disease.

The ultimate goal of the UDN 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 sequencing center has been supported by NIH grant U01 HG007493-04.