Research Report 2019_20

Elaine Lyon, PhD, FACMG / HudsonAlpha Clinical Services Lab

Clinical sequencing helps solve undiagnosed diseases and end diagnostic odysseys

The rapid development and dramatic decrease in the cost of sequencing technologies have sparked a rise in the use of genomic testing in patient care. Next gener- ation DNA sequencing technologies, like whole-genome sequencing, are being used more frequently in clinical laboratories to scan the human genome in order to pro- vide diagnoses to patients with previously undiagnosed or misdiagnosed genetic disease. The HudsonAlpha Clinical Services Lab, LLC , (CSL) was established in response to this growth in personalized genomics to provide reliable, high-quality clinical genomic services.

The lab offers genomic services from an expanding test menu, and provides relevant diagnostic, prognos- tic, and therapeutic information to patients and physi- cians. In 2020, after extensive testing and quality control analysis, the CSL added targeted Sanger sequencing and the Global Screening Array (GSA) for pharmacog- enetic screening to their test menu, which complement the whole-genome sequencing. The GSA analyzes a pa- tient’s DNA for changes in genes associated with various drug responses. In 2021, the test menu will be further expanded to include next generation sequencing of tu- mor specimens and disease risk screening. The new oncology panels, which were designed with oncologist input, analyze genes known to be associated with in- creased cancer risk in tumor specimens. Physicians may elect to order clinical whole- genome sequencing for patients whose symptoms have defied diagnosis, or for whom a diagnosis doesn’t completely “fit” the symptoms of the disease. A re- cent case in which whole-genome sequencing from the CSL led to a diagnosis for a patient was published in The Clinical Chemist in 2020 1 . A 10-month-old child with an undiagnosed disorder characterized by facial dysmorphia, microcephaly, developmental delay, a platelet disorder, and several heart defects, was referred to the genetics clinic at Children’s of Alabama, where whole-genome sequencing was ultimately ordered.

Jamaica Gay in the CAP/CLIA lab

By using personalized genomic sequencing tech- nology, the CSL team, led by Elaine Lyon, PhD, FACMG, works with physicians and healthcare providers to solve undiagnosed or misdiagnosed genetic disease. It is one of only two dozen U.S. laboratories providing clinical whole genome sequencing and analysis. The sequenc- ing and interpretation pipeline used in the CSL is ac- credited by the College of American Pathologists (CAP) and certified through Clinical Laboratory Improvement Amendments (CLIA). These accreditations and certifica- tions ensure the lab continues to meet and exceed in- dustry standards for clinical laboratory testing.

Brett Sundorf setting up sequencing test


HudsonAlpha Institute for Biotechnology

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