Translational Diagnostics Laboratory
A key goal of the Institute for Genome Sciences (IGS) is to facilitate the practice of “precision medicine” to improve treatment and outcomes for patients at UMMC/UMMS and throughout the region. The Maryland Genomics Translational Diagnostics laboratory (MGTDL) has been established as a CLIA-registered clinical laboratory (CLIA # 21D2261105). The MGTDL leverages the substantial technological expertise and genomics and bioinformatics infrastructure within Maryland Genomics and IGS to implement clinically useful, state-of-the-art clinical molecular diagnostic testing. The existing clinical infrastructure at Maryland Genomics has been enhanced by the addition of personnel with the expertise needed to develop and operate a CLIA/CAP accredited laboratory, including an experienced ABMGG-board certified clinical molecular geneticist as laboratory director. In addition to the broad array of ‘omics technologies currently employed by Maryland Genomics, the MGTDL laboratory uses an Illumina NextSeq 550Dx sequencer, and an Illumina iSCAN/GDA SNP microarray system to facilitate the development and deployment of a variety of testing for inherited and somatic disease diagnosis, risk prediction, and therapy selection and optimization. These platforms are complemented by HIPAA-compliant Laboratory IT systems (LIMS and LIS) designed for sample and data tracking in a clinical laboratory.
The availability of advanced genomic testing at MGTDL will broaden testing options and improve patient access to genomic testing services, and thus contribute to better patient care. Testing at MGTDL can (a) enable more efficient testing with lower TAT by reducing/eliminating sample transit times; (b) produce cost efficiencies by leveraging the high-throughput scale of the Maryland Genomics laboratory, potentially lowering health system costs for testing below those for comparable send-out options; (c) capture additional revenue, as insurance reimbursement pathways for genomic testing improve; (d) develop and provide local, accessible, and accountable expertise and consultation for healthcare providers and patients. The development of a robust clinical genomics laboratory infrastructure at MGTDL represents not only the opportunity to directly and positively impact patient care, but also to also enable, accelerate, and enhance clinical research and clinical trials capabilities at UMB/UMMC/UMMS.
In the coming months, the MGTDL will develop, validate, and deploy clinically validated assays for:
- Pharmacogenomic (PGx) testing for clinically validated drug-gene pairs,
- NGS-based testing (disease panels, and whole exome sequencing) for patients with suspected genetic disorders, which could significantly improve diagnostic sensitivity for rare diseases, and
- Somatic tumor profiling [aka Comprehensive Genomic Profiling (CGP)] for solid tumors.
- Non-invasive Prenatal testing (NIPT) a screening test for detection of certain fetal chromosomal abnormalities is also under consideration.
The selection of tests to be developed in the future will be guided by the input of clinical service leaders and practitioners in oncology, cardiology, neurology, and other stakeholders to develop tests optimized for UMMS patient needs. Such testing could include screening for inherited cancer predisposition screening, carrier screening for inherited disease/family planning decisions, polygenic risk scoring (PRS) for complex diseases such as coronary artery disease (CAD), and several types of cancer risk, and whole genome sequencing for rare disease.