The Molecular Genetics Pathology Laboratory, a section of the Department of Molecular Pathology, is responsive to the clinical molecular diagnostic needs of genetic-based medicine at Cleveland Clinic and the community. Our Section strives to provide molecular tests for a full range of indications spanning inherited and genetic disorders to pharmacogenomics including preventive, diagnostic, prognostic, therapeutic or predictive drug (safety and efficacy) use.
In most instances, in-house assays are developed and validated, and testing methodologies are improved for clinical use. State-of-the-art molecular techniques and technology for nucleic acid sequencing include polymerase chain reaction (PCR), real-time PCR, GeneScan® and sequencing by capillary electrophoresis, with next-generation sequencing and bead array to be added in the near future. In addition to standard-of-care tests, the MGP Laboratory actively promotes translational research and seeks opportunities to collaborate with clinical and research experts in areas of interest. Ultimately, MGP complements the efforts of the Department of Molecular Pathology in attaining excellence in patient care and service, education and research.
Tests to be in-sourced and developed are prioritized drawing from consultative meetings with clinical specialists, current test utilization patterns at Cleveland Clinic, and the commercial availability of DNA/RNA-based clinical laboratory tests. For each molecular test, considerations include clinical utility, ease of test adoption and test validation. In addition to its offerings and testing for more common genetic disorders, the MGP Section recognizes the value of developing tests for select rare conditions for which testing is not widely available. In-sourcing molecular tests not only facilitates access to laboratory experts but translates to significant cost savings from reducing test send-outs and decreased the turn-around time, which potentially improves the time-to-diagnosis and treatment resulting in reduced length of hospital stay and decreased disease morbidity.
In the past year, the MGP Section validated two sequencing-based assays, VWF exon 28 (von Willebrand disease type 2) and TTR (familial transthyretin amyloidosis). Other recently validated tests include PCR with fragment length analysis for FMR1-related disorders (fragile X syndrome, fragile X- associated tremor/ataxia syndrome and FMR1-related premature ovarian insufficiency) and SERPINA1 (alpha-1-antitrypsin) mutation screen. The transfer of these tests from our development core to laboratory operations is under way. The feasibility and logistics of DNA extraction, storage, retrieval and reporting are currently being addressed. Additional molecular diagnostic tests are in the pipeline.
The MGP Laboratory encourages appropriate utilization of nucleic acid based tests in the molecular diagnosis of genetic disorders for patients from various specialties of medicine. A team of laboratory and clinical experts aim to develop evidence-based algorithms for disease-related gene testing. Efforts to streamline and standardize test ordering and utilization, patient consenting, test validation and staff sign-out are under way.
The MGP Laboratory participates in the training and education of students, residents, fellows and house staff to support proper utilization and interpretation of molecular tests. The Fellowship Program in Molecular Genetic Pathology recently received three-year accreditation from the ACGME, to be implemented in July 2013.