Clinical Assay Development
The Division of Precision and Computational Diagnostics (PCD) has a dedicated Research and Development (R&D) team which focuses on new clinical test development and revision/improvement of existing assays. The R&D team oversees test development for all four laboratories (Center for Personalized Diagnostics, Cytogenetics, Molecular Pathology, Rittenhouse Molecular Laboratory) within the PCD. For details on the testing conducted in each laboratory, please refer to the individual laboratory pages and the laboratory test service guide.
New and modified assays are common due to the rapid pace at which relevant molecular and cytogenetic discoveries and their application to clinical testing occurs. There is a formal process to request a new assay or modification to the clinical test menu. To make a request, fill out the New Test Request Form and submit. The development team, along with PCD faculty and operational and administrative staff, review each request. Once a decision has been reached, a formal response will be sent to the requestor. A Steering Committee determines the priority and scope of development work within the division.
New Test Request Form: PCD Clinical Test Development Request (Word doc)
Development Team
Sarah Herlihy, PhD
Assistant Director Assay Development
Caren Gentile, MS
Research and Development Coordinator
Corey Poveda-Rogers, PhD
Genomic Development Specialist
AmandaSue Landi, MS
Genomic Development Specialist
Braulio Cappas-Navarro, MPH, MB(ASCP)
Genomic Development Specialist
Abhimannyu Rimal, PhD
Genomic Development Specialist
Tanashree Kalghatgi, MS
Genomic Development Specialist
Kathrine Mcaulay, PhD
Molecular Microbiology Development Specialist*
*Rittenhouse Molecular Laboratory and Microbiology Laboratory
Laura Cowden, MS
Molecular Microbiology Development Specialist*
*Rittenhouse Molecular Laboratory and Microbiology Laboratory
Recent Publications
Laczko D, Poveda-Rogers C, Matthews AH, Snaith O, Luger S, Bagg A, Caponetti GC, Morrissette JJD, Yang G. RAD21 mutations in acute myeloid leukemia. Leuk Lymphoma 20:1-7, Mar 2024. doi: 10.1080/10428194.2024.2328233. Epub ahead of print. PMID: 38506144.
Nelson EJ, Gubbiotti MA, Carlin AM, Nasrallah MP, Van Deerlin VM, Herlihy SE. Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas. Mol Diagn Ther 27(3):371-381, May 2023. doi: 10.1007/s40291-022-00638-7. Epub 2023 Jan 23. PMID: 36690887; PMCID: PMC9870658.
Poveda-Rogers C, Morrissette JJD. Greater expectations: meeting clinical needs through broad and rapid genomic testing. Clin Chem Lab Med 61(4):654-661, Dec 2022. doi: 10.1515/cclm-2022-1016. PMID: 36473133.
El-Sharkawy F, Tang CN, Fitzgerald AS, Khatib LA, Graham-Wooten J, Glaser L, Collman RG, Van Deerlin VM, Herlihy SE. Saliva versus Upper Respiratory Swabs: Equivalent for Severe Acute Respiratory Syndrome Coronavirus 2 University Screening while Saliva Positivity Is Prolonged After Symptom Onset in Coronavirus Disease 2019 Hospitalized Patients. J Mol Diagn 24(7):727-737. doi: 10.1016/j.jmoldx.2022.03.012. Epub 2022 Apr 27. PMID: 35489695; PMCID: PMC9044746.
Herlihy SE and Gentile C. A Penndemic Year in Review. Adv Mol Path 4: 205-216, 2021. doi: 10.1016/j.yamp.2021.06.007.
Recent Abstracts/Presentations
Good AL*, Morgan KM*, Rabut E, Herlihy SE, and Yang G. Incorporation of Parameters to Corroborate Variant Calling by a Proprietary Algorithm for an IDH1/2 PCR Assay. Presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Good AL, Bigeli A, Gentile C, Priore SF, Van Deerlin VM. Optimizing Interpretive Criteria for Clonality Assessment in T-cell Receptor Gamma Gene Rearrangement Studies by Next-Generation Sequencing. Presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Herlihy SE, Gentile C, Lieberman D, Milano J, Priore SF, Roth JJ. Establishing a Pathway for Utilization of Clinical Laboratory Resources for Research Studies and Clinical Trials. Presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Landi A, Chaum M, Rushton C, Gentile C, Roth JJ, Herlihy SE, Priore SF. Technical Considerations and Challenges of Validating a Clinical Anchored Multiplex NGS Based Assay for Known and Novel Fusion Detection in Cancer. Presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Poveda-Rogers C, Ni V, Corine, J, Morrissette JJD, and Yang G. Features of loss-of-function, SYK-mutated advanced melanoma. Abstract presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Poveda-Rogers C, Landi A, Chitturi A, Priore SF, Roth JJ, and Herlihy SE. Quality control of a new probe lot for a laboratory developed hybrid capture NGS assay. Abstract presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Corines J, Ni V, Poveda-Rogers C, Morrissette JJD, and Yang G. CDH1 is an uncommon but recurrent tumor suppressor gene mutated in advanced prostate cancer. Abstract presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Chitturi, A, Lieberman, DB, Poveda-Rogers C, Roth JJ, Herlihy SE, Morrissette JJD, and Priore SF. Creation of an automated VCF positive control truth set to facilitate quality control review. Abstract presented at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT, 2023.
Corines J, Bigdeli A, Herlihy SE, Priore SF, Roth JJ. Gene-Specific Validation of Copy Number Gains from a Massively Parallel Sequencing Assay. Abstract presented at the Association for Molecular Pathology Annual Meeting, Phoenix, AZ, 2022.
Rogers-Poveda C, Ngong Tang C, Cowden L, Herlihy SE, Rodino KG. Validation of COVIDSeq: An NGS-Based Assay to Identify SARS-CoV-2 Variants. Abstract presented at the Association for Molecular Pathology Annual Meeting, Phoenix, AZ, 2022.
Validating An Automated, Multiplexed NGS Assay For Rapid Turnaround Time. Corey Poveda-Rogers. Biomarkers Congress; 2022. London, UK.
Attaway CC, Richard-Greenblatt M, El-Sharkawy Navarro F, Herlihy SE, Gentile C, Morris B, Collamn RG, Abella B, Glaser LJ. Comparison of Saliva and NP Swabs for SARS-CoV-2 Detection in an Emergency Department and Ambulatory Testing Locations. Presented at American Society for Clinical Pathology Annual Meeting, Boston, MA, 2021.
Nelson N, Priote SF, Sondermann JN, Herlihy SE, Watt CD. Evaluation of positive control material for MGMT promoter methylation studies. Abstract presented at the Association for Molecular Pathology Annual Meeting, virtual, 2021.