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Description
Diagnose and characterize diseases by analyzing DNA, RNA, and other molecular biomarkers in tissues and body fluids; direct molecular diagnostic testing and guide test selection and interpretation for patient care.
  • • Analyze and interpret NGS, PCR, Sanger, FISH, microarray, and RNA-seq results to detect clinically significant variants.
  • • Correlate molecular findings with histopathology and clinical data to refine diagnosis, prognosis, and therapy selection.
  • • Author and sign molecular pathology reports with methods, quality metrics, variant classification, and clinical significance.
  • • Apply ACMG/AMP/ASCO/CAP guidelines for germline and somatic variant interpretation and reporting.
  • • Validate and implement new molecular assays and laboratory-developed tests (LDTs).
  • • Oversee molecular laboratory operations, QA/QC, proficiency testing, and regulatory compliance (CLIA, CAP, state).
  • • Develop and maintain standard operating procedures and quality control documentation.
  • • Consult with clinicians on test selection, result interpretation, and targeted therapy or trial options; present at tumor boards.
  • • Communicate critical or actionable results promptly to care teams.
  • • Review and sign out oncology panels, hereditary disease tests, pharmacogenomic assays, infectious disease PCRs, and minimal residual disease studies.
  • • Direct specimen triage, nucleic acid extraction, library preparation, and run troubleshooting with laboratory staff.
  • • Collaborate with bioinformatics teams to optimize pipelines, review variant calls, and address data quality issues.
  • • Monitor assay performance and metrics, including sensitivity, specificity, limit of detection, and turnaround time.
  • • Educate residents, fellows, technologists, and clinicians in molecular diagnostics and test utilization.
  • • Conduct or support translational research and present or publish scientific findings.
  • • Keep current with advances in genomics, biomarkers, and therapeutics through literature and conferences.
  • • Manage and mentor molecular pathology staff and assess competencies.
  • • Ensure data security, patient privacy, and appropriate data sharing practices.
  • • Testify as an expert witness on molecular diagnostics when required.
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Tasks & skills: O*NET occupational data (work activities, skills, knowledge). Learn more
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Last reviewed: Jan 2026
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