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Faculty Disclosure In accordance with ACCME guidelines, any individual in a position to influence and/or control the content of this ASCP CME activity has disclosed all relevant financial relationships within the past 12 months with commercial interests that provide products and/or services related to the content of this CME activity. The individual below has responded that he/she has no relevant financial relationship(s) with commercial interest(s) to disclose: William K. Funkhouser, MD PhD
Molecular Pathology: The Future Wm. K. Funkhouser, MD PhD UNC Pathology & Lab Medicine
Our Future Pathology Practice will be: Citius - Faster Altius - Higher Fortius - Stronger
Faster Transfer from Discovery to Practice • Galen to Harvey: Millennium • Scurvy to citrus on ships: Century • PCN to production: Decades • HER2 amp, EGFR muts to Rx: Years • ASCO meets annually….
Faster Technology Automation of chemistry Miniaturization of chemistry Computer analysis of data
Faster Risk Estimates • For clinically unaffected individuals: • Etiologic mutation screening for couples • Etiologic mutation screening of relatives
Faster Diagnosis Molecular subtypes Specific translocations Germline etiologic mutations
Faster Prognosis • Hemochromatosis • A1AT deficiency • Cystic fibrosis • Medullary thyroid Ca in MEN2 • MMR-defective colorectal Ca
Faster Prediction of Therapeutic Response Individual differences in drug metabolism “Druggable” mutant protein kinases ID of resistance mutations
Faster Detection of Copy Number Variation Gene Amplification Allelic Loss Multiplex testing ISH
Faster Translocation Detection Metaphase spreads Locus-specific probes
Faster Sequence Variation Detection • Prenatal/Newborn screening • HLA loci • Germline vs. neoplasm muts • Fusion partners • Clonal Ig or TCR
Faster Epigenetic Testing Histone protein modification DNA promoter methylation Imprinting abnormalities
Faster RNA Abundance Cluster Analysis mRNAs µRNAs Their equilibria
Higher Complexity Multi-analyte tests Traits Statistics
Higher Confidence Risk prediction Diagnostic, prognostic, predictive Management guidance
Higher Productivity Timely reporting of accurate diagnoses with useful predictive data Prompt guidance of the treating clinician, particularly re. expensive targeted therapies
Stronger Associations Statistical associations Organizational associations
Stronger Opinions Education of lawyers, legislators, judges, and payors
Stronger Conclusions • Better diagnostic reproducibility • Better diagnostic accuracy • Better outcome prediction • Better management guidance
Going forward, Molecular Pathology will Improve our understanding of disease risk, etiology, pathogenesis, and outcomes Complement morphology Benefit our patients, our treating clinicians, and ourselves
Thanks to: Drs. Myers, Humphrey, DeYoung (ADASP Leaders) Drs. Eberhard, Sepulveda, and Pfeifer (Speakers) Drs. Gulley, Weck, Tsongalis, and Nowak (AMP) You, for participating in this ADASP meeting