Genomic Medicine has been identified as an Emerging Pratice in pathology by the CAP House of Delegates Action Group on Communications Regarding Pathology Practices. This page will serve as an up-to-date directory of resources regarding Genomic Medicine.

Genomic Medicine: Basic InformationEdit



  • Ten years after the successful sequencing of the Human Genome, we are at a point where personalized medicine, direct to consumer genomics, companion diagnostics and other applications of Genomics are evolving at an accelerated pace. These developments will bring about a new era in Medicine, with a unique opportunities and challenges.


  • As an integral component of personalized medicine, the fundamentals of genomic medicine require development, standardization, and integration of several critical tools into clinical practices, including health risk assessment, family health history, genome information, and clinical decision support.
  • Current practice models involve efforts mainly in the following areas:
    • 1) Prediction of disease susceptibility: Although it remains to be understood how genetic risk factors will contribute to clinical evaluations, the discovery of those risk factors will provide insights in our understanding of the biology of disease processes and offer therapeutic strategies for their prevention and treatment;
    • 2) Diagnosis and prognosis: Genome expression data on both genotype and phenotype are routinely applied in disease classification and subclassification, some of which are also used in prognostic stratifications and predicting therapeutic responses;
    • 3) Pharmacogenomics and predictive biomarker-guided therapies: as one of the most fertile areas of genomic medicine, advances in these areas allow optimization of individualized drug therapy, which significantly improve treatment outcomes.
    • 4) Monitoring: studies are currently undertaken using gene-expression profiling data to monitor and follow-up post-transplant patients.
  • Challenges in integration of genomic testing into clinical practice and required policy changes in reimbursement, regulation, and legislation.
  • Questions and challenges in personal genome scans


  • Generate value by identifying cost saving tests (e.g. HER-2, BCR-ABL) and avoid cost creating tests (e.g. risk markers)
    • Skeptical of risk markers
    • Lack of longitudinal accounting limits cost efficiency. (Although longitudinal “value proposition” may decrease high turnover)
    • Standards for test coverage are in flux
    • Physician incentives
    • Lack of information on long term efficacy
    • Pre-authorization models
  • Cost-effectiveness Information
    • Quantify incremental improvement in clinical and economic benefits provided as compared to the standard of care
  • Novel tests could be assigned temporary CPT codes that would allow billing and tracking of the test’s use and its effect on clinical decision making and outcomes
  • Scenario consistent with the coverage with Evidence Development: Coverage with Study Participation (CSP)
  • CMS rules for Medicare pertaining to “tests for screening… performed in the absence of signs, etc.”… would have to change to allow statutory exception
  • More effective pharmaceuticals manufactured by recombinant DNA
  • Your medical record will include your complete genome
  • Less treatment failures
  • Dramatic decrease in drug adverse reactions
  • Societal implications: Information availability and distribution
  • Gene therapy for single gene disease successful in 20 years
  • Ability to guide simple organ embryonic differentiation
  • Widespread applications in missing person’s cases, mistaken identity, paternity, etc.


  • Leverage Molecular Pathology and Genetics cluster expertise and develop several white papers on genomics. Focus not on technology, but legal, ethical and functional issues associated with the human genome.

Genomic Medicine: Links to Online ResourcesEdit

Please feel free to add any relevant links regarding Genomic Medicine to the list below (in alphabetical order).

ASCP Primer on Genomic Medicine for Pathology ResidentsEdit

CAP - Whole Genome Analysis InfoEdit

Dark Daily E-briefingsEdit

Sign up for these free brief email reports sent out by the Dark Report regarding various timely topics related to the practice of pathology, including genomics.


News and information about genomics.

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