2013 Archived Content

SC15 Latest Advances In Molecular Pathology, Part II (Advanced) 

Monday, February 20 | 4:30 – 8:00 pm

This course is designed to educate practicing pathologists on the current molecular diagnostics technologies. This three part course is produced in collaboration between Cambridge Healthtech Institute and the College of American Pathologists.

Scientific Advisor:

Nazneen Aziz, Ph.D., Director of Molecular Medicine in the College of American Pathologists


4:30 Introduction, Opening Remarks and Dinner

4:50 Next-Generation Sequencing in Molecular Pathology

Wayne Grody, M.D., Ph.D., FCAP, FACMG, Professor, Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine.
Karl Voelkerding, M.D., FCAP, Associate Professor, Pathology, University of Utah; Medical Director, Advanced Technology and Bioinformatics, ARUP Laboratories.

The advent of massively parallel or “next generation” DNA sequencing has finally brought into reach the long-anticipated “Thousand Dollar Genome”, or the ability to sequence an individual’s entire genome at reasonable cost. Many are predicting that this achievement will supplant the single-gene genetic testing that largely comprises molecular medicine today. But if so, how will we handle the massive amounts of data produced, distinguish benign variants from pathologic mutations, and convey their clinical implications to doctors and patients?

This presentation will review:

• technical aspects, tremendous power and pitfalls of next-generation sequencing
• statistical and computational challenges in next-generation sequencing
• new challenges in test interpretation and genetic counseling
• potential applications in cancer, genetic disorders, and infectious diseases
• new requirements for informed consent
• risks of genetic discrimination
• impacts of gene patents, government regulation, and direct-to-consumer marketing

6:10 Dessert Break

6:30 Direct to Consumer Genetic Testing: Staying Ahead of Patients in this Current Trend

Nazneen Aziz, Ph.D., Director of Molecular Medicine in the College of American Pathologists

Recently, there is an explosion of genetic tests that are being sold directly to consumers. It is important for pathologists to stay well informed about these tests and be able to access the resources that help them evaluate the merits of these tests. This session will cover recent and relevant concepts behind the research, development and interest in Direct-to-Consumer (DTC) genetic tests for common complex diseases. The course will review some basic concepts and issues that are in the forefront of genomic medicine. Specific topics covered are:

Topics to be discussed:

• difference between monogenic and polygenic, complex diseases
• approach for discovering markers and developing genetic tests
• resources to evaluate the merits of Direct To Consumer (DTC) genetic tests
• examples of predictive tests for diseases and pharmacogenetics tests and controversies surrounding clinical validity and utility.

7:15 Coding and Reimbursement for Molecular Testing: New Developments and Interesting Times Ahead

Jeffrey A. Kant M.D., Ph.D., FCAP, Director, Division of Molecular Diagnostics, University of Pittsburgh Medical Center Health System

In 2012 the AMA CPT Editorial Panel will begin to institute revamped CPT coding for molecular tests in the areas of genetics and oncology in response to payer requests for greater transparency. This systemwill replace the current ‘stacking codes’ (83890-83914) and likely be fully in place by calendar year 2014. A number of other issues associated with reimbursement and new (especially molecular) technologies are actively being discussed within the molecular diagnostics community.

This presentation will review:

• The structure of the new molecular CPT coding system and molecular tests not affected by it
• Areas/tests likely to remain less than fully transparent in the new system
• Considerations associated with fee schedule placement and valuation of new molecular codes
• The testing community’s interest in payment for test development and ‘value’
• Challenges to payers in formulating coverage policies

8:00 Close of Course

Also review companion course: SC7 Latest Advances in Molecular Pathology, Part I (Basic) 

Recommended Symposia: Next-Generation Pathlogy  

Recommended Core Programs: Genomic Screening and Diagnosis, Translational Science   


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