Precision Medicine

The Personalized Health Care Committee presents resources which focus on emerging areas of precision medicine. This includes brief, relevant articles by CAP members that enable the reader to gain a better understanding of a particular area of precision medicine. Examples include pharmacogenetics, immune response genes, and the latest in the molecular drivers of cancer. Articles often include curated references so readers may learn more about a particular subject area.

We hope you find these resources useful, and if you have ideas for topics you would like to learn more about please do not hesitate to email us.

– Matthew W. Anderson MD, PhD, FCAP and Jordan S. Laser, MD, FCAP on behalf of the Precision Medicine Resource Center project team

The following articles and presentation were developed by members of the Personalized Health Care Committee and cover a variety of precision medicine topics.

• Modern Genomic Profiling in Myeloid Disorders and Acute Leukemia: A Practical Approach; Pranil K. Chandra, DO, FCAP
• Rapid Molecular Panels for the Identification of Bloodstream Pathogens; Franklin R. Moore, MD, PhD, FCAP
• Going Beyond Driver Mutations in Myeloproliferative Neoplasms; Nina Haghi, MD, FCAP
• Clinical Implementation of Pharmacogenomic Testing; Ann M. Moyer, MD, PhD, FCAP
• Utilization Management; Jordan S. Laser, MD, FCAP
• Next-Generation Sequencing for HLA Genotyping; Matthew W. Anderson, MD, PhD, FCAP   
• The 'Liquid' Biopsy; Damon R. Olson, MD, FCAP
• Short Presentation on Emerging Concepts: PD-L1: Immune Check Point Blockade in Cancer
• Short Presentation on Emerging Concepts: HER2 Testing in Gastric/GEJ Adenocarcinoma

Next Generation Sequencing (NGS) Worksheets

Next Generation Sequencing worksheets, or NGS worksheets, focus on variant detection in the setting of inherited disease and provide a structured framework to guide the user through the entire life cycle of an NGS test. Each of the NGS worksheets contain background, instructions, and step-by-step guidance with examples for the different phases of NGS test development and implementation.
The five worksheets are:

Test Content Design

Focuses on the strategic considerations that a clinical laboratory director may consider prior to test development. 
Download the Test Design NGS worksheet 

Test Optimization

Translates the test design requirements to an initial assay design including defining the coverage over the target regions, capture and sequencing methodologies, and any supplementary assays as needed.
Download the Test Optimization NGS worksheet

Test Validation

Describes typical analytical performance metrics including analytical sensitivity, specificity, reproducibility, and repeatability in addition to associated formulas, suggested reference materials and calculators. Also included are example worksheets on validation study design and subsequent data analysis.
Download the Test Validation NGS worksheet

Quality Management

Provides an overview of the procedure monitors for the pre-analytical, analytical and post-analytical phases of NGS based testing.
Download the Quality Management NGS worksheet 

Bioinformatics and IT

Provides an overview on the critical considerations for the compute infrastructure as well as selection and validation of informatics approaches for tertiary processing of samples (the initial aspects of bioinformatics are covered in previous sections).
Download the Bioinformatics and IT NGS worksheet 

CAP members have access to the electronic versions of the full 2016 Precision Health Resource Guide as well as access to our Short Presentations on Emerging Concepts (SPECs).

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