Guide to Interpreting Genomic Reports: A Genomics Toolkit

This guide is intended for healthcare providers faced with understanding and interpreting their patients’ genomic test reports. This guide is not intended to help select a test, but rather to help providers navigate test results.


Type Website
CME Available No
Topic
Cost Free
Note

For Genetic Counselor: Fantastic resource on genomic testing developed by genetic counselors and other genetic professionals. 


For Physician: Practitioners of all types just learning about genomics.


Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Pharmacist

  • Basic Genetic Concepts
    • B1:   To demonstrate an understanding of the basic genetic/genomic concepts and nomenclature
    • B3:   To identify drug and disease associated genetic variations that facilitate development of prevention, diagnostic and treatment strategies and appreciate there are differences in testing methodologies and are aware of the need to explore these differences these differences in drug literature evaluation
  • Genetics and Disease
    • G1:   To understand the role of genetic factors in maintaining health and preventing disease
    • G2:   To assess the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation)

Physician Assistant

  • Patient Care
    • 4:   Incorporate genetic tests into patient management

Genetic Counselor

  • Genetics Expertise and Analysis
    • 1:   Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles.
      • 1a:   Demonstrate knowledge of principles of human, medical, and public health genetics and genomics and their related sciences.
    • 4:   Identify, assess, facilitate, and integrate genetic testing options in genetic counseling practice.
      • 4a:   Investigate the availability, analytic validity, clinical validity, and clinical utility of screening, diagnostic and predictive genetic/genomic tests.
      • 4c:   Identify and discuss the potential benefits, risks, limitations and costs of genetic testing.
      • 4e:   Interpret the clinical implications of genetic test reports.
      • 4f:   Recognize and differentiate specific considerations relevant to genetic versus genomic and clinical versus research testing in terms of the informed consent process, results disclosure, institutional review board (IRB) guidelines, and clinical decision-making.