An Evidence Framework for Genetic Testing

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality.


Type Book
CME Available No
Topic
Cost PDF (free); $39 (eBook); $48 (paperback)
Note

For Genetic Counselor: Through discussion of all aspects of genetic testing, including framework for clinicians' critical apprasial of same; valuable for both new and experienced genetic counselors.


For Physician: Researchers only, or those with a high level of understanding of genetics.


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
    • B2:   To recognize and appreciate the role of behavioral, social, and environmental factors (lifestyle, socioeconomic factors, pollutants, etc.) to modify or influence genetics in the manifestation of disease
    • 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
  • Ethical, Legal and Social Implications (ELSI)
    • E1:   To understand the potential physical and/or psychosocial benefits, limitations and risk of genomic/pharmacogenomic information for individuals, family members and communities, especially with genomic/pharmacogenomic tests that may relate to predisposition to disease
    • E4:   To appreciate the cost, cost-effectiveness, and reimbursement by insurers relevant to genomic or pharmacogenomic tests and test interpretation, for patients and populations
  • Genetics and Disease
    • G1:   To understand the role of genetic factors in maintaining health and preventing disease

Physician Assistant

  • Patient Care
    • 3:   Distinguish between genetic screening and genetic testing
    • 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.