Genetic Testing Methods

Genetic Testing Methods aims to improve clinicians' ability to navigate different genetic testing options, including: Single gene sequencing; Multi-gene panels; Chromosome microarray; Whole exome sequencing; And many more! 


The goal of this resource is to improve the provider’s knowledge about commonly used genetic tests and testing technology. Key points in understanding the indications for use, benefits, and limitations are discussed for each testing option.


Type Book
CME Available No
Topic
Cost Free
Note



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

Physician Assistant

  • Patient Care
    • 3:   Distinguish between genetic screening and genetic testing
    • 4:   Incorporate genetic tests into patient management

Nurse

  • Professional Responsibilities
    • PR-2:   Advocate for clients' access
      • PR2-K1:   Resources for healthcare professionals and lay public
        • PR2-1:   Demonstrate appropriate care and concern for all clients throughout their referral, provision of direct care and follow-up to genetic services.
        • PR2-2:   Demonstrate knowledge about accessing local/regional genetic and/or genomic resources.
        • PR2-3:   Include genetic health care professionals in team building and collaborative strategies to optimize client outcomes.
        • PR2-4:   Help client negotiate system barriers that limit access to genetic/genomic services.
        • PR2-5:   Identify strategies that could be used to facilitate reimbursement for access to genetic/genomic services and/or tests.
      • PR2-K2:   Resources for genetic and/or genomic referrals within one's community
        • PR2-1:   Demonstrate appropriate care and concern for all clients throughout their referral, provision of direct care and follow-up to genetic services.
        • PR2-2:   Demonstrate knowledge about accessing local/regional genetic and/or genomic resources.
        • PR2-3:   Include genetic health care professionals in team building and collaborative strategies to optimize client outcomes.
        • PR2-4:   Help client negotiate system barriers that limit access to genetic/genomic services.
        • PR2-5:   Identify strategies that could be used to facilitate reimbursement for access to genetic/genomic services and/or tests.

Physician

  • Genomic Testing
    • P-GT2A:   Patient Care
      • 2A1:   Discuss the indications for genomic testing - specifically the benefits, risks, and alternatives
      • 2A2:   Explain the implications of placing genomic test results in the patient’s medical record
      • 2A3:   Discuss the possibility of incidental findings and how they will be handled
      • 2A4:   Discuss risks of having genomic testing done: e.g., psychological implications for the individual as well as the family; the potential for discrimination; and the potential effect on insurance coverage.
      • 2A5:   Explain to the patient issues of costs and financial coverage of genomic testing
      • 2A6:   Order, interpret, and communicate the results of appropriate genomic tests, within the physician’s scope of practice
      • 2A7:   Provide referral to an appropriate specialist for genomic testing of a condition outside the physician’s scope of practice
      • 2A8:   Respond to the results of an abnormal genetic screening test, such as newborn screening, including immediate management and appropriate referral
    • P-GT2B:   Knowledge for Practice
      • 2B1:   Describe the major forms of genomic variability
      • 2B2:   Explain how different genomic changes may result in different phenotypes
      • 2B3:   Recognize that genomic tests require interpretation with respect to the patient’s clinical status (e.g., pathogenic, likely pathogenic, benign)
      • 2B4:   Explain the concepts of analytic validity, clinical validity, clinical utility as they relate to genomic testing
      • 2B5:   Recognize that medically ’non-actionable’ genomic results can be useful to the patient and family (i.e., personal utility)
  • Somatic Genomics
    • P-SG4A:   Patient Care
      • 4A1:   Identify or facilitate identification of patients who may benefit from genomic testing of tissue
      • 4A2:   Explain the benefits and limitations of somatic genomic testing to the patient, including implications regarding treatment of their condition and clarification of his/her prognosis
      • 4A3:   Ensure that tissue biopsy procedures are coordinated to make certain that appropriate and sufficient material is obtained for testing
      • 4A4:   Integrate genomic testing results into the patient-care plan
    • P-SG4B:   Knowledge for Practice
      • 4B1:   Explain the concept of somatic genetic change
      • 4B2:   Describe the role of genomic changes in the pathophysiology and treatment of cancer
      • 4B3:   Explain how genomic testing can be used to guide choice of therapy and adjust drug dosage in patients with cancer

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.
      • 1b:   Apply knowledge of genetic principles and understand how they contribute to etiology, clinical features and disease expression, natural history, differential diagnoses, genetic testing and test report interpretation, pathophysiology, recurrence risk, management and prevention, and population screening.
    • 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.
      • 4b:   Evaluate and assess laboratories and select the most appropriate laboratory and test based on the clinical situation.
      • 4c:   Identify and discuss the potential benefits, risks, limitations and costs of genetic testing.
      • 4d:   Coordinate and facilitate the ordering of appropriate genetic testing for the client.
      • 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.