Testing Options

Discussing Testing Options, Interpretation, and Results

This section reviews the process of discussing test options, and interpreting and communicating test results with patients. The genetic counselor assesses the patient’s needs and then guides the patient through the genetic counseling process. “Two major genetic counselor activities are providing information and assisting clients in their decision making” (Veach et al., 2003). No matter how common the “indication for referral,” each genetic counseling session is unique in terms of patient needs. Some patients may see a genetic counselor without having any idea why they were referred, while other patients may come to the session having already decided to undergo genetic testing. Cultural and religious factors add to the complexity of defining who in the family makes decisions, who to test, who receives the results, as well as assessing the overall implications of genetic test results for family members.

Current genetic counseling job tasks were determined by the American Board of Genetic Counseling as the outcome of a Genetic Counseling Practice Analysis (Hampel et al., 2009). The following is a list of the Testing Options, Interpretation, and Results Discussion tasks:

  1. TESTING OPTIONS

    1.  Explain testing options (pre- and post-natal)

      1.  Diagnostic

      2.  Screening

      3.  Predictive (e.g., pre-symptomatic, susceptibility)

      4.  Research

    2.  Identify most informative persons for testing

    3.  Explain possible testing outcomes and implications

    4.  Discuss potential costs, risks, benefits, and limitations of testing

    5.  Help client anticipate the range of emotional effects client and/or family members may experience

    6.  Facilitate decision making regarding genetic test

    7.  Facilitate genetic testing

    8.  Select the test

    9.  Select laboratory for testing

    10.  Discuss test with laboratory

    11.  Identify specimens for testing

    12.  Facilitate informed consent

    13.  Assess client understanding and response

    14. Modify counseling based on client’s understanding and response

  2.  TEST INTERPRETATION AND RESULTS DISCUSSION

    1. Interpret clinical significance of test results depending on situational variables (e.g., methodology, clinical context, family history, paternity) and literature/resources

    2.  Discuss results to include

      1.  Sensitivity and specificity

      2.  Implications of positive, negative, and/or ambiguous results

    3.  Recommend additional testing

    4.  Assess client understanding and response

    5.  Modify counseling based on client’s understanding and response

 

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