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Genetic Testing Process Toolkit

Informed Consent & Pre-Test Counseling Checklist

Informed consent is an important step in the genetic testing process. In addition to being required by state laws and laboratories, thorough pre-test counseling will save you time when you discuss genetic testing results with the family. Discussion of these key points helps prepare the family for the potential outcomes and limitations of genetic testing. Use the accompanying handout on clinical examples and talking points for further illustration and practice.

Communicate goals of testing Information about the test Purpose of testing Description of the disorder that will be tested for Ability of test to detect disease Potential benefits, risks, and limitations of testing See risks and benefits table (below) Confidentiality protections Genetic discrimination risks and protections Assess family goals and expectations Set Expectations Potential results Positive Negative Variant of uncertain significance May need parental/family testing Unanticipated results Non-paternity Consanguinity Different genetic alteration identified than anticipated (in whole genome analysis) Diagnosis unrelated to patients presentation (e.g., diagnosis of an adult -onset syndrome) Logistics of testing Payment and insurance pre-authorization Disclosure of results Phone vs. in person Who can results be disclosed to? Anticipated turn-around-time Potential specimen retention Document the informed consent discussion in the patients medical record

Published September 2013 NCHPEG All rights reserved

Benefits, Risks and Limitations of Genetic Testing

Potential Benefits Diagnose or identify the cause of a childs symptoms End search for a diagnosis Inform personalized management and treatment Provide prognostic information for the patient Identity recurrence risk to other relatives Potential Limitations/Risks Possibility of uncertain variants or unanticipated results (e.g., consanguinity, non-paternity) Possibility of a false negative or not coming to a diagnosis; May not identify all possible gene mutations Treatment/management may not be clear with some results If predictive testing, not all patients with a gene mutation will go on to develop the disease Increases anxiety Causes blame, guilt, or secrecy in the family Labels a patient with a diagnosis or specific risk, increasing concerns about discrimination

Psychological and social issues related to genetic testing The importance of psychosocial issues necessitate that the genetic counseling and informed consent process always accompany the genetic testing process. Most patients report being satisfied with their testing decisions Some degree of uncertainty associated with all test results that can result in anxiety Some patients may react negatively to either a positive or negative test result o Survivor guilt in a mutation-negative individual o No cause for neurologic symptoms identified in mutation -negative yet symptomatic individual o Guilt for potentially having passed on a mutation o Difficulty adjusting to an unanticipated incidental finding Social issues o Child bearing o Selecting a career o Selecting a marriage partner o Screening in childhood o Insurability o Employability

American Medical Association: Informed Consent

Published September 2013 NCHPEG All rights reserved