7/29/2019 Informed Consent Checklist

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Genetic Testing Process ToolkitInformed Consent & Pre-Test Counseling Checklist

Published September 201 NCHPEGAll rights reserved

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.

Checklist

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

7/29/2019 Informed Consent Checklist

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Published September 2013 NCHPEG

All rights reserved

Benefits, Risks and Limitations of Genetic Testing

Potential Benefits Potential Limitations/Risks

Diagnose or identify the cause of a childs symptoms Possibility of uncertain variants or unanticipated results

(e.g., consanguinity, non-paternity)

End search for a diagnosis Possibility of a false negative or not coming to a

diagnosis; May not identify all possible gene mutations

Inform personalized management and treatment Treatment/management may not be clear with some

results

Provide prognostic information for the patient If predictive testing, not all patients with a gene

mutation will go on to develop the disease

Identity recurrence risk to other relatives 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 t he

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 individualo No cause for neurologic symptoms identified in mutation-negative yet symptomatic individualo Guilt for potentially having passed on a mutationo Difficulty adjusting to an unanticipated incidental finding

Social issueso Child bearingo Selecting a careero Selecting a marriage partnero Screening in childhoodo Insurabilityo Employability

Resources

American Medical Association: Informed Consent