Key components of pre- and posttest discussions of genetic testing with patients
| Pretest discussion points . |
|---|
| Reason for testing•Diagnostic vs predictive testing•Potential impacts on clinical care○Results can inform immediate medical management○Results can aid in determining future health risks and how to manage them |
| Types of results•Possibility of positive and negative results as well as VUSs•Possibility of incidental findings•Set realistic expectations regarding the likelihood of an informative result |
| Genetic discrimination•In the United States, mention the protections and limitations of the Genetic Information Nondiscrimination Act (GINA) |
| Psychosocial implications•Ask the patient how might they react to a positive result•How do they respond to uncertainty?•Do they have someone who can support them?•How can their support system be engaged in the process? |
| Logistics•Expected time for results to become available•There is a chance that patients will see the results in the electronic medical record before the ordering provider sees them•Would they like to receive results in person, via phone call, or via telehealth?•Whom would they like to be present for the results discussion? |
| Pretest discussion points . |
|---|
| Reason for testing•Diagnostic vs predictive testing•Potential impacts on clinical care○Results can inform immediate medical management○Results can aid in determining future health risks and how to manage them |
| Types of results•Possibility of positive and negative results as well as VUSs•Possibility of incidental findings•Set realistic expectations regarding the likelihood of an informative result |
| Genetic discrimination•In the United States, mention the protections and limitations of the Genetic Information Nondiscrimination Act (GINA) |
| Psychosocial implications•Ask the patient how might they react to a positive result•How do they respond to uncertainty?•Do they have someone who can support them?•How can their support system be engaged in the process? |
| Logistics•Expected time for results to become available•There is a chance that patients will see the results in the electronic medical record before the ordering provider sees them•Would they like to receive results in person, via phone call, or via telehealth?•Whom would they like to be present for the results discussion? |
| Posttest discussion points . |
|---|
| Reason for testing•Remind patients which testing was done and why•For those who test positive for a pathogenic or likely pathogenic variant:○Focus on the benefits, such as impact on personalized care, treatment, or surveillance•For those who test negative or have one or more VUSs:○Be clear about the limitations of the testing and that more testing might be available in the future○Discuss whether or how the negative results/VUSs may affect clinical care |
| Psychosocial impacts•For those who test positive for a pathogenic or likely pathogenic variant:○Normalize the result; everyone has gene changes or mutations○Provide information on support groups for patients with the same condition, if available○Provide information on psychosocial resources in the patient’s community•For those who test negative or have one or more VUSs:○Patients do not always perceive negative results or VUSs as beneficial○Some might be disappointed not to have an answer that explains their disease○Be cognizant of how the patient is reacting and provide support as needed |
| Family communication and cascade testing•For those with positive results, explain the inheritance pattern and which relatives are recommended for testing•If possible, provide resources to aid the patient or family member in identifying genetic counselors or other specialists in their home community |
| Posttest discussion points . |
|---|
| Reason for testing•Remind patients which testing was done and why•For those who test positive for a pathogenic or likely pathogenic variant:○Focus on the benefits, such as impact on personalized care, treatment, or surveillance•For those who test negative or have one or more VUSs:○Be clear about the limitations of the testing and that more testing might be available in the future○Discuss whether or how the negative results/VUSs may affect clinical care |
| Psychosocial impacts•For those who test positive for a pathogenic or likely pathogenic variant:○Normalize the result; everyone has gene changes or mutations○Provide information on support groups for patients with the same condition, if available○Provide information on psychosocial resources in the patient’s community•For those who test negative or have one or more VUSs:○Patients do not always perceive negative results or VUSs as beneficial○Some might be disappointed not to have an answer that explains their disease○Be cognizant of how the patient is reacting and provide support as needed |
| Family communication and cascade testing•For those with positive results, explain the inheritance pattern and which relatives are recommended for testing•If possible, provide resources to aid the patient or family member in identifying genetic counselors or other specialists in their home community |