Patient Reactions to Genetic Testing Results
Patients and families can have varied responses to receiving genomic testing results, whether positive, negative, uncertain, or unexpected. Feelings of curiosity, frustration, grief, worry, regret, and anger are not uncommon.
Responses to definitive results
Family response to positive results that provide a genetic diagnosis may be more complex than other types of testing. Some families may experience stigma or shame surrounding the concept of genetic or congenital disease or associated findings like autism and intellectual disability. Inherited conditions impact the whole family and may produce feelings of parental guilt.
On the other hand, many families undergoing genomic testing have already been through an exhaustive search for a diagnosis. A pathogenic finding may provide relief and an end to the diagnostic odyssey while a negative result or VUS may be disappointing.
Responses to uncertain and unexpected results
Genomic testing may result in uncertain or inconclusive findings, which can be challenging for families to live with, especially when a diagnosis would give them useful clinical information and access to a disease community.
Secondary findings and other unexpected results can also be challenging and impact family members in different ways. A secondary finding is a result that is unrelated to the patient's reason for testing, but has health implications for the patient and/or family members (e.g., learning a child has an adult-onset hereditary cancer syndrome). While some individuals have increased anxiety or worry after learning about a secondary finding, others may view such results as helpful, in that a health risk is now identified and there may be screening or management options to mitigate risk. Another type of unexpected result is misattributed family relationships, such as nonpaternity.
Impact of a diagnosis
Whether a diagnosis was desired or unexpected, coming to that diagnosis often raises additional questions for the family around medical management, life expectancy, and social issues, such as child bearing, employability, and insurability. There may also be health or reproductive risks for other family members, such as siblings.
Expect a range of responses even within the same family. Each family member may have his/her own interpretation of the meaning of the results.
Tips for supporting families with genomic testing results
- Be aware of factors that can influence understanding of or coping with results:
- Potential emotional reactions to results
- Existing experiences and underlying psychosocial issues
- Health literacy level and baseline understanding of genomic testing
- Elicit, acknowledge, and validate unique feelings that arise from genomic results.
- Think ahead about the kinds of psychosocial referrals that might be appropriate, and have support resources specific to the diagnosis available to provide to the family.
- Create a plan for next steps with the family, specific to their results. This may include:
- List of recommended consultations and evaluations
- Genetic counseling referral
- A follow-up appointment to check on progress with this plan
- For negative or VUS results, an appointment every 1-2 years to re-evaluate the child and potentially consult with the lab about new information about VUS or discuss reanalysis of previous exome data.