Summary: Discusses reactions patients may have to genetic test results.
By JAX Clinical Education | August 2025
Patients and families can have different responses to receiving genomic test results, whether positive, negative, uncertain, or unexpected. Feelings of curiosity, relief, frustration, grief, worry, regret, and anger are not uncommon.
Family response to positive results that provide a genetic diagnosis may be more complex than other types of clinical 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 positive result may provide relief and an end to the diagnostic odyssey while a negative result or VUS may be disappointing.
Testing for a known familial variant can be positive or negative. Because there is a known genetic variant in the family, a negative result is considered informative, or “true negative.” While many people may feel relief that they did not inherit the increased risk or are not carriers for a condition in the family, some feel a version of “survivor guilt,” where they are uncomfortable that other relatives are at risk while they are not.
Genomic testing may result in inconclusive or uncertain findings, which can be challenging for families to live with, especially when a diagnosis would give them useful clinical information and access to a support community. These include uninformative negative results, where the findings of the test do not identify or rule out a genetic cause, and variants of uncertain significance, where the effect of a variant on gene function is unclear.
Secondary findings and other unexpected results can also be challenging and may 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.
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 childbearing, 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.
Genomic Testing for Diagnosis (CME|CNE). Practice identifying patients who may benefit from genomic testing and communicating with patients, families, and genetic experts about testing.
Genetic Testing in Pediatric Neurology. Practice identifying when further value might be added by a molecular diagnosis and choosing the best genetic tests for the clinical context.
All information in this resource is provided for educational purposes only.