Interpreting genetic and genomic test reports and sharing results with patients can be challenging.

Patient responses and understanding will vary and it’s important to be prepared to manage a range of thoughts, feelings and reactions.

In some cases, further testing can help clarify initial test results.

Interpret and provide results

The laboratory will provide a report of results. Genetic or medical specialists will interpret these and discuss in the clinical setting with the patient.

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Post test counselling

It is important for patients to understand all aspects of the test results, including uninformative or uncertain results, and potential implications for clinical management treatment options, or other family members.

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Further testing

Genomic test results may lead to further testing of family members to better understand variants identified (e.g., segregation testing) and/or prenatal testing for future pregnancies. Future reanalysis of sequence data may also be an option (e.g., as new genes are discovered).

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