Post test counselling

The process of post-test counselling after genomic testing will vary greatly by patient and by the type of test results. Patient responses to, understanding of, and interpretation of results will naturally be influenced by their particular situation. Therefore, it’s important for clinicians to be prepared to manage a range of thoughts, feelings, and reactions.

Uncertainty, in various forms, is commonly associated with genomic testing. Such uncertainty arises through:

• uninformative or negative test results (i.e., no diagnosis made)
• uncertain test results, where evidence for an identified variant does not support a causal relationship with the phenotype.

However, receiving a confirmed diagnosis can also present another form of uncertainty. When a condition is very rare, clinicians may be unable to provide patients/families with a clear prognosis or any form of patient advocacy/support. Conditions that show variable expressivity or incomplete penetrance can also make clinical management challenging as the severity and/or onset of a diagnosed condition is uncertain.

For many patients, this uncertainty causes anxiety, confusion and often misunderstanding. For patients who’ve been wandering the maze of medical testing for years without answers, being told your genomic test was uninformative, or uncertain, can be incredibly frustrating