Table 6.
Essential elements of pre-test genetic counseling and informed consent for multigene panel testing
| Elements of pre-test genetic counseling and informed consent |
|---|
| Discussion of the risks associated with groupings of genes (high and moderate risk) to be analyzed, including impact on medical care |
| Implications of testing outcomes: positive, negative, and variant of uncertain significance. This also includes: |
| Possibility of a pathogenic variant is less well understood or reduced penetrance genes |
| Incidental pathogenic variant in gene(s) unrelated to the personal or family history |
| Higher rates of variants of uncertain significance on panels compared to single gene/syndrome testing |
| Potential reproductive risks for genes associated with autosomal recessive conditionsa |
| Possibility the test will be uninformative |
| Risks to family members and importance of sharing results with at risk relatives |
| Costs associated with genetic counseling and testing |
| Potential risks and protection against genetic discrimination by insurers and employers |
| Confidentiality of the information |
| Potential future uses of DNA sample |
| Psychosocial implications |
| Plans for results disclosure and follow up |
a
Such as ATM (ataxia telangiectasia), BRCA2 (Fanconi anemia), or mismatch repair genes (constitutional mismatch repair deficiency)