Incidental Findings
Genetic testing is designed to determine causes or factors underlying your/your child’s illness, in
order words finding that are relevant to the reason why testing was performed. However,
sometimes the genetic results indicate findings that are likely unrelated to the reason that testing
was performed. These so called “incidental findings” can include, but are not limited to, the
following:
- The presence of another condition that you/your child may have.
- An increased risk to develop certain conditions, for example certain cancers, and heart or
brain disease. - An increased risk related to certain drugs. For example, that a given drug, if taken, may
lead to toxic blood levels, severe bleeding, or even sudden death. - Bullets 1 to 3 above could also apply to one or more relatives if they carry the same
genetic change(s). - Genetic “blood” relationship between the parents may be identified by testing.
- Non-paternity may be identified by testing if parental samples are provided.
When you were originally consented for genetic testing, you should have been given the
opportunity to “opt-out” of receiving information on incidental findings. If you continue to wish
to opt-out, or if you change your mind, please contact your physician so that incidental findings
will not be discussed. However, even if you do opt out, you will be told about cross-over
findings that may be relevant to the disease being tested, as well as relevant to other issues. For
example, sequence variants in some genes can predispose (increase the risk) towards migraine,
seizures, and abnormal heart rhythms. If your child has migraine, you will also learn about
potential risks for seizures and abnormal heart rhythms.
Despite the focus being on the primary illness, sequence re-analysis as part of the
Comprehensive Service is likely to identify one or more potential incidental findings NOT listed
on the official report from the testing laboratory.
Please consider among the two below choices:
____ I wish to receive ALL results that my physician and/or the CNNH MD geneticist believe
may be directly related to my/my child’s health.
____ I do NOT wish to receive the above results that my physician and/or the CNNH MD
geneticist believe are likely not directly related to the reason for which testing was performed.
Be sure to discuss your preference with your physician.
