Hereditary Pancreatitis/3

  1. Potential risks and limitations of genetic testing

  1. Genetic discrimination
    As with genetic testing for any type of condition, there is a small but potential threat for insurance and/or employment discrimination. We have never heard of a documented case of this type of discrimination among our research population of over 700 individuals. Moreover, it is reassuring to know that there are no published cases of insurance discrimination with regard to hereditary pancreatitis. Individuals who undergo genetic testing as part of a research study are generally well protected because of our strict rules of confidentiality. For instance, no information about an HP participant is ever released to a third party without written permission from a participant. All blood samples are identified using a code number instead of personal information such as names or social security numbers. Because no research organization can completely eliminate the risk for discrimination, this potential threat should be considered before requesting your genetic test results are confirmed and released to you.

  2. Adverse psychological emotions
    Powerful emotions such as anxiety, guilt, and depression can accompany the process of genetic testing. In addition, genetic information has a powerful influence on an individual’s reproductive behaviour and a lifelong impact on future descendants.

  3. Genetic test results cannot prevent or cure HP
    At this time, there is no cure for HP, nor is there a way to prevent pancreatic attacks in patients who carry HP mutations. Furthermore, there does not appear to be a difference in medical treatment for patients who have a hereditary form of pancreatitis versus patients who have a non-hereditary form of pancreatitis.4. "Non-informative" test results.
    Non-informative test results include any type of test result that is not conclusive in ruling out a hereditary form of pancreatitis. Negative test results must be interpreted very carefully, especially for individuals undergoing pre-symptomatic testing. Pre-symptomatic testing applied to an individual who is not clinically affected with the disease but has at least one parent affected with a dominant disorder. When test results for now trypsinogen mutations are negative, then . .

  • If a mutation has been identified in another family member
    Interpretation: He/she is not at risk to develop the genetic form of pancreatitis that runs in the family. Since he/she does not carry the mutation, his/her children are not at risk either.

  • If a mutation has not been identified in another family member
    Interpretation: Since we do not know what mutation runs in the family, it is possible that this family carries a mutation that we cannot yet recognize. Therefore it is possible that this person could carry the unrecognizable mutation as well.

Action: Enter a research study with the extended family to search for a new gene mutation.