Challenges of Genetic Testing.

We need to think about some of the ethical issues of genetic testing today since regular routine clinical testing does not appear to be very far in the future.

First we need to consider the difference between testing for somatic cell mutations and germline mutations, because the issues are different.

With somatic cell mutation testing, the general ethical concerns of regular clinical tests apply, and there really are no special unique "genetic" issues. This needs emphasis because, at least in oncology this will constitute the vast majority of testing. These tests do not raise special ethical concerns that we associate with genetics because they have no reproductive or family implications. They are really like many other prognostic tests that we use, like prostate specific antigen. Our concerns about them relate to the issues of analytic validity, clinical validity, and clinical utility.

Germline mutation tests are the genetic tests that have the worrisome features. These features are related to three major characteristics: the probabilistic nature of the information, another way of saying uncertainty; the familial implications, the fact that information you find has implications for other members of the family; and the reproductive implications, the potential of passing on the genes to one's children.

Such features are worrisome because they increase the risk of potential harms such as psychological harms, harms to families, and social harms.

Psychological harms really arise from uncertainty, confusion, and anxiety about the probabilistic nature of the information. The test may not be 100% reliable, and even if the test is reliable, it usually won't give you a "yes, you are going to get this cancer" or "no, you are not going to get this cancer" type of answer. It says you are at increased risk for developing this type of cancer.

The familial harms result from the inheritable nature of germline mutations ...