Genetic Testing: Ethical Issues

Ethical issues that arise within the context of genetic testing are similar to those that arise for any personal medical information. For example, there are concerns about protecting the privacy of the patient and the confidentiality of information, whether it is genetic data or any other item in the medical record. Possibilities of stigmatization or discrimination occur because of social perceptions of some diseases, whether the primary cause is genetic, infectious, or environmental. Furthermore, genetic testing requires informed consent; that is, patients need to be educated about the purpose of the testing (diagnosis, prognosis, or susceptibility assessment), the potential test outcomes and what they mean, and what the options are once the results are known.

Nevertheless, the perspective of "genetic exceptionalism" places genetic information in a category of different, special, or greater concern than other medical information. Knowledge of the genetic information of one person can have an influence on his family members because it implies information about their health status, disease risk, or the possibility of passing a condition on to their offspring. However, while concerns arise from genetic testing because of the obvious familial nature of genetic information, similar concerns arise from the simple knowledge of shared family history or environmental exposures, even without detailed genetic information.

Evaluation of the risks and benefits of genetic testing is an important factor in the process of considering the ethics of its use. The physical risks of genetic testing are generally minimal since, in most cases, DNA can be tested from easy-to-access cells: blood, buccal cells (inside of the cheek), and even hair follicles. However, there is a range of nonphysical risks, including loss of privacy and discrimination.

Consideration of the benefits of a genetic test is sometimes difficult. For example, when a therapy is available for a genetic disease, the availability of this benefit favors conducting the genetic test. If a therapeutic benefit is not available, however, the value of having this information becomes more questionable. Doctors and patients must ask if the information will help in some way, such as in life or reproductive planning. Although it can be difficult to compare the value of the information to the possible risks associated with conducting the genetic test, it should be carefully and explicitly considered.