Genetic Testing

Genetic testing of individuals who are exhibiting symptoms of a genetic disorder is relatively straightforward. Testing is necessary to either make or confirm a diagnosis, which may improve treatment and establish risk estimates for other family members.

A concern related to symptomatic testing is the duty to recontact the patient in the future if more information becomes available. Often, symptomatic individuals, usually children, present with a variety of symptoms for which no diagnosis can be made clinically and for which there is no genetic test. However, with the completion of the Human Genome Project and the wealth of research being conducted, new genes are discovered regularly, which may result in new testing possibilities. Most physicians inform their patients that more information may be available in the future and ask their patients to contact the clinic periodically to inquire about such updates. It is unclear whether this is sufficient to fulfill the physicians' obligation; however, no clear standards exist on this issue.