The role of genetic testing and effect on patient care.
The heralded report of the first draft of the Human Genome Project highlights the role genetics plays in nearly all medical disciplines, including dermatology. Many inherited disorders have dermatological features, and dermatological pathologic conditions frequently can be traced to a genetic cause. Suspicion of a genetic disorder is often suggested first by a practitioner such as a dermatologist, who is likely to be the first to identify characteristic features of the disease. This review highlights the relationship between the clinician and genetics professional in genetic testing using a case example of a familial cancer syndrome, Cowden syndrome, as a model.
Niendorf
K B
KB
Center for Cancer Risk Analysis, Massachusetts General Hospital, Zero Emerson Pl, Suite 104, Boston, MA 02114. kniendorf@partners.org
Shannon
K M
KM
D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000517:prevention & control*