基因疗法(英文版).pdfVIP

T h e n e w e ngl a nd j o u r na l o f m e dic i n e review article Genomic Medicine W. Gregory Feero, M.D., Ph.D., and Alan E. Guttmacher, M.D., Editors Genomic Medicine — An Updated Primer W. Gregory Feero, M.D., Ph.D., Alan E. Guttmacher, M.D., and Francis S. Collins, M.D., Ph.D. Cathy, a 40-year-old mother of three, arrives in your office for her annual physical. From the National Human Genome Re- She has purchased a commercial genomewide scan (see the Glossary), which she be- search Institute (W.G.F.), the Eunice Ken- nedy Shriver National Institute of Child lieves measures the clinically meaningful risk that common diseases will develop, Health and Human Development (A.E.G.), and has completed her family history online using My Family Health Portrait (www and the Office of the Director (F.S.C.), .), a tool developed for this purpose by the U.S. Surgeon Gen- National Institutes of Health, Bethesda, MD; and the Maine Dartmouth Family eral. Her genomewide scan suggests a slightly elevated risk of breast cancer, but Medicine Residency Program, Augusta, you correctly recognize that this information is of unproven value in routine clinical ME (W.G.F.). Address reprint requests to care. On importing Cathy’s family-history file, your office’s electronic health record Dr. Feero at the National Human Ge-