Genomic Medicine — An Updated Primer

Abstract

Cathy, a 40-year-old mother of three, arrives in your office for her annual physical. She has purchased a commercial genomewide scan (see the Glossary at the end of this article), which she believes measures the clinically meaningful risk that common diseases will develop, and has completed her family history online using My Family Health Portrait (www.familyhistory.hhs.gov), a tool developed for this purpose by the U.S. Surgeon General. Her genomewide scan suggests a slightly elevated risk of breast cancer, but you correctly recognize that this information is of unproven value in routine clinical care. On importing Cathy's family-history file, your office's electronic health record system alerts you to the fact that Cathy is of Ashkenazi Jewish heritage and has several relatives with breast cancer, putting her at heightened risk for the hereditary breast and ovarian cancer syndrome. The system prompts you to discuss Cathy's risk of breast and ovarian cancer during the visit. Considering both her family history and ancestry, you refer Cathy to a health care professional with advanced genetics training for consultation.