Genomic Medicine Enters the Clinic: New Roles and Challenges for Hospital Librarians

摘要

Five-year-old Nicholas Volker was dying. After countless surgeries and endless suffering, a rare intestinal disease had stymied the best efforts of traditional medicine. As a last resort, his medical team turned to a new diagnostic method. Whole-genome sequencing, previously a prohibitively expensive and time-consuming research technique, had entered the realm of clinical practice as a result of remarkable technological advances. In December 2010, the team sent the boy's DNA for analysis and held their breath. The results came back: his genetic code for a key protein had a single, deleterious mutation. This information suggested a novel treatment regime, and the rest is history. Nicholas experienced a complete recovery, his family found a new life, and genomic medicine made a dramatic entry into clinical practice (1).