The Impact of Genomics on Colorectal Surgery in the First Half of the 21st Century: Musings on a Sad Seamstress and her Offspring

Excerpt

Aldred Warthin’s seamstress was depressed. She knew that she was going to die, she knew approximately when she would die, and she knew what would kill her. Her crystal ball was her family history, and her family was “Family G”, a huge kindred at the heart of the recognition of hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch Syndrome). In the century since the sad seamstress and her all-too-accurate predictions of her own demise, hereditary colorectal cancer has been defined and sorted, and evolving clinical approaches have saved the lives and lifestyles of many members of affected families. However, the jigsaw puzzle posed by hereditary colorectal cancer still has many pieces missing, and those staring at the puzzle experience the frustrations and challenges of the incomplete picture. We are hopeful, however, when we consider the recent exponential growth in our knowledge of genomics that the picture will be filled in. Within two or three decades, advances in the technologies of gene discovery, measurement of gene expression and proteomics will combine with increasing computer power and statistical innovations to provide a wealth of information for the puzzle solvers. Not all the gaps in the hereditary colorectal cancer picture can be solved by technology, however. There are issues that must be addressed clinically and the future is bright with promise of new discoveries and new therapies that will change lives and revolutionize families. …