During my years in Pharmaland, I often sat in waiting rooms waiting to see the Principal Investigator (PI) for one of the studies we were doing. I would generally see them at the end of the clinic, preferring to arrive early and chat with some of the patients to learn of their experiences, the trials and tribulations of cancer therapy. This keeps your feet on the ground – drug development is not an academic exercise, there are real people involved after all.
Approximately 150,000 Americans are affected by colorectal cancer each year as well as 500,000 worldwide. Much of the morbidity and mortality of the disease could be prevented if we understood more about the risk of the cancer developing and were able to intervene with appropriate treatment.
3-4% of colorectal cancer cases are inherited as a familial syndrome. The most common of these is Lynch syndrome, which is also know as hereditary nonpolyposis colorectal cancer. It is caused by a mutation in one of four mismatched genes. The identification of such patients is important, but it is impractical to screen every patient for these mutations because current tests cost around $3,000. Clinical algorithms have therefore evolved to estimate risk of developing Lynch Syndrome.
Some Scottish researchers recently reported on a new algorithm to identify patients who present with one of the 4 mismatched genes. They used a population based approach in newly diagnosed patients under 55 years and used clinical features to develop a better predictive model to estimate which patients with the disease was a likely mutation carrier.