Trip to the Northern Cape of South Africa to visit colorectal cancer patients

As a Fogarty Fellow in the Division of Human Genetics at the University of Cape Town, South Africa my project aims to identify modifier genes and environmental factors which influence the age of onset of colorectal cancer (CRC) in South Africans. My host mentor, Professor Raj Ramesar, and his research group have investigated the genetics of inherited CRC and related cancers for the past 15 years in South African individuals genetically predisposed to an 80% lifetime risk of developing CRC. However, the age of cancer onset varies greatly due to secondary gene mutations and environmental factors that have not yet been explained.

In March, I had the privilege of meeting some of the patients behind the DNA on a trip to 12 rural communities in the Northern Cape. With the help of Sister Ursula Algar, our genetic nurse, and Zandre Bruwer, a Ph.D. student in genetic counseling, I collected blood samples and gathered smoking data (translated into Afrikaans) for my study.

There were many events on this trip that left an impression. The kindness and hospitality shown to us was overwhelming, as was the participation from every patient. There were very long days of driving through extremely poor road conditions, often to reach just 2-3 people. As one woman invited us inside her mantjiehuis (mat house), it seemed more like a reunion with old friends than a doctor/patient setting. I realized that my project would not be possible without the genetic nurses and counselors and their long-standing relationship with the CRC patients. I returned to the lab with a whole new appreciation for each DNA sample that is genotyped in my research.

It was truly a rewarding experience to see how this ongoing research truly improves the healthcare in rural communities. Understanding the genetic basis for colorectal cancer has led to predictive testing that has successfully been used in the field in rural areas of South Africa to provide predictive genetic information, genetic counseling and preventive clinical services with a very positive outcome (Anderson, 2007).

**Note: This month, Professor Raj Ramesar was awarded the University Vice Chancellor Alan Pifer Award for recognition of outstanding research that demonstrates relevance to the advancement and welfare of South African disadvantaged people in the Northern and Western Cape Provinces.