Easing the stress of genetic screening
by Sharon Gray
Dr. Chris Way, right, and master’s student Jackie Stokes with some of the family files in their study on the psychosocial effects of hereditary colorectal cancer.
If you were at genetic risk for cancer, would you want to be tested and screened?
Colorectal cancer “runs in their family” for many people in this province, and genetic testing for Hereditary Non-Polyposis Colorectal Cancer (HNPCC) can give an individual a better idea of their risk for developing it.
The problem is that this may also cause anxiety over screening options, and worries about passing on the same genetic mutation to their children.
Dr. Christine Way, School of Nursing, is the team leader in Newfoundland and Labrador for a study investigating the impact on families of going through the genetic testing process and getting genetic test results. Working with her is Jackie Stokes, a master’s student in nursing who was formerly a research assistant on the project. The study is part of the work of the Colorectal Cancer Interdisciplinary Health Research Team, an interdisciplinary project recently funded for a second five-year term by the Canadian Institutes of Health Research (CIHR) involving 42 investigators based mainly in Ontario and Newfoundland and Labrador.
With rates of colorectal cancer in Newfoundland and Labrador 27 per cent higher than the national average, research has focused on people at high risk of colorectal cancer who can be identified through molecular testing or family history. The goal is to get these people into screening programs which will remove polyps before they are cancerous.
By analyzing qualitative interviews with family members at risk of colorectal cancer, Dr. Way is developing a psychosocial tool to improve counselling methods and develop interventions to help people deal with genetic information and improve their screening habits and other health behaviours.
“Dr. Mary Jane Esplen in Toronto has been studying the psychosocial aspects of genetic testing from the beginning of the research project in 2001, but the questionnaires being used weren’t sensitive enough to deal with some of the issues the affected people had to face,” explained Dr. Way. “I had experience doing qualitative research so we have used the technique of taping in-depth with people in affected families. We are now taking all the data from the transcripts to construct a theory on how people with HNPCC relate and define their experience.”
Dr. Way said when they first started doing the interviews the researchers thought the whole idea of participating in genetic testing would be unnerving for the families. “It was, but it was also bringing closure to what they had suspected they had lived through the suffering and dying of family members and now they were able to find out if they were at risk.”
Ms. Stokes said that often the decision to go for testing is done for the sake of knowing if their
children are at risk. “Some individuals go through the testing and deal with that, then sooner or later they reach the stage of being affected by cancer and that brings out new issues for them and their families, especially as their children come of an age to be tested.”
The actual testing for colorectal cancer, usually a colonoscopy, is not an easy procedure and it can be a major struggle for people to keep up with annual screenings and perhaps other screenings if other cancer risks develop. Resources are scarce and for people in remote areas it involves traveling to St. John’s at regular intervals.
Dr. Way said a major problem is there is no liaison person to guide the patient between all the different tests and procedures they may have to have. “The health care system needs someone to just call and explain how to prepare for the test. Someone who can answer questions, who understands the stress involved.”
Dr. Way’s research will develop a tool to assist this process. “Right now we are coding all the transcripts to determine what issues people identify as being most important to them. Then we can develop a monitoring tool to intervene, a clinical tool for physicians and other health care providers. That is my dream, to develop a unique monitoring tool for this population that the family physician can administer to monitor the patient’s concerns.”
Dr. Way and Ms. Stokes said the research they are doing is very time consuming and requires a high level of commitment. “The interviews themselves aren’t easy,” said Dr. Way. “These are people living with a high level of anxiety who don’t know what’s over the hill tomorrow.”