Results from the first randomized controlled genetic counseling trial for those affected by colorectal cancer showed significant improvements in patient empowerment. The research, presented Sunday at the European Society of Human Genetics annual conference, indicates that counseling is important for individuals who are affected by, or at risk of, inherited disease.
Genetic counseling, a relatively new field, involves helping individuals and families affected by genetic disorders to understand and adapt to the medical, psychological, and familial implications of the genetic contribution to their disease. With the recent advent of genomic medicine, such counseling has taken on new importance.
Although genetic counseling is known to be useful in helping patients cope with test results and deal with uncertainty, there have been few randomized controlled trials of its effectiveness, and few randomized controlled trials of its use in inherited cancers. While previous trials have looked at different counselling strategies for familial colorectal cancer, the researchers contend theirs was the first trial to investigate the effect of counseling versus no counseling.
The researchers recruited 82 individuals from a Romanian oncology clinic who were at risk for various types of familial colorectal cancer, and randomized them to either a standard care group, or standard care plus genetic counseling group. The participants’ average age was 44.8 years, and 52.4% were female.
The results indicated a significant effect on empowerment scores in the group that received genetic counseling as compared to the control group. Further analysis showed that the counseling group showed significant improvements in patients’ feelings of improved knowledge and empowerment, and reduced feelings of anxiety, depression, and emotional distress.
The researchers hope that their results will inform further investigations, as well as greater incorporation of genetic counseling into clinical practice. Since genetic counseling is a fairly young discipline, they say building robust evidence of its effectiveness is important. They believe their study underlines the need for more support from healthcare systems and policymakers for the development of genetic counseling, and expect that more trials for other conditions will follow.
“Empowerment is particularly important for these patients, since not only does it help them feel they can make real, informed choices, but it also aids their ability to manage their feelings and make plans for the future,” Dr. Andrada Ciuca, post-doctoral researcher at Romania’s Babes-Bolyai University, observed in a statement. “An interesting finding was that the more anxiety decreased after their counseling session, the greater the impact was on their empowerment. This highlights the importance of addressing emotional distress during genetic counseling.”
“We should empower patients to make informed choices. This is only possible if we are fully committed to help them understand the medical information we provide,” conference chair Alexandre Reymond, president of the European Society of Human Genetics, added.