Genetic counselling is essential when dealing with individuals who are affected by, or at risk of, inherited disease.

Although it is known to be useful in helping patients cope with test results and deal with uncertainty, there have been very few randomised controlled trials (RCTs) of its effectiveness.

Dr Andrada Ciuca, a post-doctoral researcher at Babes-Bolyai University, Cluj-Napoca, Romania, told the annual European Society Of Human Genetics conference that the results of the first RCT of genetic counselling in familial colorectal cancer (fCRC) show that it provided significant improvements in patients’ feelings of empowerment, as well as other states of mind such as depression and emotional distress.

Genetic counselling involves the process of helping individuals and families affected by or at risk of genetic disorders to understand and adapt to the medical, psychological and familial implications of the genetic contribution to their disease. In recent years, with the advent of genomic medicine, such counselling has taken on a new importance.

The researchers recruited 82 individuals who were at risk for various types of fCRC from a Romanian oncology clinic, and randomised them to either standard care or standard care plus genetic counselling.

Their average age was 44.81 years old, and 52.4% of the participants were female.

They saw a significant effect on empowerment and depression scores in the group that received genetic counselling as compared to the control group, and further analysis showed that the counselling group also had improvements in knowledge, anxiety, and emotional distress.

“We found that lower emotional distress benefited more in terms of empowerment,” says Dr Ciuca. “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. An interesting finding was that the more anxiety decreased after their counselling session, the greater the impact was on their empowerment. This highlights the importance of addressing emotional distress during genetic counselling.”

The researchers hope that their results will inform further investigations in genetic counselling, as well as clinical practice. Since it is a fairly young discipline, building a robust evidence base of its effectiveness is important, they say.

In the meantime, their study should underline the need for more support for the further development of genetic counselling from healthcare systems and policy makers.

“Because genetic counselling is relatively new, it is perhaps unsurprising that there are so few RCTs of its use in inherited cancers. There have been trials looking at different counselling strategies in fCRC, but this is the first to look at the effect of counselling vs. no counselling. However, there is a strong evidence-based ethos in our discipline, and I would expect that more trials for other conditions will follow,” Dr Ciuca will conclude.

Professor Alexandre Reymond, chair of the conference, said: “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.”

Source: European Society Of Human Genetics