Gene Donors at High Cancer Risk Received Feedback: Study

New study analyzed how people at high risk for breast, ovarian, or prostate cancer respond to genetic findings' feedback. Gene donors who chose to get results appreciated being contacted and considered the information given to be valuable, reports a new study. The findings of the study are published in the European Journal of Human Genetics. Authors find that knowing more about people's genetic traits will significantly expand the chances of early detection of breast-, ovarian- and prostate cancer in the future.

The national breast cancer screening program in Estonia and in many other countries targets women in a limited age group (50-69 years). However, it's been known for quite some time that a smaller proportion of breast, ovarian, or prostate cancer can be caused by high-risk genetic variants genes, and then cancer often occurs at a younger age. Therefore, the medical system consistently misses people with a hereditary predisposition. If scientists succeed in translating large-scale genomic research into clinical practice, healthcare could improve markedly and enable healthcare providers to personalize prevention plans and treatments.

"In this case, we applied the genotype-first method. In other words, we contacted biobank participants with specific findings in their BRCA1 and two genes, therefore being at higher risk for breast, ovarian, or prostate cancer. In contrast to the approach of the current personal or family history-based clinical approach, we selected participants according to their genetic variants. We started with biobank participants and then included their family members," explained Marili Plover, one of the authors of the paper and a biomedical specialist.

According to the authors' results, all study participants considered the information provided to be understandable, interesting, and valuable. Researchers recommend the return of results in population-based biobanks. Although receiving genetic information may, in theory, cause difficult emotions, this study proved otherwise - even six months later, people reported that they were coping with the information received and had no regret regarding their decision to receive it.

Authors believe that this method could be viewed as a model for population-wide genetic testing. It helps to identify people at risk who would otherwise be unnoticed by the medical system based on personal and family histories only. Plover added that identifying people at risk before symptoms mean individual surveillance and risk-reducing plan, therefore better survival rate and preparedness when symptoms arrive.

"Unfortunately, only 55% of the invites received responses, and we do not know the reasons for not responding to our invitation letter," said Plover. Authors discussed that it could be that some were fearful of receiving results, but it could also be that some did not understand that they could get valuable information as part of this study, and additionally, non-responders could have had more practical reasons such as not receiving the letter, or being unable to attend the face-to-face counseling sessions held in Tartu. "Therefore, we are really grateful to those of the biobank participants and their relatives who joined the study," added Plover.

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Source-Eurekalert