More that 80% of those who are genetically predisposed to have cancer are unaware about their risk, a study of over 50,000 people has found.
In the absence of routine screening, most people only discover they carry cancer-associated variants in the BRCA1 or BRCA2 genes when that person or family members receive a cancer diagnosis.
“As a colleague said, it usually takes a tragedy for people to get tested,” said Michael Murray, professor at Yale University in the US.
“Our reliance on a documented personal or family history as a trigger to offer testing is not working. Hopefully, one day we can change that with effective DNA-based screening for everyone,” said Murray.
The mean age of subjects in the study was 60. Two hundred and sixty-seven of those screened possessed a BRCA risk variant, yet only 18% of them were aware they possessed this risk factor for cancer prior to being informed by the study.
Among the group of living BRCA-positive patients, 16.8% of them had a BRCA-associated cancer. In the small group of BRCA-positive patients who had died before the study’s conclusion, 47.8% of them had a BRCA-associated cancer.
“Once risk is identified, we can apply proven tools for early diagnosis and prevention, and we believe that the 31% difference in cancer incidence in these two groups is a window into an opportunity to decrease cancer and cancer deaths through genomic screening approaches,” Murray said.