A new study has found that 80 percent of people who have an identifiable genetic risk for cancer due to a mutated BRCA1/2 gene don’t know they’re at risk.
The Risk
The BRCA1 and BRCA2 genes normally help prevent cancer. But a slight mutation in one of those genes can put you at an increased risk for developing breast, ovarian, prostate, or pancreatic cancer.
Mutations in those genes can be detected by genomic screening. Detection can give individuals an opportunity to increase their preventative measures and it gives them a much better chance of an early diagnosis.
Unfortunately, most people don’t go through routine genomic screening. In fact, most only do it after a close family member has been diagnosed.
“It usually takes a tragedy for people to get tested.” – Michael Murray, Yale School of Medicine
The Study
The Geisinger Medical Center, located in Pennsylvania conducted a study to determine individuals risk for cancer and their knowledge of that risk. They screened 50,726 people. Of those, 267 possessed a BRCA risk variant. Of the 267, only 17.9% knew they had a risk. Of those who had identifiable risk, 16.8% were already living with breast, ovarian, prostate, or pancreatic cancer.
Those individuals who knew they had a risk variant had previously had clinical BRCA1 and BRCA2 testing, prompted by personal or family history. The remaining individuals in that group were more likely than the other 50,726 people in the study to have a family history of the cancers, they were simply unaware of it (53.4% vs. 28%). Additionally, there was a group of 89 individuals who had a detailed family history of cancer but did not receive testing. 50.5% of those people met the criteria for testing but had not received it. The remaining half did not meet the criteria, despite having equal risk of being diagnosed with an early, asymptomatic cancer.
The Big Picture
Being diagnosed early can be life-changing for a cancer patient. And this screening method found five times as many individuals with a gene variant compared to the number found by traditional clinical systems.
This article isn’t meant to freak you out or make you paranoid you may be at risk for cancer. It’s simply meant to raise awareness about the possibility of being at risk. Be aware of your own risk. Consider genomic screening. Don’t wait for a tragedy.
Know your body and take control of your health. Don’t be part of the 80% who doesn’t know.
You can read more about this study here, or the full published findings here.
