Just as recently as a few decades ago, many common health screenings were not readily available. Mammography, for breast cancer detection, wasn't a regular part of medical exams until the mid-1970's when the American Cancer Society advocated for their use. Other cancer screenings were not routine either, like a colonoscopy for rectal cancer. It's been proven time and again in research that early detection in many tumors can produce better outcomes for patients, and lower the deaths from many forms of cancer.
Some patients are at a higher risk for certain cancers based on their genetics. Patients who carry a BRAC1 or BRAC2 genetic mutation are at a much higher risk of developing breast, ovarian, prostate and pancreatic cancer, but an astounding 80% of these patients had no idea of their increased risk. These were not patients with low access to health care or insurance. They were patients who had regular interaction with the health care system, in hospitals, clinics, and doctors office, thousands of patients had no idea their risk was higher than normal
Most patients find out they have a genetic abnormality when a family member is diagnosed with cancer. Testing is commonly offered to family relations of patients who have the disease. If someone knows they have a genetic risk factor, they can make decisions about proactive measures like hysterectomy, mastectomy and increased the frequency of screenings.
Michael Murray, professor of genetics at Yale School of Medicine is the senior author on the paper. He stated, "As a colleague said, it usually takes a tragedy for people to get tested. "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."
The study was conducted at Geisinger Medical Center in Danville PA. The mean age of subjects in the study was 60 years. The numbers showed that 267 of those participants who were screened had a mutation of a BRCA gene, which is called a "risk variant" since it translates to an increased risk for cancer. Of these 267 patients, only 18% were aware that they carried the risk variant. That means that 82% of those who have a higher likelihood of getting cancer have no idea about a crucial part of their health. For reference, 16.8% of patients in the study who tested BRCA-positive developed a BRCA related cancer. There were a few deaths during the study period, and 47.8% of those deaths were from BRCA-related cancers.
While medical advances in treating disease mean fewer deaths, prevention is also an essential part of health care. Genetic screening is not yet routine, but Dr. Murray explained why it should be, stating, "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." See the video below for more information.