Chapel Hill, N.C. — University of North Carolina at Chapel Hill researchers are leading the push for a new health screening strategy that would allow people to find out if they are at risk of a rare genetic mutation or preventable disease, such as colon or breast cancer.
Dr. James Evans, director of UNC's Clinical Cancer Genetics program, says it's time that public health strategies include genetic testing for mutations in healthy adults. It could happen when they see their doctor for routine exams and blood tests.
“We will also talk about sequencing a suite of genes that, if you carry mutations in those, there are very valid evidence driven things that we can do to prevent disease in you,” Evans said.
Evans published a commentary in an issue of Genetics Medicine pushing for genetic screening, but only for inherited diseases which are preventable if identified early.
Clinical pharmacist Lacey Lee, 35, says she became interested in medicine as a teenager after watching several family members fight cancer.
“My grandfather died before he was 45, of G.I. cancer,” she said.
Colorectal cancer appeared throughout her family tree. Her mother is a 27-year cancer survivor, and her brother was diagnosed with small bowel cancer at age 45.
Lee's research led her to the possibility of Lynch Syndrome, a rare genetic mutation that dramatically increases the risk of colorectal cancer. Most people don't know they have the mutation until after they're diagnosed with cancer.
“I went forward for genetic testing, and I actually do have the same gene alteration,” she said, noting that she now gets annual colonoscopies.
There are other mutations that predispose people for other preventable diseases, such as breast cancer and several catastrophic blood vessel disorders.
“We now have the technical ability to identify the people who carry these mutations,” Evans said.