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UNC researchers push for new health screening strategy

Posted March 26, 2013
Updated March 28, 2013

— 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.

new screening strategy UNC researchers push for new health screening strategy

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.

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  • whatelseisnew Apr 1, 6:38 p.m.

    "That strategy would be great- if it didn't mean your insurance premiums may go up as a result.While that may not apply to people who are on an employer-based policy, for the folks who carry individual policies the impact could be quite significant."

    Many employer policies now require the employee to pay part, if not all of the premium. These tests might be a lot more meaningful then almost all of the tests that they currently do as part of so-called well care. I personally knew several people that died the same day they had just received a clean bill of health from their Doctor. They simply had a condition that was not detectable by the types of checks the Doctors did. Perhaps initially this type of testing could be an add-on option to insurance, just as maternity care is optional, or at least it is for me right now. I am not sure if ObamaCare forces that coverage to be included in all policies. I hope not.

  • happymom Mar 28, 9:36 a.m.

    That strategy would be great- if it didn't mean your insurance premiums may go up as a result.While that may not apply to people who are on an employer-based policy, for the folks who carry individual policies the impact could be quite significant.