BATON ROUGE, LA (WAFB) - The ever-growing world of genetic testing is enabling doctors and researchers to learn more about a patient's risk for cancer long before a tumor appears. The goal is to detect risks early to prevent cancer or improve the survivability of cancer later. Genetic cancer testing looks for mutations in a patient's genes, which are made up of DNA.
"If we have a mutation in a gene that normally protects us from cancer, then we're more likely to develop cancer than other people," explained certified genetic counselor, Hillary Wienpahl.
As a certified genetic counselor at Woman's Hospital, Wienpahl works with patients who are undergoing genetic testing by first collecting a detailed family and medical history. Based on that information, Wienpahl can determine what genes may need to be checked.
For example, if a woman has a long family history of breast cancer, tests will likely look for a now well known mutation that occurs in the BRCA genes. Scientists have found that BRCA gene mutations can increase the risk for breast and ovarian cancer in women and even prostate cancer in men.
"If we do identify a gene mutation, I talk about what that particular gene is, what the associated risks are, and what we're going to do with the individual and the family to keep them as healthy as possible," said Wienpahl.
Options after testing may include recommending extra cancer screenings or screenings earlier in life. Woman's uses a blood sample from the patient for testing, which Wienpahl explains provides a more accurate DNA sample. The testing is completed in an off-site lab and results are back in about two weeks. Cost can vary depending on health insurance policies, but Wienpahl says it's usually no more than a few hundred dollars out of pocket.
However, for the first time, the FDA approved an at-home test through the company, 23andMe. Known for their ancestral testing, 23andMe now offers health screenings through saliva samples. According to their website, their tests can check for several different genetic risk factors, including mutations in the BRCA genes. More information can be found here.
The 23andMe health screening uses saliva and the test kit is mailed directly to the patient. Results come back in about six to eight weeks and costs around $200.
Wienpahl sees a lot of potential in what she calls "direct-to-consumer testing," but she says there are some precautions consumers should consider. While it may be innovative, Wienpahl points out the 23andMe test only checks for three specific BRCA mutations out of thousands of possible mutations. Also, BRCA gene mutations are not the only genes linked to cancer risk.
"If an individual does this 23andMe BRCA gene testing and they get a negative or normal result, that does not necessarily mean that individual is not at increased risk for cancer," said Wienpahl.
She added it's recommended that any at-home test results be confirmed by a doctor. Also, out of all reported cancer cases, only about 5 to 10 percent are linked to a genetic mutation, so the genetic testing is not necessary for everyone.
According to Woman's, patients who might consider genetic testing are thsoe with a prevalent family history of a certain type cancer, someone who was diagnosed with cancer early in life, individuals who have had more than one type of cancer, or someone whose family has had cancer cases in multiple generations.
More information can be found here.
Finally, Wienpahl says it's important to remember that genetic cancer testing is just one part of cancer risk assessment, and that regular checkups and screenings are still vital.