Genetic testing: Would you do it?

Mar 30, 2015

Angelina Jolie made the difficult choice of having her breasts, ovaries and fallopian tubes removed because genetic tests showed, without the elective surgery, she had an 87 percent chance of getting breast cancer and a 50 percent chance of developing ovarian cancer.

Jolie's mother died at 56 years old. She also lost her grandmother and aunt to cancer. In a New York Times op-ed the filmmaker and actress explained why she made that decision.

Thanks in part to Jolie, The Washington Post reported just how much genetic testing has increased:

Researchers, who collected data from 21 major clinics, saw referrals increase 250 percent —peaking at 4,847 in summer 2013, compared to the previous year’s June and July numbers, which capped at 1,981. “All participating centers were conscious of a more significant increase in women attending referring to the Angelina Jolie story and further, noted women seen in the past seeking updated advice on testing and risk-reducing surgery,” study authors wrote.

To date there are 20,000 genetic tests available to diagnose thousands of diseases and conditions.

One of the tests is for macular degeneration, an incurable eye disease that can cause blindness. Harper's Point Eye Associates Optometrist Jennifer Specht says a cheek swab determines the chances of the disease progressing five, ten and 15 years down the road. It also recommends a supplement, specific to the patient's genotype, that could help slow down the disease.

Dr. Jennifer Specht, Harper's Point Associates optometrist, checks the computerized summary of the macular degeneration genetic test.
Credit Ann Thompson / WVXU

After the cheek swab, she said, "we send these results to the lab and they take a look at the 15 genes we have in our body that are most likely to determine if we have macular degeneration and how advanced it's going to be."

Specht says most insurance carriers cover the eye test.

She says down the road other genetic tests could help diagnose glaucoma and cataracts.

How reliable are the tests?

Dr. Kristen Sund is a genetic counselor with Cincinnati Children's Hospital Medical Center.

She says clinical genetic testing is very reliable. But when it comes to direct-to-consumer tests,  she says "a lot of the interpretation there has been questioned because it's not clear the results are showing direct correlation with health or disease."

Sund says the biggest challenge is that "we're way ahead on the technology front.....but we're only scratching the surface of understanding that data."