Genetic testing: Are we using it too much?

When genetic testing first identified BRCA 1 and BRCA 2 — the genes that increase a person’s likeliness to develop breast cancer — only one company provided the expensive option.

But the U.S. Supreme Court ruled in 2013 that the company that developed it, Myriad, could not patent it, so gene tests became more widely available and less costly.

In response, health care professionals have to balance the demand for it with the actual need for it in order to keep health care costs low.

“More and more people are being counseled now. What we want to do is test people who should be tested,” said Dr. Diana Addis, a breast surgeon at Summit Medical Group. “A lot of people come in and say (they) want gene testing.”

Sometimes, patients walk in with no history because they saw an example in a friend or heard a story about someone with no genetic history of developing breast cancer, she explained.

“We can’t test everyone. We will bankrupt, even more quickly, our health care systems,” Addis said.

But to avoid over- or under-testing, Addis said there are guidelines to help determine who should be tested, and how and when insurance companies will reimburse for a test.

The way the testing works is by identifying any of the naturally occurring tumor suppressor genes that have proteins whose jobs are to repair any damage to a person’s DNA — which can occur naturally as cells divide or when there is exposure to toxins or radiation in the body.

When these genes are defective, or not repairing as they should, they are identified as having cancer-positive qualities.

And, once identified, it is much easier to determine the likelihood of other cancers, such as pancreatic or prostate, according to Dr. William Diehl, also a breast surgeon at Summit Medical Group.

The benefit is that anyone with a family history can be tested, but someone without the disease or a family history cannot benefit in any way from the test, Diehl said.

The key is counseling and ensuring that the right people are tested, he said, echoing Addis.

While gene testing has been beneficial for the detection of cancers, it has also been moving into controversial territory with infertility.

Addis said that in the past couple of years, fertility clinics are able to literally “breed out” breast cancer with a pre-implantation process.

The process of embryo screening, which was once used to detect fatal genetic disorders, is now being used to find and identify the cancer-causing genes at the earliest possible stage in life. If identified, it can be discarded and a different embryo can then be implanted.

But for better or worse, the genetic testing has significantly changed the detection and treatment of breast cancer.

For health care facilities, it is important have infrastructure to address all of the issues related to breast cancer, and genetics is one of them, Diehl said.

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