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MIAMI (CBSMiami) — Genetic test kits have become a popular holiday gift. While many are curious about their family background, some tests can also give a better idea of potential health problems. Sara Altschule says the test may have saved her life.

When she received a 23 & Me genetic test as a gift, she was eager to find out more about her health.

“I wanted to see if I had the Alzheimer’s gene because that runs in my family,” she explained.

Instead, her test revealed she carried a BRCA gene mutation, greatly increasing her risk of breast cancer.

“It’s just a lot to process because one day you think you’re healthy and then you’re still healthy but you have this really high risk.”

A follow up with a genetic counselor confirmed her results.

“My cautionary note is, do you really want to know?”

Dr. Gail Vance from the College of American Pathologists said while these popular tests can be potentially lifesaving, consumers need ask some serious questions first.

“This might be information for yourself, but truly its information for your family as well. And maybe your family members don’t want to know about this,” said Dr. Vance.

Dr. Vance also stressed following up with your doctor to interpret the results.

“Say, okay. You know me. You have all my numbers and the charts. How does this fit into my healthcare plan?”

Altschule chose to have a preventative double mastectomy over the summer.

“Now my chances of developing breast cancer is under one percent,” she said.

She’s sharing her journey on social media.

“I decided to talk about the good, the bad, the ugly through all this to help people understand what it means to have the mutation, to help other women.”

Dr. Vance also says consumers should make sure an accredited lab is processing the test to ensure quality results.


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