Genetic Testing

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Would You Get A Test Now That Confirmed a Fatal Illness Later?

A young Kristen Powers is held by her mother, Nicola, while her father looks on in the background. Nicola was later diagnosed with Huntington’s disease, a fatal illness. (Photo courtesy of Kristen Powers)

A young Kristen Powers is held by her mother, Nicola, while her father looks on in the background. Nicola was later diagnosed with Huntington’s disease, a fatal illness. (Photo courtesy of Kristen Powers)

By Ravali Reddy, Peninsula Press

If you had a 50-50 chance of inheriting a genetic disease, would you get tested to know? Or would you wait for fate to reveal itself years later?

Would your decision change if you knew the disease slowly takes away the ability to walk, talk, and even think?

What if there were no cure?

“I’ve always wanted to travel, and I knew that that was something I’d have to do earlier if I tested positive.”
Kristen Powers posed those questions aloud and then let them hang in the air as she spoke to a dozen middle and high school students. The slender, 19-year-old Stanford University freshman was taking part in a program where undergraduates teach classes on topics of their choosing. Today’s class — “To Test or Not to Test? The Ethics Behind Genetically Inherited disease” — covers a subject that Kristen knows far too much about.

“How many of you know what Huntington’s disease is?” she asked, only to find herself met with a mostly blank faces. Continue reading

Insurers Balk at Some Rare Genetic Tests for Breast Cancer

By Michelle Andrews for Kaiser Health News and NPR

Angelina Jolie's decision to have a double mastectomy after genetic testing has prompted a discussion about which other tests should be covered. (Gage Skidmore/Flickr)

Angelina Jolie’s decision to have a double mastectomy after genetic testing has prompted a discussion about which other tests should be covered. (Gage Skidmore/Flickr)

When it comes to inherited genetic mutations that increase the risk of breast cancer, BRCA1 and BRCA2 get nearly all the attention.

Inherited mutations in these genes cause from 5 to 10 percent of breast cancers as well as up to 15 percent of ovarian cancers, according to the National Cancer Institute.

There are other, rarer genetic mutations that also predispose women to breast cancer.

Other genes besides BRCA1 and BRCA2 may have mutations that predispose a woman to breast cancer.
Health insurers that cover BRCA-related testing and treatment without a hitch sometimes balk at providing coverage in these other instances. The predictive value of some of those variations isn’t always as strong or clear-cut.

When Angelie Jolie said earlier this month that she’d tested positive for a particularly harmful BRCA1 mutation and had a double mastectomy to substantially reduce her risk of getting breast cancer, she didn’t mention her insurance coverage. Continue reading