This spit-in-a-tube DNA test could save your life

The Food and Drug Administration has finally approved a mail-in DNA-testing kit for three mutations in the breast-cancer genes BRCA1 and BRCA2.

It’s not just news, but important news, that the $199, spit-in-a-tube test that could save your life no longer requires a doctor’s prescription.

Women and men with a pattern of any one of the five BRCA-related cancers — breast, ovarian, prostate or pancreatic cancer or melanoma — in their families should consider getting any one of the available tests.

Yet doctors and FDA officials have long been irrationally worried about women getting so freaked out by inaccurate genetic testing results that they’d have prophylactic mastectomies before seeking confirmation or medical advice, though how that would even be possible is hard to fathom.

That’s an especially preposterous concern given that those who do have one of these mutations have an up to 87 percent chance of actually getting breast cancer and a 44 percent chance of developing ovarian cancer. Armed with that information, they can take steps to reduce that risk to near zero.

Five years ago, doctors worried that women would flock to have “unnecessary” mastectomies after Angelina Jolie tested positive for a BRCA mutation and had a prophylactic mastectomy.

Also in 2013, the FDA forced 23andMe, which makes the just-approved test, to stop issuing risk assessments for breast cancer mutations, warning that “if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening.”

Even now, FDA officials seem more worried about that people will get the potentially life-saving test than that they won’t: “While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test,” said Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health.

That’s one way to look at it, but about 10 percent of women diagnosed with breast cancer do carry one of these mutations — and with one in seven women diagnosed with breast cancer at some point in their lives, that is a lot of women, and a lot of lives lost that didn’t have to be.

Though a blood test has existed since the ‘90s, doctors have typically ordered genetic testing only after a cancer diagnosis — yes, when the risk of cancer is a solid 100 percent.

23andMe tests for only two mutations in BRCA1 and one in BRCA2. All of those three are most prevalent in, but certainly not limited to, the Ashkenazi Jewish population.

A negative result for that or any other test does not mean you won’t get a BRCA-related cancer. It doesn’t mean you don’t carry any other BRCA mutation, either; there are more than 1,000 known mutations.

For decades, women have been conditioned to fear the testing, and told that the only real preventive option for those with the mutation was to “cut off” your breasts with the kind of prophylactic mastectomy that Jolie had.

But that’s not the case. Regular ultrasound, MRI screenings and other careful monitoring can catch the cancer much earlier than routine screening would. Cancer caught early is almost always treatable.

Prophylactic mastectomy is not disfiguring surgery. Breast tissue is replaced, the same as in a hip or knee replacement, and the way we’ve talked about “mutilation” is long out of date.

What’s scarier than knowing is not knowing, and then learning too late.

This story was originally published March 9, 2018 at 10:33 AM with the headline "This spit-in-a-tube DNA test could save your life."