An end to one-size-fits-all screening is in sight…

Finally, researchers have taken a big step forward in developing a more personalized approach to breast cancer screening.

As you may recall, I’m not a huge proponent of mammography. There are just too many studies coming out that question the benefits, as I discussed in a June 2014 Reality Health Check.

In short, I’ve always urged patients to think outside the mammogram. And I’ve always been conservative with my recommendations.

In the past, I’ve generally recommended that women without a strong family history of breast cancer get a baseline mammogram at 45, followed by screening every two years after the age of 50. And to consider alternatives like ultrasound, which is actually my No. 1 recommendation for breast cancer screening.

Ideally, I believe a more personalized approach is best. Which is why I’m excited to share the news of this new test. While it’s still in development, and not in clinical use yet, the initial results are encouraging, and it takes advantage of many of the more personalized data points available to practitioners and patients.

Researchers used what they’re calling the polygenic risk score (PRS). And it can be used to predict a woman’s risk of developing breast cancer, especially when combined with information about breast tissue density and family history.

As you know, a number of factors are associated with an increased risk for breast cancer. High breast density is a very important consideration. It reduces the sensitivity of mammography and directly contributes to risk. Especially when medical “professionals” often refuse to do an ultrasound of the breasts, which can often help with the sensitivity of that test.

Then we have more than a dozen single genes (such as BRCA1 and BRCA2) that, when mutant, cause cancer susceptibility and raise overall cancer risk.

The new PRS looks at 76 single-nucleotide polymorphisms (SNPs) that may increase risk of breast cancer. SNPs (pronounced “snips”) are the individual genetic components that studies have shown may increase in the risk of a certain disease.

The researchers looked at data from 2,397 healthy women and 1,643 breast cancer patients. They found that the PRS and breast density are independent variables. But, for women with extremely dense breasts, PRS further helped determine risk. The risk for breast cancer was more than two and a half times higher in women with extremely dense breasts and a PRS in the highest quartile, compared to women with less-dense breasts and an average PRS.

In addition, adding genetic information from the PRS to their five-year risk prediction would have placed 11 percent of the women who eventually developed cancer into a higher risk category and would have qualified them for more intensive care earlier on.

Now, I won’t get into what I think of “more intensive care” today. I’ve written before about this , as well as over-diagnosis and overtreatment of the disease at early stages.

But despite that, it’s important for you to know that, even though I’ve long criticized overtreatment, I still advocate for a better system of testing. So those who truly do need treatment get it. And those who don’t aren’t over-exposed to the risks of endless screenings and the risks of misdiagnosis.

It’s encouraging to know we are making progress. Until this test hits the market, however, review my past Logical Health Alternatives newsletter article, “A safer way to navigate the ‘brave new world’ of breast cancer screening,” . Subscribers can access this issue — and the complete archive — by visiting and logging in to the Subscriber area of the website. And if you’re not already a subscriber, you can sign up here today.


Polygene Test Can Predict Risk for Breast Cancer. Medscape Medical News, April 14, 2015.