CNN Article: Breast cancer testing guidelines are out of date, missing genetic screening

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As genetic testing for inherited cancer predisposition syndromes becomes more mainstream, so too do studies attempting to determine whether today’s testing guidelines are up-to-date. CNN recently reported on a study published in the Journal of Clinical Oncology (Beitsch et al, 2018) where researchers are doing just that.

According to the American Cancer Society, approximately 330,000 people are diagnosed with breast cancer every year in the US. And as those of us in genetics careers are well aware, about 10% of breast cancer is thought to be a result of that individual having a predisposition to cancer that they were born with. Most of that risk is attributed to two genes, BRCA1 and BRCA2, but over the years many other genes associated with breast cancer risk have also been identified, and there are surely more to come.

Unfortunately though, most people who’ve been diagnosed aren’t getting tested for these susceptibility genes, as they are often ordered only for people who meet specific guidelines for testing. Those guidelines are developed by reputable groups (the National Comprehensive Cancer Network to be specific), and those guidelines are generally what insurance companies use to approve or deny coverage to their members. Since genetic testing costs hundreds to thousands of dollars depending on the lab you use, that leaves a large portion of people left to make one of two choices: stomach the out-of-pocket costs themselves, or (like most) decline genetic testing and hope that one day it’ll be covered. And that’s the men and women who are offered testing – you can imagine that many aren’t even offered the testing if they don’t meet “criteria”.

Those of you who aren’t as familiar with these genes may be wondering why this is even an issue. Guidelines are there for a reason, right? Well.. sort of. Guidelines are complicated (even the study author states this in the CNN interview), and they quickly become out of date. Medically, a woman with, for example, a mutation in BRCA1 has a significant risk of getting breast cancer again. Her siblings have a 50% chance of having the same mutation, as do her children. Unaffected women with a BRCA1 mutation have over an 80% risk to get breast cancer and over 50% risk for ovarian cancer. There are also risks for prostate cancer in men and risks for melanoma. So not knowing this information means that women and men aren’t getting access to more screening, prevention options, and aren’t provided with the opportunity of informing their at-risk relatives. Here, knowledge is power. Power to treat cancer more effectively, or prevent it altogether. And with a BRCA1 mutation, insurance even covers these options.

If we stick to the current guidelines, people who don’t quite cut it (guidelines-wise) won’t have access to genetic testing. And furthering this line of thinking — men and women who have higher risks for cancer go unidentified until they or someone in their family is able to get testing – usually because the family member gets cancer at an earlier age, the person who didn’t meet criteria the first time gets cancer again, or someone gets a rare cancer, like male breast cancer.

The Beitsch study is one group trying to change this. They tested close to 1,000 people with a current or previous diagnosis of breast cancer and looked at their results with respect to whether or not they met genetic testing criteria established by the NCCN. What did they find? There was no significant difference between the number of people who tested positive who did meet the NCCN’s criteria and those who tested positive and didn’t meet the NCCN’s criteria (see picture below, from the Beitsch article, for a visual). This led the group to postulate that, if we simply tested everyone with a diagnosis of breast cancer, we’d at least double the number of individuals identified with increased risks for cancer. And that means more people can 1) learn about their risks and 2) have options for early detection or even prevention. Not to mention – all of that is way less costly than cancer treatment – to the person diagnosed AND to insurance companies.

While the study is eye-opening with regard to breast cancer diagnoses, it doesn’t touch on genetic testing for other cancers. In addition, it doesn’t provide insight as to how common these gene mutations are in the general population. Many have suggested not just testing everyone with breast cancer, but testing everyone. Period. We probably have a ways to go before that’s accepted by payers and medical societies, but as the cost of genetic testing continues to decline, we may be there sooner than we think.

Nonetheless, the study highlights a key issue and that’s that the guidelines used by providers are failing to identify people with real, significant cancer risks. We need more research like this to show that inherited mutations are more common than we ever thought. We need to continue to increase awareness of and access to genetic testing so that people who want testing can afford to get it.

If you’re interested in learning more about genetic testing, let us know! We’d love to talk with you about your risks and testing options. Fill out our contact form here, or if you know you’re ready, schedule an appointment for a hereditary risk assessment.




  1. American Cancer Society: Breast Cancer Facts & Figures 2017-2018. breast-cancer-facts-and-figures/breast-cancer-facts-and-figures-2017-2018.pdf
  2. Beitsch et al, 2018. Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? J Clin Oncol 37:1-8.
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