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Updated Breast Cancer Genetic Testing Guidelines from the American Society of Breast Surgeons Are a Good Idea

As an advocate and someone personally impacted by genetic testing in a huge way, I read with great interest the announcement from the American Society of Breast Surgeons that Dr. Deanna Attai shared about in a recent blog post titled, Updated Breast Cancer Genetic Testing Guidelines.

Read the guidelines in full here. They are worth a close look.

You might also want to read, The Day I Found Out I am BRCA2+

The new guidelines put forth are a big deal and therefore, of course, not without controversy. Debate has definitely begun.

The new guidelines recommend that genetic testing for BRCA1 and 2 mutations and PALB2 mutations and other genes deemed appropriate based on clinical evaluation and family history be offered to ALL newly diagnosed breast cancer patients. Yes, all.

This a bold recommendation and one I fully support.

Going even further, I support universal genetic testing, specifically for BRCA1 and 2 mutations, for any woman who wants it. Because why wait for cancer to strike?

This is a different topic, yes. But the same question runs through both – what good does sitting on information that could potentially save lives do? 

But back to these new guidelines…

Why not get another piece to the puzzle to help ensure that newly diagnosed breast cancer patients, their doctors and their families have the information to make more informed decisions about treatment options?

Options are good, but first patients need to be aware of them.

In addition, the new guidelines also recommend that some patients tested before 2014 should be re-evaluated and updated testing considered because testing prior to that would likely not have included PALB2 and other potentially relevant gene mutations that can be looked at today.

If this applies to you, be sure to do some investigating, don’t be put off, allow your questions to be dismissed or accept the implication that maybe you shouldn’t spend so much time on the internet. (This happens.)

Why does all this matter?

Because a significant number of breast cancer patients who are carriers of actionable mutations are not being identified. As concluded in this recent report via Journal of Clinical Oncology:

Our results suggest that approximately 45% of patients with breast cancer with clinically actionable germ line variants are being missed when testing is restricted to patients meeting current NCCN (National Comprehensive Cancer Network) guidelines and when testing strategies are limited to panels containing only BRCA1/2 or to less comprehensive panels.

Offering genetic testing at the time of diagnosis to all breast cancer patients when deemed appropriate just makes sense. It could drastically alter surgery and other treatment decisions. It could save lives. However, it’s also worth stressing, these are guidelines that won’t necessarily apply to every patient.

On an anecdotal note, if such guidelines and subsequent testing had been available options for my mother at the time of her breast cancer diagnosis, things might have turned out very differently for her.

So why the debate?

A few concerns I’ve seen noted that are out there include:

  • Even though cost of genetic testing has come down in recent years, it’s still a cost.
  • Genetic counseling before and after testing is recommended, and there’s a shortage of qualified professionals to offer it.
  • There is concern too many women will choose prophylactic surgeries not deemed medically prudent.
  • Genetic testing is just a tool, not a directive on what an individual patient should do with learned information. There won’t necessarily always be clear answers about what to do with information learned.
  • Patients might assume a negative test means they’re in the clear regarding developing cancer, which is not necessarily the case.
  • Genetic testing may reveal a variant of uncertain or unknown significance (VUS).

Without a doubt, we are moving closer to the time when genetic testing will be done with an even broader scope. Someday, it will likely be part of standard of care when diagnosing and treating cancer and other diseases as well. We’re inching our way there. Undoubtedly, there will be controversy and problems with implementation along the way.

But what else is new?

Ultimately, broadening the scope of genetic testing is a good thing because it can potentially save lives and provide clearer insights for doctors, patients and families during difficult decision making times.

The new guidelines put out by the American Society of Breast Surgeons seem like a logical next step and a good one at that.

Note:  As always, if you have concerns and questions, be sure to speak with your doctors, and don’t settle for anything less than the answers you deserve.

Recommended read:  This piece from the Washington PostBreast surgeons say all breast cancer patients should be offered genetic testing, is worth a read to get a handle on what the updates mean as well.

Recommended read:  Breast Reconstruction and New Genetic Testing Guidelines

If you want to read more articles like this one, Click Here.

What are your thoughts about the new guidelines?

Have you had genetic testing?

Have you had any genetic testing redone or updated?

Featured image above used under CC licensing.


Updated #BreastCancer #GeneticTesting Guidelines Are a Good Idea #cancer #womenshealth

Green Monkey

Monday 25th of February 2019

Hi Nancy, Remember me ?!? :)

After 6 primary cancer diagnosis's (DCIS right, PRE-DCIS left, 3 melanoma's, rectal cancer) I finally had additional genetic testing done. My results are in - CHEK2 mutation - c.1100delC c.1263delT

I also had a hysterectomy 2 years ago after they discovered a suspicious cyst that turned out to be benign. YEAH! I am not BRCA positive.

I've been absent for some time. Just monkeying around. Keeping my chin up!

Still digesting the news. Feel empowered. Validated. No more "WHY???" questions.


Tuesday 26th of February 2019

Green Monkey, Yes, of course, I remember you! I've wondered how you're doing. I'm glad you had some additional genetic testing done. There are so many more genes and mutations to look at now besides BRCA ones, though, of course, some are actionable and some are not. I'm glad learning your results has made you feel empowered and validated. And I'm really glad you stopped by to share about your experience with testing. Great to hear from you!

Lisa DeFerrari

Thursday 21st of February 2019

Hi Nancy, I'm glad to see these new guidelines have come out. I didn't choose to have genetic testing when I was diagnosed as there was no history of breast or ovarian cancer in my family, though there was a history of several other types of cancer. But it seems the science has come a long way in recent years, and there is more information that can be gleaned from testing than in the past. In 2017, after meeting with a genetic counselor, I decided to have a common hereditary cancers panel test, which tests for 42 genetic mutations related to a variety of cancers. No mutations were found but there were two variants of uncertain significance. One thing I hadn't been aware of and was glad to know was that it's not just a point in time test and that's the end of story--the testing company and genetic counselor will let you know in the future if there are any new findings that are relevant to you. Thanks for writing about the new guidelines, Nancy. I think this is very good news.


Friday 22nd of February 2019

Lisa, I'm glad you had that expanded testing done. Yes, those mysterious variants of unknown or uncertain significance are just that, mysterious. And frustrating. It is good to know that a person's test can be updated - for some anyway. Not sure about mine as it was very specific. I always wonder if a person can be BRCA+ and also have another mutation. No one ever addresses that, that I've seen, and I'm not even sure who to ask. Thank you for sharing your experience with this.

Lisa Valentine

Wednesday 20th of February 2019

Thank you for this timely piece and pulling together some of the information for those of us who maybe wouldn't have done the research on our own. I am in the process of seeking genetic counseling (which I have not had before) and getting updated genetic testing (last done at the time of my diagnosis in 2008.) With two sisters already diagnosed with BC, one of whom now has MBC, and a large family, more information is worth seeking. Thanks Nancy!


Friday 22nd of February 2019

Lisa, I think you're doing the right thing in seeking genetic counseling and perhaps getting updated testing done as a lot has changed as far as what gene abnormalities can be looked at now. The new guidelines explain things pretty well. I hope you get some answers, but even if you don't get clear ones, there does seem to be a familial risk factor of some sort going on in your family that may (or may not) be identifiable. More information is definitely worth seeking. Good luck. Keep us posted. Thank you for sharing.

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