PALB2 Testing Experimental?

There are companies you can do the testing through that have a maximum 100 out of pocket guarantee whether your insurance rejects it or not. With your history you should qualify. Let me look at the file and see if I can find the company that did mine.

I have united healthcare insurance and they paid for Ambry's "breastnext" panel which included PALB2 testing along with other gene testing. I had the Breastnext panel done over a year ago. I was previously tested for BRCA mutations and came out negative. I, like you, have a family history of bc and a previous bc diagnosis.

Just some thought on this topic:

Could it be that PALB2 testing in and of itself is not considered experimental by united healthcare but the reasons presented, in your specific case, for testing beyond BRCA were not compelling and therefor testing was considered experimental? (Just a guess on my part.) If that is the case a genetic counselor may help.I went to a genetic counselor who took my family history and wrote an report presented to the health insurance company to justify extended genetic testing. (I think that insurance laws have very recently changed and that after a bc diagnosis a genetic counselor is now paid for by health insurance and may be required by United Healthcare before testing is authorized. You might want to check into this.)

I was told that in my case Ambry is "in network" for united healthcare. See list below for what insurance is in network.

http://www.ambrygen.com/insurance-lists-region

I absolutely wanted the additional genetic testing even if insurance did not cover the cost . Because of this I looked into payment without insurance. Know that (if it comes to it) the price for self pay is generally much less than the listed cost. Other option (though i have no personal experience) is Color Genomics who charge a very modest free ($249) for a panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53.) without insurance (though right now Color won't ship kits to Maryland or New York.)

https://getcolor.com/

There are women on these boards who have used Color Genomics.

I had the genetic testing through myriad and was told by the breast health navigator that drew my blood to send, that myriad would contact me if I had to pay anything out of pocket over 175 dollars. Weeks later, I got a letter in mail from blue cross saying it was experimental. I called the navigator and asked if ordering oncologist would appeal. She called back and said I have a zero balance with them and to let her know if I get a bill from myriad. Then I got eob from blue cross that they paid for 2 parts of the testing, but not for other that showed balance of 1800 dollars after blue cross paid them almost 2000 dollars. No one told me how expensive all this was and i will be some upset if I get that Bill. I am happy to know why i got cancer at 41 and that it may be because of the unknown variant of palb2 gene, but I would never had the testing if I would have known all I would have to go through, especially after I found out the results won't change my treatment plan anyway

I found out that they have me as a negative bill, the insurance, as it is, paid them almost 2000.00 dollars for a part of the test but considered part of it experimental but they never billed me I'm guessing it's because they are supposed to call you if there is any charge over a certain amount. A friend of mine that worked oncology for years, stated that they will usually write the rest of it off. I haven't gotten a bill yet , thank God!!

Some of the lab companies will only bill for the BRCA I & II even if they do an expanded panel. I'm not sure how that would affect you since you have already had BRCA testing. The genetic counselors usually know which lab companies are best to work with. I have Cigna and the AmbryGen Cancer next was covered 100% due to my family history. I came back PALB2 positive with an unknown variant on RAD51C. Insurance still does not recognize PALB2 yet. I can get a PBM based on family history, but a BSO will not be covered.

What gets me is that there are plenty of people tested for BRCA 1/2, but insurers fight for the extended testing. From what I've read, the PALB2 works with BRCA 2 to repair DNA. We have up to 35 percent chance of getting cancer before 70 versus 40 to 70 percent for BRCA 1/2. If more people would be tested, I think they would find this mutation almost just as dangerous as the others. Some places are now recommending to test PALB2 with the BRCA1/2. I will be so happy when they find out more info for sure!!!!! I would love to know if I should have had mastectomy vs lumpectomy.

Thinking Positive - PALB2 stands for Partner And Localizer of BRCA 2. Loving Grouch's description of its role is right on point. BRCA2 and PALB2 are involved in repairing genetic damage in different roles, of course.

The problem comes when there are defects, damage or other mutations in one of these genes. Some are minor and cause no issues. The impact of other mutations is as yet unknown - they may or may not promote cancer-inducing changes. Some of these are labeled VUS (Variants of Unknown Significance). In many genes, VUS are more likely to be benign changes than deleterious. Different mutations within the gene are all identified, with some of them being VUS, others labeled moderate risk and yet others as high risk.

With PALB2 deleterious mutations the risks are impacted by family history and age at diagnosis. If I remember correctly, I was told that the range was from 35%-58% chance of breast cancer by age 70. Some studies have quoted a higher upper end of the range while using a higher cut off age.

With some other, better studied, genes they are close to reaching the point where they can look at a person's exact mutation and know whether it raises their risk for, say, ovarian cancer but not breast cancer (or vice versa). Obviously, the research is nowhere near that yet for PALB2.

If your report doesn't provide much insight into the meaning of that VUS you should talk with your genetic counselor or MO and try to obtain as much insight as possible. If you did your test through Color Genomics, I believe they include a phone consultation with a genetic counselor as part of the package and that might be very helpful to you. Knowledge is power but incomplete information is frustrating!

The website FORCE (Facing our risk of cancer empowered) has some useful information although at this time it's still primarily focused on BRCA 1/2. Still, you might find something helpful there.

Of course it concerns you! Even though you have a VUS rather than a confirmed deleterious mutation it would be reasonable to have a discussion with your MO or PCP and consider a request for a consult with a gastroenterologist specializing in pancreatic disease. Pancreatic cancer is an ugly disease; if we can ward it off or nip it in the bud, that's a huge plus.

Your sister's unfortunately probably at increased risk due to her history of pancreatitis but maybe she should seek testing, if she's not already done it. There are screening protocols for those at elevated risk of pancreatic cancer that aim to catch it as early as possible - she should probably be doing that.

(Color Genomics has deeply discounted rates for family members of those who've tested positive for a mutation. If your sister or any of your other family members want testing, this can be a very cost-effective approach. It doesn't matter if your testing was done at, say, Myriad or Ambry.)

Bear in mind, I have no medical background; this simply represents what I've learned in the course of dealing with my dx. and the rest of my family.

You're welcome, Thinking +, any time. Good luck sorting it all out. And do take a look at the FORCE website - I think you'll find much of their info useful. Have an excellent weekend!

That's pretty frustrating, isn't it, LG?

I'm surprised at the number of people who aren't interested in being tested, even when they have nothing to lose (and maybe a lot to gain) by doing so. I guess there are some mind sets I will never understand.

Have a great weekend!

My dad's mom & sister have both had colon cancer. His mom died of it. When I was diagnosed with LCIS the same year as ovarian cancer there was concern on my medical team's part about a couple of genetic syndromes. I tested negative for the few genes I've been tested for, but my genetecist would really like my dad tested. He grows really big polyps fast in between colonoscopies. She said his polyps from the next colonoscopy could even be used for the testing. He won't do it