At Home BRCA Testing

I got my BRCA testing kit in the mail today! It happened much quicker than I thought it would, given that most things take a bit longer nowadays.

Genetic testing kit

I quickly opened the box and read the instructions, which told me to not eat, drink, smoke (which I don’t do anyway), or chew gum for 30 minutes, so I took a quick sip of water and then set an alarm for 35 minutes out.

Once my alarm went off, I opened up the packaging to find all of the below (minus the tape; I own the tape).

I wrote my name and birth date on the sticker, opened up the plastic box to get out the testing tube, and put the sticker on the test tube. I then, in a very ladylike manner, sat in the floor of our office for about three minutes, thinking about yummy foods and then spitting my saliva into the tube. My husband, who was working from home, loved it so much that he asked me to leave twice, at which point I relocated to our bedroom (our daughter was downstairs playing veterinarian). It actually takes a slightly stupid amount of time to get enough saliva into the tube; you have to get enough to go over a designated line.

Once I spit enough saliva into the tube, then I then had to close the tube, which triggered a clear solution that had been safely ensconced behind a plastic film to be released into the fluid. I then removed one piece of the tube (the directions are pretty clear on how to do all of this), put the lid on the tub, and then inverted the tub as specified.

Instructions

I then put the tube back in the plastic, put the plastic box in the hazardous materials bag, and put the hazardous materials bag in the FedEx shipping bag. I also had to sign a form saying I was fine with getting the testing, etc. I then told my daughter we were going to go for a ride, which she got so excited about! And then we dropped the FedEx shipping bag at a drop-off location.

Wow. So much science all at once.

So now I’ll be waiting about 2-3 weeks for my testing results. I’m not too worried about the results, so I don’t think it will be on my mind much, but only time will tell.

TeleGenetics Appt for BRCA Testing

Today I had my telemedicine appointment with my genetic counselor via Zoom. For those of you who aren’t familiar, Zoom is a teleconferencing app that has become really popular during COVID-19. There are some pretty legit security questions with it, but… it is the tool we have at the moment, so… it is what it is.

My genetic counselor’s office reached out to me a few weeks ago to inform me that my appointment would be via Zoom, so I went ahead and downloaded the app at the time. I got an email from my counselors office yesterday, which had the meeting login information, a video to watch on telegenetics appointments, and general tips for having video conferencing appointments.

This is actually my second appointment with a genetic counselor. I met with one about six years ago, but decided against BRCA testing at that time because my health insurance wouldn’t cover it and my husband and I were about to start trying to have our daughter. In addition to breast cancer, the BRCA genetic mutations also have a relationship to ovarian cancer. Unfortunately, the survival rates of ovarian cancer are much different than breast cancer, leading many women to have their ovaries removed upon learning of a BRCA genetic mutation. Since we were about to start a family, I didn’t want that knowledge hanging over my head during that time.

However, it’s been six years and I am now ready to go down the testing path. This is also one of the last things I need to do before going on tamoxifen. Having a negative or a positive result from the testing could possibly raise or lower my breast cancer odds, so it is a useful tool for my doctors and I to have when deciding the preventative path I’ll be taking.

During the appointment, the genetic counselor went through my own personal health history as well as that of my family. Prior to the appointment, I was asked to fill out a family health questionnaire, which goes over who in your family has had cancer in the past. These forms are always a bit hard for me to fill out, as I’m not entirely sure of my mother’s comprehensive health history and I have no insight into the health history of my biological father or his immediate or extended family.

After talking through this, the counselor walked me through recent updates in genetic testing. During my last appointment, BRCA 1 and BRCA 2 were the only genes that they were really testing for. However, since then, there have been findings that other genetic mutations can also have a relationship with breast and other forms of cancer. We also went through a statistic I’ve always found fascinating: out of all the women who get breast cancer, around 80% have no indications they will get it, a smaller percentage (I can’t remember the number, but I want to say around 15%) have a family history, and the remainder, a very small percentage, have a correlation with one of the now-identified genetic mutations. I think it puts preventative techniques in perspective when you realize how many women who will get breast cancer don’t have the warning signs that people like myself have, and yet will still get cancer. I also feel that it goes against the narrative that we are fed on breast cancer and hope that we are able to identify a preventative path for these women as well.

With my counselor’s guidance, I’ve decided to move forward with testing for BRCA 1 and 2, as well as the other genetic mutations that have been identified to correlate with breast and/or gynecologic cancers. To get the testing done, I’ll have to sign some paperwork sent to me by my counselor. She’ll then arrange for the testing company to send me the test, which requires a saliva sample, to my house. I’ll do the test at home and then send it in. The lab will take about 2-3 weeks to do the testing, at which point I’ll get a phone call and/or appointment from my counselor.

My counselor explained that there are three possible results for each genetic mutation. The first is a positive test, which could possibly raise my breast cancer odds, although it could have no impact on my current odds. The second is a negative result, in which case my odds could be lowered, but the models would need to be re-run. The third possible result is similar to that on a non-statistical difference, which is treated as normal human variation and would be treated as a negative result.

We also talked about what to do if I have a positive result. Both my siblings and daughter have a 50% chance of having a positive result if I have a positive result, so we talked about communicating my results with my family members. With my daughter, they like to pick the right time to share this information with minors and then allow them to choose if they want testing after the age of 18. Because different people will react to the information differently, and some people don’t want the information at all, it’s not really fair to make her do the testing before 18, unless it really is her choice.

For now, I’m just waiting to fill out the appropriate forms, get my test in the mail, and spit in a tube! 😛 Good times.

In The News: March 2020

Below is a list of breast cancer-related articles that I’ve compiled for March 2020.

• Article from the Fred Hutch organization discussing that MRIs are the best tool for screening dense breasts for breast cancer, but the cost of the MRI prevents them from being used as a primary screening tool. Thus, mammograms continue to be used as a primary screening tool, even though they aren’t the most effective for women with dense breasts.
• Article from Oncology Nursing News discussing a technique used by researchers at Stamford Hospital to identify women at higher risk for breast cancer, inform these women, and get them to sign up for and complete increased screening in an attempt to identify sooner incidences of breast cancer.
• There are a few articles this month on how and when genetic testing related to breast cancer risk should take place.
  • This article from Mayo Clinic advocates that all women under the age of 66 that have been diagnosed with breast cancer receive a recommendation to take genetic counseling, even if there is no prior family history of breast cancer.
  • Article/possible editorial (?) from the Jerusalem Times discussing what different countries’ recommendations are regarding BRCA testing among the Ashkenazi Jew population and does this guidance make sense?
• Apparently some TV show (that I’ve never heard of, but that doesn’t mean anything) will feature a story line this week where a character will make a decision from their BRCA testing results. Intriguing.
• University of Massachusetts cancer researchers are conducting a study looking at breast milk from women who have already been identified as having a BRCA1 or BRCA2 genetic mutation.
• Article on Dana-Farber Cancer Institute’s effort to match breast cancer patients with particular genetic mutations to pilot studies designed for those mutations.
• An article on how being a mother impacts the decisions made by women who have been tested positive for a BRCA genetic mutation.
• An article written by a women who finds herself at 39% risk of breast cancer and her thoughts on genetic testing.
• Article from ASCO providing guidelines for the management of male breast cancer.

Preventative Care in the Age of COVID-19

Obviously, preventative medical care has taken a backseat to responding to COVID-19 and this is entirely the right decision. Our medical system needs to focus its’ resources right now on those that need help the most.

I started seeing signs of this last week when I went in for my birth control appointment. As I was sitting in the waiting room for my appointment, the receptionists were calling patients who were scheduled to come in for non-urgent appointments and pushing all of the appointments out until May. At the end of my appointment, my doctor told me to come in a month from now for the follow-up checkup. When I called a few days later to schedule that appointment, I was told it would need to wait and they would call me back. To be honest, although the appointment is standard (I had the Paragard IUD inserted, so there’s usually a check-up just to make sure all is well), it is definitely something that could not happen or could happen via telemedicine. I’m not too concerned about the appointment and I would prefer that we keep as many people out of the building that my appointments are in as possible, as the building has a lot of high-risk patients traveling through it.

Because of these types of measures, I’ve decided to stick with my current breast cancer center for now. I called into my breast cancer center this past week and informed them that I had completed all of my pre-Tamoxifen steps, as discussed with my previous doctor, and that I was wondering if they could give me the prescription without me having to come in for an appointment. They told me that their new doctor, who will be replacing my old doctor, would be starting in early April. Since I had recently been in to see my old doctor, I could meet with the new doctor via telemedicine and she would likely give me the prescription to start my meds.

Additionally, my primary care physicians office also very quickly shut down their office and switched predominantly to a telemedicine model. While they are still taking patients in the office, they are being very particular about who is allowed to come into the office to ensure they do their part to minimize the transmission of COVID-19.

I do think it is great that telemedicine standards are being changed right now. Telemedicine is a huge tool that can help so many people “see” their doctors more often while not having to take so much time off work or travel, which can be very difficult for some people. One of the mental illness podcasts I listen to once time described situations where people spent an entire day traveling to see their doctor, because they relied on public transportation and the only route was a multi-hop route that took hours. Telemedicine is a great tool that can be used to help with these issues. I hope that the government and insurance companies keep the new standards so that telemedicine can become a regular part of our healthcare system.

In the meantime, everyone please do their best to keep everyone healthy right now. Follow your state and local government’s guidance.

Bilateral Ultrasound and Results

Earlier this week, I had my bilateral ultrasound. I’ll go ahead and give the spoiler alert- everything came back as benign!

I got my ultrasound at the same radiology center that I got my mammogram and my MRI, so the initial routine was pretty similar. Go into the center, sign in, wait for awhile, sign a few forms, wait for a while, and then go back to the locker area. I changed into the gown and locked my things up (although, in the days of COVID-19, I’m thinking this joint locker system is a bit of a shortfall, especially in a situation where people can have compromised immune systems). I then got called back into the room.

Many women are already familiar with ultrasounds due to the pregnancy thing; this was a pretty similar situation. I laid down on a table, where they then put gel on my chest and used the magic ultrasound wand to locate the nodes previously identified through both my mammogram and MRI. In order to enable this, I was asked to either lay flat on my back or slightly on my hip leaning to either side. This got a little uncomfortable, as I was in this position for maybe a full five minutes, but nothing huge. As I was getting an ultrasound on both breasts, they first focused on one breast and then moved to the other.

Before starting the ultrasound, the technician surprised me by saying that the doctor would review the results immediately after the exam and I would have an answer before I left that day. That is super awesome! So, true to her word, after the ultrasound was complete, she left to go talk to the doctor. She came back maybe ten minutes later, informing me that everything was benign, which was good! Similar to the results from the MRI, it looks like all the nodes are fluid-filled cysts, which are nothing to worry about. They don’t cause any increase to my cancer risk and don’t normally require any follow-up care at all (unless they are painful, in which case they can be drained).

With that, I headed home!

Up next on my journey, I still need to switch birth controls, which is happening next week. As a reminder, I’m switching birth controls because my current medication maybe but maybe won’t cause the Tamoxifen to be less effective. There’s not really any reason to risk this, so I’m just switching to a different medication that has no concerns in this area.

I still have to get tested for my BRCA genetic mutation. I’m a bit frustrated in this area; I’ve had this appointment rescheduled twice upon requests from the office, with my current appointment being in mid-April. I don’t have to get my BRCA results back before starting the med, so that shouldn’t really be a problem, but it’s frustrating nonetheless.

Last, on Monday I’ll work to schedule an appointment with my new breast cancer specialist. We’re getting closer!

Because Insurance

Since getting my MRI, I’ve gotten two letters from my insurance company and/or a contractor they use. Because MRI’s aren’t a normal initial screening tool for breast cancer, and because I’m only 36 (with the non-high risk cancer population’s age for breast cancer screening beginning to 40), the fact that my doctor used my personal individual risk factors to order me a screening MRI is seen as abnormal and needs additional justification.

This is just one of the reasons I am pro-insurance improvements in the US. My doctor obviously made an educated decision based on the risk factors that are unique to me.

Obviously I hope that my breast cancer center will be able to make the case that the MRI was justified (although due to their recent poor communication, this is… questionable). Otherwise, I’ll be paying for my MRI out of pocket. While I’m in a situation that I can afford this type of out-of-pocket medical expense, there are plenty of women who can’t, and that’s a serious medical injustice. One of the best ways to save money on medical expenses is to take preventative action against conditions that result in lengthy and expensive treatments, and pushing back against MRI’s for those who it would truly benefit from them is, in my personal opinion, a stupid stance.

Detailed MRI Results

Biggest lesson for me in the past week: You really need to be your own advocate for your health.

After my MRI, I got feedback on my MRI from three different sources.

The first source was my breast cancer center. They called and said that my results were benign and they would see me at my next appointment later in the year. While this is good news, it lacks any detail whatsoever.

The second source was the letter I received from the radiology center. Here is what my letter told me:

“We are pleased to inform you that the results of your breast imaging exam shows no sign of cancer.

Although mammography is the most accurate method for early detection, not every cancer is seen on mammography. Current American College of Radiology guidelines recommend annual mammography for all women age 40 and older. Screening with mammography should continue as long as you are in good health and are willing to undergo additional testing, including biopsy, if an abnormality is detected. If you may be at high risk for breast cancer, you should speak to your doctor to decide if additional screening tests might be right for you.”

Okay, great. While this tells me I don’t have cancer, it also doesn’t do very little to to explain anything more about what is happening in my body.

My third source of information is me logging into my radiology center patient portal and reading the MRI test report.

First, let’s review my test report information from my 2020 mammogram. As a reminder, I first had a mammogram in 2016, so they’re using this 2016 mammogram as a baseline for my 2020 mammogram results. I’m adding bold font to their verbiage to highlight the parts that I care about.

“Breast Composition:The breasts are heterogeneously dense, which may obscure small masses.

Findings: There are new nodular densities in both breasts in the central region and in the upper outer quadrant region.

IMPRESSION:  New nodular densities in both breasts require additional evaluation.
Additional imaging (bilateral ultrasound) is recommended.”

Okay, so between 2016 to 2020, my breasts grew new nodular densities. That’s good to know. Using that information, let’s now go to my MRI test report. Again, I’m going to bold the things that I care about.

“BACKGROUND BREAST APPEARANCE:  There is heterogeneous fibroglandular tissue with moderate background parenchymal enhancement. This lowers the specificity of breast MRI.

Right breast: Precontrast images of the right breast demonstrate multiple scattered T2 hyperintense cysts. These are concentrated in the superior aspect of the breast. The largest cyst is at 10 o’clock centrally posterior depth and measures 2.2 cm. Note that this cyst appears to account for the mammographic abnormality in the right breast on screening mammography. Following administration of contrast there is moderate background parenchymal enhancement with multiple scattered foci. Within the right breast 9 o’clock immediately adjacent to the nipple there is a small oval enhancing area which appears to be within the skin measuring 5 mm. Recommend correlation with physical examination. This is best seen on image 299.

Left breast: Precontrast images of the left breast demonstrate scattered T2 hyperintense cysts. The largest cyst is within the lateral aspect of the breast in the 2 o’clock radian and measures 15 mm. There is no skin thickening or nipple retraction. Following administration of contrast there are multiple benign scattered foci of enhancement. There is no suspicious enhancing mass or nonmass enhancement noted.

Extramammary findings: There is no axillary adenopathy.

IMPRESSION:  The oval masses seen within the breast bilaterally on mammography represent simple cysts on MRI.

RECOMMENDATION:  Clinical management.”

Would it have been just the worst use of time ever for a medical professional to to say- “Jen, it looks like since 2016, you’ve gotten a few cysts in your breasts. According to the MRI, they appear benign. However, you still need to get your ultrasound so we can get a better look at them. Depending on the results of the ultrasound, we may decide to biopsy them. If they are filled with fluid, it’s totes benign, and we’ll likely do nothing about them, unless they cause you pain or discomfort, in which case we can drain the fluid. If they’re not filled with fluid, we’ll biopsy them to get some further information. There’s likely nothing to worry about, but we just want to make sure.”

Sigh.

If you would like more information on breast cysts, you can get it here.

Lack of Communication

I have had a series of frustrating communication failures with my breast cancer center and it has led to a decision on my part to change breast cancer centers. Let me explain.

A few weeks ago, after I had my mammogram, I logged onto the radiology center patient portal, where I found out that my mammogram results were inconclusive and the radiology center was recommending that I get a bilateral ultrasound to get more clarification on the situation. I called my breast cancer specialist to see if they indeed wanted me to get a bilateral ultrasound. After someone answered the phone, I introduced myself and mentioned the name of my doctor. At the mention of my doctor’s name, the person very casually says, “Oh, she doesn’t work here anymore.” Um…. what? We then get into the details of my mammogram results, and at the end of the call, I ask for clarification on my doctor’s status at the center, to which I am told that my doctor’s last day at the practice was to be that day. I then asked if they would be sending out any additional information regarding my doctor’s departure, and was told yes, they would be.

It has been two weeks since this very casual, unprofessional dialogue took place. I’ve received no email from the practice; I’ve received no calls from the practice on this topic. I just pulled up their website and my specialist’s information is still listed on their site as a practicing doctor. I did talk to my doctor later that same day and she provided me a bit more information, but the center itself has conducted no patient outreach to let me know what is going on. Further, the center is small and my doctor was the only high-risk breast cancer specialist at the center, so I don’t know who would become my doctor if I were to stay at the center as a patient, as the other two doctors typically deal with women after their diagnosis, as opposed to working with prevention patients.

After this disappointing lack of information, I had already planned on switching to a new breast cancer center, as I didn’t find this acceptable.

But that’s not the end of the story.

Last week, I had a breast MRI. After the MRI, I received a voicemail from someone at the center saying something to the effect of, “Your MRI results came back as benign! We will follow up with you at your next visit. I believe you are due to come back in later at the end of this year.”

This voicemail confused me. I was excited that my MRI results were benign, but I had just talked to the office a week prior about whether or not I should be getting an ultrasound after my inconclusive mammogram results, at which point I was told I should get a follow-up ultrasound. Since the MRI results came back as benign and the person that left the message didn’t mention anything about still needing to get an ultrasound, did I not need the ultrasound? Was the person just not tuned into the fact I was told to get a follow-up ultrasound and telling me all was well prematurely? The voicemail left me with a lot of questions.

So I called the office again and asked for clarification if I still needed to get my bilateral ultrasound. After being put on hold, I was put on the phone with someone who demanded to know why I was asking if I could skip getting a test that they recommended that I get. Um… that’s a huge mis-characterization of the situation. I explained what was going on and this person gave me more information about what mammograms see vs what MRIs see vs what ultrasounds see. Turns out, just because my MRI results were benign didn’t mean that the ultrasound results would come back benign. I could still get the ultrasound and the results could still be inconclusive, possibly leading to a breast biopsy for additional clarification.

All of this came as a bit of a shock to me after the super cheerful “You’re good, see you at the end of the year!” voicemail I had received.

Long story short, I am for sure switching to a new breast cancer center. I am really lucky; since I live in a metropolitan area, I have quite a few breast cancer centers within a convenient distance. I’ve already chatted on the phone with someone from the center I plan on switching to; they recommended I wait until my ultrasound (and possible biopsy) are completed before scheduling an appointment. That being said, I’m really disappointed and severely irritated at the service I’ve been getting from my current center. I have been a patient there for six years and never had any problems, but in the past month, it’s just been miscommunication after miscommunication. I find this ridiculous as a person who is only going for preventative purposes; I can’t imagine dealing with this type of communication as a diagnosed breast cancer patient.

In the News: Jan/Feb 2020

Here is a compilation of interesting breast cancer news I recently heard about.

• I listen to a podcast called The WellBe podcast and they provide regular updates on health-related news. One of the topics of their February 4th podcast is this study, which talks about the relationship between use of hair dye and chemical straighteners and breast cancer risk. I’m not a doctor, so I’m not going to try to summarize it; you can read it yourself if you desire.
• The study in the above link is related to The Sister Study, which is apparently a research effort that collects data from sisters when one of the sisters has been diagnosed with breast cancer. Neat!
• Women in Australia are waiting up to 12 months to be able to take BRCA genetic testing. 12 months! This includes women already diagnosed with breast cancer who planned to use the results to guide their treatment plans. The Australian government says that it prioritizes who takes the test when, so high priority patients have been able to take the test within 2 weeks of a request, in some cases.
• A very scientific article on using BRCA stem characteristics to maybe one day be able to find therapeutic targets for BRCA stem cells. This research was done by J. Pei, Y. Wang, and Y. Li and was published in the Journal of Translation Medicine.
• One woman was motivated by her personal life experiences, and a company that allows their employees to spend company resources on innovative new ideas, to create a screening technique that uses body heat to detect cancerous cells in the chest.
• ASCO releases their new recommendations for treatment and management of breast cancer among men.
• The FDA has approved a new drug for use among a segment of HER2-positive breast cancer patients.

MRI Results

I got my MRI results back today from my doctor and everything is fine! Good news!

I’m not sure if this means I don’t need to go in for the ultrasound or what; I’ll have to wait until next week to talk to my doctors office to find out.