Genetic Testing

-

 

4th of July Family Photo

At my first oncology appointment way back in June, I was offered the option to have genetic testing done through a simple blood test. I didn’t hesitate to take the test; for me it was a no brainer. So, I found it surprising as I did additional research to discover that many breast cancer patients in the United States either don’t qualify for genetic testing or they elect not to have it done.  

Genetic testing can help identify inherited gene mutations that increase the risk of developing certain cancers. The genetic test I had analyzed over 70 mutations in genes which are commonly linked to breast and ovarian cancer. The most well-known breast cancer genes are BRCA1 and BRCA2 which stand for BReast CAncer genes 1 and 2. These genes play a role in DNA repair and prevention of tumor growth. The National Cancer Institute reports that more than 60% of women who inherit a harmful change in BRCA1 or BRACA 2 will develop breast cancer during their lifetime. By contrast, about 13% of women in the general population will develop breast cancer during their lifetime.  

According to the Susan G. Komen Foundation, in the U.S., only 5%-10% of breast cancers are related to a known inherited gene mutation. Despite knowing the chance of an inherited gene mutation was low, I was still anxious waiting for my results. 

As explained by my oncologist, there are three primary reasons genetic testing is important: 

  1. 1. Informs risk management 

Test results can help individuals make informed decisions about preventative measures such as increased screening or risk reducing surgeries (mastectomy vs. lumpectomy). 

  1. 2. Guides treatment decisions 

For those with breast cancer, genetic testing can help determine the best course of treatment. 

  1. 3. Provides information for family members 

Test results help assess the risk for other family members who may carry the gene mutation. 

Almost three weeks after having the blood draw, I had my genetic counseling appointment over the phone. Dory came home for lunch that day and I put the call on speaker so we could both listen. The counselor calling to give me my results talked a mile a minute and was VERY chipper. Her manner of speech took me by surprise when she first called to set up the appointment a few weeks earlier and I actually had to ask her to slow down and repeat herself a couple of times during that initial call.  

When she started talking this time, I glanced over at Dory and the look on her face confirmed that I wasn’t crazy in wondering if the genetic counselor had the right tone and presence for making these kinds of calls!  

Thankfully, my test did not show evidence of any mutations. After delivering the test results, the remainder of the genetic “counseling” appointment involved me responding to a long series of questions and providing a very detailed personal medical history and a comprehensive family history.  

When we hung up, Dory said, “Geeze, I didn’t know Erin Brockovich was calling!” Which gave us both a good chuckle. A survey arrived shortly thereafter asking if I’d like to provide feedback about my experience. Maybe if I had been in a better headspace I might have considered giving some constructive feedback, but at the time, it didn’t seem worth the time or effort. 

After getting my results, however, I was still curious about “eligibility” for genetic testing and why some individuals who do qualify don’t end up being tested,  

The CDC says genetic testing is recommended for the following groups of people: 

  • Individuals with a family history of breast or ovarian cancer 
  • Individuals with a personal history of breast cancer, especially if diagnosed at a young age (under 50) 
  • Individuals of Ashkenazi or Eastern European Jewish ancestry who have higher risk of specific BRCA mutations 
  • Individuals with a personal or family history of other cancers such as male breast cancer, pancreatic cancer, or high-risk prostate cancer  

While genetic testing can be a valuable tool for guiding treatment and providing insight to potential future risk for both patients and their families, several studies have shown it is underutilized, even among those who meet testing criteria.  

A 2024 study by the National Institute of Health explored reasons for the underutilization of genetic testing and found the issues of concerns to be related to things like: 

  • An inadequate number of genetic counselors 
  • Restrictive eligibility criteria for testing 
  • Cost of the test 
  • Health insurance coverage 
  • Fear of future insurance discrimination 
  • Privacy issues 
  • Gaps in both patient and provider knowledge about the impact and value of testing 

I feel grateful that these barriers were not an issue for me personally. I’ve always believed that knowledge is power so my hope is that all women who want or need genetic testing for either preventative purposes or to help guide their treatment can access the testing if they so desire.   

Comments

Post a Comment

Popular posts from this blog

“I’m sorry to tell you, but I’m 95% confident you have breast cancer.”

-
Image
“I’m sorry to tell you, but I’m 95% confident you have breast cancer.” The radiologist delivered the news during a follow-up ultrasound after an abnormal mammogram this past April. A week later the pathology lab results would confirm his suspicions. “You have breast cancer.” They are words that every woman fears hearing. And they are words that 1 in 8 women will hear in their lifetime. I was shocked. I felt blindsided. I didn’t have any symptoms--lumps or otherwise. I’ve had a mammogram every year since turning 40. Last year’s mammogram was normal. The only family history I have is a cousin who is just a few years older than me and who was diagnosed almost exactly one year before me. In the days and weeks that followed my initial diagnosis, I didn’t want to talk about it. I even regretted telling the small group of people that I did. Friends and family members were texting and calling to check-in and get updates. I genuinely appreciated their care, concern and support. But I couldn’t ...
Read more

SVT-AVNRT

-
Image
Reconnecting with my childhood friends, Drs. Jocelyn and Danny Spoon.  My breast cancer diagnosis this spring coincided with also being diagnosed with SVT-AVNRT. SVT-AVNRT is a heart arrhythmia that affects approximately 1% of the population. I’d never heard of it before and it’s certainly easier to refer to it by SVT-AVNRT than by its full name: Supraventricular Tachycardia; subtype: Atrioventricular Nodal Reentry Tachycardia. The first indication I had of potentially having an arrhythmia occurred in December 2021. In early 2022 I had follow-up tests including a Holter monitor and a cardiology consultation. The Holter monitor didn’t reveal any abnormalities, and the cardiologist wrote it off saying I just had a fast heart rate. I didn’t think much more about it until I started having symptoms again in December 2024. Soon the “episodes” as I called them were increasing in frequency and duration. I had read that heart palpitations can be a symptom of perimenopause, so I initiall...
Read more

Missed the mark

-
Image
The bruise from the biopsy looks bad...but it didn't hurt!  The surgeon I selected to do my lumpectomy has her patients undergo a breast MRI . She uses the detailed imaging of the breast tissue to as sist w ith her surgery planning. While a breast MRI is a valuable tool in certain situations, it's not a standard part of every breast cancer diagnosis. In fact, I know several women who have had breast cancer recently and who never had an MRI.    In my case, I’m especially grateful that the MRI was done. My original mammogram came back as abnormal in both breasts. As a result, I had a follow -up ultrasound and bi-lateral biopsies. The original biopsies came back positive for cancer in the right breast and negative (or benign) in the left breast. That felt like a small win at the time...at least I didn't have cancer in BOTH breasts!    On Ju ne 5 th I went in for my MRI and an ultrasound of my right axillary area to ass ess the lymph nodes and lo...
Read more