Healthy Habits: Cascade Testing

 There are many genetic traits Melissa Hodgson is thrilled to share with her mom, June and her sister, Shannon - just look at their family photo. 

But there is one trait the sisters and mother share that you cannot see - they all carry the inherited BRCA mutation - increasing their risk for developing breast cancer as well as ovarian cancer. The family had absolutely no idea how high risk they were until Melissa felt an unusual pain while jumping rope. 

Now, the whole family has undergone what’s called “Cascade Testing” and is taking preventative measures to protect themselves. 

I had a chance to do several interviews to learn more.

Melissa  Hodgson/Patient 

What factors weighed into your decisions for testing and subsequent procedures?

My first thought was my health and being strong and healthy for my daughter and family.  When the doctor mentioned testing, I was 100% game for anything he needed me to do.  At that point I decided right away to NOT google anything and be positive and put my trust in my doctors.  I know what damage that can do to anyone and the stress that I would have to face in the coming days.  I wanted to do everything I could to tackle this head on and not look back.  I was scared but strong.  Not knowing that in total I would have 6 procedures over a 8 months span I did rely on my family when I doubted myself or the unknown but I knew I had to be strong for my daughter, knowing someday she might have to go through the same thing.

 

What was it like to have family members also going through similar testing and decisions?
I knew either my mom or dad would have it and wasn’t sure about my siblings.  My Aunt and her two daughters also tested when everyone in my family did as well.  I didn’t know what to think b/c no one in our family had breast cancer or that we knew of.  I was worried for everyone, and we were walking on eggshells until we got the results.  Unfortunately, my mother and sister both tested positive and my daughter (who is 13) will test when she becomes and adult.  

 

What advice would you have to other women?

Listen to your body is the first thing.  I was jump roping and got a pain in my breast, thought it was nothing and blew it off for 3 weeks and it wouldn’t go away.  I called my Gyno and made an apt, that appointment showed nothing.  He wrote a script for a mammogram and that turned into we found something.  Which turned into a biopsy.  So I’ve told every women I know LISTEN to your body.  Don’t be afraid to get tested, don’t be afraid to get your mammograms yearly.  I’m shocked at how many of my friends reached out to me saying I haven’t gotten mine in 2 years, 3 years etc.  I urge all women to empower themselves to confide in each other and take the support of your friends. Fear of the test, fear of the what ifs, fear of not being strong enough.  I want to help as many women as possible.

 

Dr. Ami P. Vaidya, MD, Co-Chief, Division of Gynecologic Oncology & Vice Chair, Department of Obstetrics & Gynecology, Hackensack Meridian Health

 

-Why isn't it standard for all women to be tested for the BRCA gene?

 

Although we have made huge advances in the technology used for genetic testing, there is still much we do not know. There are variants of unknown significance for which we don’t have well established guidelines. Testing is a balance between the incidence of a true pathogenic mutation in a given population and our ability to impact a patient’s care. The current incidence of BRCA in the general population is low enough that widespread testing has not been recommended. In contrast, the incidence of BRCA mutations in the Ashkenazi Jewish population is much higher (1 in 40 carry the mutation), making more generalized testing of this group recommended. 

 

-How often does cascade testing turn up other family members that may want to explore further medical options?

 

If a person is found to carry a dominant mutation, such as BRCA1/2, then first degree relatives will have a 50% chance of also carrying that same mutation. 

 

-What do patients need to consider as they're exploring testing and prevention options?

Learning one’s family history can be very helpful in guiding testing. Patients should talk to their internists, gynecologists, and family practitioners about testing options. Professionals such as genetic counselors can be utilized as well. 

In some cases prevention can include behavior modification, medications, heightened screening and even surgical risk reduction. 

You can learn more about their story here.