Taking Control of One's Family Health History
At CURE’s patient-focused meeting at the 36th Annual Miami Breast Cancer Conference, Shannon Pulaski and Ellen Matloff discussed the importance of genetic counseling and learning more about one’s family health history.
BY Kristie L. Kahl
PUBLISHED March 12, 2019
Individuals who think they may be at risk for or do have genetic mutations have two useful tools they can utilize in their journeys: My Gene Counsel, a digital health platform that links current, evidence-based information to genetic test results, and Proactive Genes, a resource tool to help empower the conversation with children about hereditary cancer risk.
At CURE’s patient-focused meeting, held at the 36th Annual Miami Breast Cancer Conference, Ellen Matloff president and CEO of My Gene Counsel, and Shannon Pulaski, creator of Proactive Genes and author of “Mom’s Genes” sat down for a panel discussion on family health history and genetic risk for cancer.
Shannon, can you tell us a little bit about your experience and how genetic testing/counseling was a part of your journey?
Pulaski: My journey started about seven-and-a-half years ago when my mother was diagnosed with ovarian cancer. At the time, we didn’t really understand how deep our family history was. It triggered me to start considering what my own risk was – particularly, because I had just given birth to twin girls. They were born two months early and they were in the NICU, and my mom was in the hospital on the floor directly below where I was visiting with them. It really made me dive deep into this and consider what my risk was and what their risk would be. So, I went to my appointment with my OB after I had the girls and started to have the conversation about my mom, and told her that she had a very smart gynecologic oncologist that was able to test her for the BRCA gene, and we learned that she was BRCA positive. My OB at the time and looking at me and said, “Oh boy, if you have the BRCA gene, you have a ticking time bomb.” He instilled so much fear. I was paralyzed. I couldn’t breathe, and it really took awhile for me to get out of that appointment and to think about my next steps. What she did do, was hand me the name of a genetic counselor. I am thankful for that because after I got through the paralyzing fear, I made the call and I sat down with a genetic counselor.
It changed the course of my life. He sat down and started a conversation where we really deeply explored my family history. I got a good education about what was going on in my family tree. I understood what it meant to take that family history – the age, the type of cancer – and gather good information that I could communicate later. He started to go through options and devised plans of action. It really turned the conversation from what was paralyzing fear into: “Alright, I think I can do this. I’ll be able to move forward and get a handle on this for myself and my kids.” It was a really important tool. The genetic counselor and genetic testing made all the difference, especially because I found out about my own mutation of BRCA1.
Ellen, how can My Gene Counsel help individuals at genetic risk for cancer? How can people find My Gene Counsel?
Matloff: I was a genetic counselor and I ran the cancer genetic counseling program at Yale for 18 years. It was a program that I started. A few years ago, we saw an important trend. As you remember, Angelina Jolie wrote an important letter to the New York Times, and not only was she a BRCA1 carrier, but that she had had her breasts removed preventatively. That night, we saw a 40 percent spike in referrals to our clinic. I thought it was a temporary increase, but it never actually returned to normal. So, that one celebrity sharing her story really thrust genetic testing into the limelight and I’m forever grateful to her because she made genetic testing a safer household name that people were familiar with – BRCA1 and BRCA2. We also saw that many health care providers were ordering genetic testing, even if that wasn’t their area of expertise. We’ve documented a fairly large percentage of errors and test interpretations. These were well-seasoned professionals who were either ordering the wrong tests or interpreting the test incorrectly. We also saw that if people do see a genetic counselor, they generally go once or twice, maybe three times, but then most likely never again. So, I would stand in front of the filing cabinets at Yale, thousands of thousands of cases, and whenever there was a new medical management guideline, I would think to myself, “How in the world are we going to recontact all of these people?” What I realized is that we needed a new system.
So, four-and-a-half years ago, I left to start a company called My gene Counsel. What we do, if you’ve had genetic testing – maybe you found you carry a mutation – you can come to My Gene Counsel and upload your test results. We will link your test results to streams of genetic counseling information that cover not only the scientific and the medical aspects, but also the emotional, psychological, how to talk to children about this.
This is a topic that we have been preaching for probably the last two decades at Yale that people should start normalizing genetics with their children at a young age. This shouldn’t be something that you wait until age 18, and then have a sit-down conversation. The transparency about making genetics a part of the learning process is really critical. “Mom’s Genes” has been wonderful for us to now say to people, “Here is a book that is not scary. It normalizes the discussion of genetics with your children.”
At My Gene Counsel, we talk about Shannon’s book and other resources that are available for families. Importantly, when something changes in the medical management guidelines or there is a clinical trial of interest, you get a push notification by text or email so that you know about it, and your health care provider gets the same update. So, you can see that we are keeping both the consumer and the provider up to date in genetics. This is what is really critical moving forward: that both the consumer and the health care provider have information and language that they understand so that they can act on that information and have all of it so they can make informed decisions.
Pulaski: As a woman who has a strong family history of breast and ovarian cancer, and as a previvor myself, I am a huge advocate. I am always in the space talking about seeing a genetic counselor and how valuable that tool is. But there is a shortage of these counselors and it is sometimes really difficult to get access to them. I’ve had the good fortune of coming across My Gene Counsel and it is a game-changer because it allows you to be home and have access to really good, sound information. My Gene Counsel had all of the information laid out in a format where if I had a question, the answer would be the next one there. It has sources and piles of information that were easy to understand as a patient. It really helps you go in to the doctor and be more educated and to have a voice and advocate for yourself better if you know what your options are. That is definitely a tool to add to your toolbox for sure.
Speaking of tools in the toolbox, how can we help to start the family conversation about hereditary cancer? How can Proactive Genes serve as a resource tool?
Pulaski: When I started my journey, I was 20-something and we went through the family history and it was shocking to me because I was so blissfully unaware of what was going on in my family tree. I would go in to the doctor and have a questionnaire, and it would have the list of your family history and I would kind of go through clicking no quickly without giving much thought. I didn’t get it. I didn’t get how important it is to know your family history and to learn what it means and how much of an impact it can have on your own treatment, and the important of knowing how to effectively give it to your doctor to make sure you are getting in the office and saying it over and over again until they hear you.
So, as I came in to learn all of this through our own family’s story, I found that there was a real need in the community for resources on how to have conversations with your kids about family history, about cancer, and to make it approachable and not one of fear. When I learned about whether I was going to be diagnosed as a BRCA-positive patient, I was paralyzed with fear and I never wanted that for my children. So, I started to sit down with them and open a door to the conversation and really let them guide it – what questions were they coming to me with. They saw what I was going through. They saw what Grandma was going through. I let them have a voice with me but always in an age-appropriate manner.
From that, we developed a children’s book called “Mom’s Genes” and it really is a story that I created with my children and how we had the conversation. We started talking about what genes are in a simple way just to facilitate that conversation and echoing the importance that genes can have on your health. It was done in a way that they get that concept and of going into the doctor and talking and being comfortable with their health care professionals, and having it be something that is manageable and age appropriate.
So, that is what we are doing at Proactive Genes with the book “Mom’s Genes” and we’re trying to foster a community where other parents can come and share their successes, their failures, their questions that they have as they are trying to facilitate these conversations with their own children.
What is your biggest piece of advice for others facing these hereditary risks?
Matloff: My biggest would be certainly to ask your family elders about the family history. It doesn’t need to stop with just your parents if you are lucky enough to have your grandparents alive, it is important to try to get your cancer history and figure out when people in the family were diagnosed with cancer and what those cancers were. I would recommend that you draw out a family tree and put it in your safe deposit box or wherever you store essential family documents, so it gets passed down to the next generation. If you think about your own family history, you probably know something about your parents, siblings and children, but do you know about your grandparents and their ages and causes of death? How about your great aunts and uncles, or your great grandparents? That information dies when those family members die and it doesn’t get passed down. So, I really recommend that you document it and save it for the next generation. I would also recommend that, if you are considering genetic testing, you see a certified genetic counselor. As Shannon pointed out, there are not enough genetic counselors in this country, but there are phone counseling services where you can get this important service and there is also My Gene Counsel where you can get some ongoing updated information from people who are really experts in this area.
Pulaski: My big advice or what I take away from all of this and our journey is to learn as much as you can and then control as much as you can, and then let go and breathe as much as you can. Having a high risk for cancer or going through your own cancer journey, it can be really overwhelming at times and it is important to just understand that we can develop a good strong team and get our information and get out there and use our voices to be our own health advocates. Take it one day at a time, control what you can and breathe.