I was on the phone one day last winter with Amy Byer Shainman, my BRCA #BFF, and we were talking about starting #Lschat (Lynch syndrome Chat) on Twitter. Lynch syndrome was in dire need of a strong media presence on Twitter and so that is when I decided to begin #Lschat (Lynch syndrome chat). Amy and I had participated on various other Twitter chats and wanted to mix things up a bit by bringing an expert onboard; I wanted to be sure we were providing our audience with the correct information and to give them the opportunity to ask experts from the fields of our topics any questions they may have.
If you’re interested in genetics and the politics behind them, then chances are you know the name Ellen Matloff — a.k.a. genetic counselor extraordinaire. I tend to think rather big — and so I asked Amy: “How about we call Ellen Matloff and see if she’s interested in working with us?” Amy thought I was nuts, we called her, and then Ellen jumped on our #Lschat train. After a few successful #Lschat’s, we decided to focus on various hereditary cancer syndromes — not just Lynch syndrome — because of the many parallels between them. Whilst I am an advocate for those with Lynch syndrome and Amy is one for those with BRCA, we’ve decided that all hereditary cancers warrant the same attention. #Lschat evolved into #Hcchat — our chats always include Ellen and usually an expert on the topic being discussed. To date, our last #Hcchat has made over 70 million impressions on Twitter.
And so, it is with great pleasure I bring you the interview I recently had with Ellen Matloff…
G: Ellen, you’re well known in the genetics and hereditary cancer worlds because you were an outspoken plaintiff in the BRCA patent case that went to the Supreme Court.
E: Well, thank you. I saw the negative impact of the patents on patients, clinical care and research and I’m passionate about the topic. I’m also good at ‘outspoken’.
G: Yes! We love that you speak the truth and that you stand up for patients!
But other than being a plaintiff and a cancer genetic counselor who has published a lot in hereditary cancer, we don’t know much about what you’ve been up to since leaving Yale and clinical practice. But let’s start with some history. How did you end up in genetic counseling?
E: I learned of genetic counseling during my sophomore year at Union College when a local genetic counselor gave a lecture to my Genetics class. The combination of science and psychology fascinated me. I did a genetics internship at Albany Medical School and I was hooked!
G: What made you go into cancer genetics, specifically?
E: My first job was actually in general and pediatric genetics at SUNY Health Science Center in Syracuse, NY. I did a lot of work with Cystic Fibrosis families and I’m still in touch with many of them. I learned a great deal about general genetics. But the field of cancer genetics was beginning to crack open and I saw an opportunity. The then Director of Yale Cancer Center, Vince DeVita, recruited me to start their program, so I packed my things and moved to Connecticut.
G: Was Yale eager to have you start a Cancer Genetics Program?
E: Hmm, not so much. There were a few visionaries, like Dr. DeVita, who knew this was the wave of the future, and they supported the movement. But I was surprised at the reluctance of many clinicians and patients to launch genetic testing. Remember, it was 1995 and many saw the whole thing as ‘fortune telling’ and ‘Pandora’s Box’. I gave a lecture to a group of research clinicians when I arrived and mentioned the option of prophylactic surgery for people who carry mutations. A research nurse yelled out in the middle of my lecture that I was ‘suggesting the mutilation of their patients’. I was shocked. Not only were there data to support this option, but also patients were having such surgeries based on family histories alone! Over time colleagues began to trust me and to trust genetic testing, and over 18 years we built one of the best programs in the country.
G: So 18 years later you were the Director of one of the most successful and visible Cancer Genetic Counseling Programs in the world. What made you leave?
E: To be honest with you, I never thought I’d leave. I was so invested in our patients, the clinicians I worked with, and my staff — I would have bet you a million dollars that I’d be sitting in that chair for the next 25 years. But the climate changed and I started exploring Plan B. It was then that I saw the opportunity of My Gene Counsel laying ahead.
G: What was the opportunity?
E: Much of my research had focused on adverse events in genetic testing. Meaning, what happens when people misinterpret genetic test results? We collected cases from all over the country of patients whose test results were misinterpreted and they’d had prophylactic surgeries they didn’t need, or had been diagnosed with late-stage cancers because they’d been falsely advised that their results were normal.
G: What? How terrible!
E: Yes. And what is even more terrible, the frequency of these errors is increasing because genetic testing is becoming more complex, is being ordered more often, and the overburdened clinicians ordering that testing have little knowledge of genetics. Add to that President Obama’s Precision Medicine initiative and the huge drive toward genetic testing in almost every area of medicine and you can see the two train tracks crossing.
G: That sounds like a train wreck, not an opportunity!
E: But it is an opportunity – an opportunity to prevent the train wreck! And that is what I saw very clearly. We need a digital health tool to accompany genetic test results to ensure that clinicians and patients interpret results accurately. That is what we’ve built at My Gene Counsel (mGC).
G: Wow. That is quite an undertaking. Will the mGC tool replace genetic counseling?
E: I’m so glad you asked that question … absolutely not. The mGC tool will help guide patients who’ve had genetic testing to certified genetic professionals. But it does a lot more than that. It will help clinicians and consumers effectively utilize genetic test results and stay up-to-date.
G: How have you built the mGC tool?
E: We’ve built it using lessons learned from many years of clinical experience in the field, and with the help of active clinicians who are entrenched in this work. We’ve also had consumers on board since day one, and are building a tool around their needs.
G: A lot of companies, studies and initiatives give lip service to involving patients and Consumer Advocates, but few do it in a genuine and meaningful way. Why did you decide to involve us?
E: Honestly? Because over the past 20 years I’ve learned the most important lessons from my patients. My patients gave me cues about the problems in the field, what they needed, and the direction in which the field was moving — I just needed to listen. Consumer Genomics has never been stronger and any viable genomics product must involve consumers, and revolve around consumers.
G: Amy Byer Shainman and I approached you months ago about partnering with us to create #Lschat (Lynch syndrome Chat) which is now #Hcchat (Hereditary Cancer Chat) on Twitter. Not many CEOs of a burgeoning start-up would have taken the time to partner with two Patient Advocates. Why did you?
E: I would have been crazy not to. You and Amy are two of the most active advocates for Lynch syndrome and BRCA, respectively. It was a great opportunity for me, and for My Gene Counsel, to become more embedded in the consumer communities and to really learn what you want, what you need, how you think. We’ve used that information to build and shape the mGC portal. I also love working with you and Amy, and the hereditary cancer community.
G: How do you see the My Gene Counsel tool playing out as genetic testing evolves, and as precision medicine evolves?
E: I think that as this launches and becomes integrated, we’ll look back and wonder how we ever managed genetic testing without the mGC tool. Our nation and our health care system are investing so many resources into genetic testing and precision medicine — we can’t afford to have the critical information we gain from genetic testing to be misinterpreted.
G: This is exciting stuff!
E: Yes, we think so. We seem to be in the right place at the right time: genetics, precision medicine, digital health, and consumer genomics are all ripening at the same time. My Gene Counsel is at the crossroads of all four — we are very fortunate.
G: Ellen, thank you for your time, for working on #Hcchat with us, and for being on Ihavelynchsyndrome.com’s Board of Directors. The pleasure is most certainly all mine!
E: You are most welcome!
If you’re interested in Ellen Matloff’s work, please visit: http://www.mygenecounsel.com
On Twitter: https://twitter.com/MyGeneCounsel
And to follow #Hcchat (Hereditary Cancer Chat): https://twitter.com/hc_chat