Implementing Genetic Testing Into Clinical Practice - Mary-Ellen Taplin

November 15, 2019

Mary-Ellen Taplin, Professor of Medicine Harvard Medical School and a GU Medical Oncologist at the Dana-Farber Cancer Institute, joins Alicia Morgans at the 26th Annual Prostate Cancer Foundation Scientific Retreat (PCF 2019) to speak about germline testing. They discuss what is required in implementing genetic testing into clinical practice and ways of disseminating the data to perform germline testing across the field of medical oncologists and urologists in the community.

Dr. Taplin highlights the ongoing (ProGen) trial, a randomized controlled trial that aims to evaluate the impact of pre-test video education and post-test genetic counseling as compared to in-person pre-test genetic counseling in males with advanced prostate cancer. This trial measures the prevalence of germline mutations in males with prostate cancer and has already randomized 600 men during the first eighteen months.


Mary-Ellen Taplin, MD, Chair, Executive Committee for Clinical Research Director of Clinical Research, Lank Center for Genitourinary Oncology Institute Physician, Dana-Farber Cancer Institute Professor of Medicine, Harvard Medical School

Alicia Morgans, MD, MPH Associate Professor of Medicine in the Division of Hematology/Oncology at the Northwestern University Feinberg School of Medicine in Chicago, Illinois.

Read the Full Video Transcript

Alicia Morgans: Hi, I'm so excited to have here with me today a friend and colleague, Dr. Mary-Ellen Taplin, who is a Professor of Medicine at Harvard Medical School and a GU Medical Oncologist at the Dana-Farber Cancer Institute. Thanks so much for joining me today.

Mary-Ellen Taplin: You're welcome Alicia. Pleasure to be here.

Alicia Morgans: Wonderful. So I think we've been talking a lot about this as a community about germline genetic testing as well as sematic testing certainly, but germline testing in particular in men with metastatic prostate cancer or high risk localized disease when people have a family history. You and the folks at the Farber have actually been working really collaboratively in a very creative way to think about how to implement this testing in our practices, which is, I would say, one of the hardest things for us to do in terms of following the guidelines and recommendations in this area.

So I'd love to hear how you're not only doing this for your practice, but actually studying it in a way that can help us understand implementation and potentially do this. Disseminate that data to do germline genetic testing across the field of medical oncologists and urologists in the community. So what are you up to?

Mary-Ellen Taplin: Well, three years ago publications came out that about 10% of men with advanced prostate cancer, let's just say castration-resistant prostate cancer, had germline abnormalities and cancer-predisposing genes. The ones commonly known are the BRCA genes and in fact in prostate cancer, it was BRCA2 that was the most common, although other ones as well:Ā ATM, BRCA1, CHEK and so forth. So, I took pause in my clinic thinking all these decades I've been practicing we have not been sending men for genetic counseling. And in fact, when I looked back over my records, the family history I would take was, is there any prostate cancer in your family and I would stop there.

So I felt challenged. Understanding the importance of knowing you have a cancer-predisposing gene in your family but with the prostate cancer population, how are we going to do that? As medical oncologists, as urologists, as primary care doctors, we have a very deep bench in genetic counseling at Dana-Farber, but even with 20 genetic counselors and six genetic counseling assistants, which most people in the field haven't even heard of, we weren't going to be able to keep up with all the new referrals from not only prostate cancer but pancreatic cancer patients now need to be screened and others.

So I got together with one of my geneticist colleagues and we decided we would make a video. So we made an eight-minute video that explains to a prostate cancer patient and their family what it is we're talking about. Cancer-predisposing genes, testing, why it's important to the cancer patients, and we actually wrote a randomized clinical trial where patients are assigned in a three to one fashion to watching the video, deciding if they want testing, having a blood test for the genetic testing done or what was always standard of care genetic counseling at the Dana-Farber, which was meet with a counselor, sometimes those visits could take up to an hour, have the blood drawn and so forth. The trial was amazingly popular and successful. We randomized 600 men.

Alicia Morgans: Wow.

Mary-Ellen Taplin: In about a year and a half.

Alicia Morgans: Wow.

Mary-Ellen Taplin: 98% actually in both cohorts sought to be tested and 14% had significant, what's deemed to be clinically significant, germline mutations and cancer-predisposing genes. We define Lynch syndrome families that didn't know they had it.

Alicia Morgans: Wow.

Mary-Ellen Taplin: There's one notable example where one of my patients was involved in this ProGen trial and between the time I referred him to the trial and when he came back to see me about three months later for his next LupronĀ® shot, his wife and his daughter was with him. He had been found positive. The daughter was tested, was positive, and she had already had bilateral mastectomies.

Alicia Morgans: My goodness.

Mary-Ellen Taplin: Yeah. In a prostate cancer clinic. So I feel like this trial was a good vehicle to organize us as practitioners to get the patients referred, to help the genetic program, the genetic counseling program figure out a more efficient way to serve more patients. And what's amazing at Dana-Farber is through this experience is this is the way we're going to see the majority of patients. Other videos have been made that pertain to pancreatic cancer, ovarian cancer, and we're going to be able to screen and test four times or more the number of patients we would have been able to do with the staff that we had.

Alicia Morgans: I think what's so impressive to me is that you got testing performed in 600 men in a year and a half, which I think in itself, this is only prostate cancer patients. So when you think about the entire Dana-Farber Cancer Institute and all of the counseling that has to happen, it really epitomizes the issue that we have across the country, which is that we just do not have the staff to do this work. So this type of implementation project is so critically important for us as we try to take the data that we have from studies and trials and even benchtop, and we try to put it into our clinics. It's not always just that people don't accept the data. It actually can sometimes be that we don't have the manpower to enact or act on the data that we have.

So I love that you're doing this and I also love that, and you're emphasizing in your findings, that it's not just prostate cancer that we're affecting. That we are affecting screening for breast cancer, for ovarian cancer, for pancreatic cancer and that these types of systems are actually going to need to be unfurled probably for other disease states in cancer. So very exciting and congratulations on doing this and we expect, I think you said to potentially see a manuscript on this so that we can circulate it even more broadly at some point in the near future.

Mary-Ellen Taplin: Yeah, we're putting one together now and there's two other programs that are similar with some differences. Dr. Heather Chang has a program looking at access and testing in the Seattle area and Dr. Veda Giri at Thomas Jefferson has another program where patients do testing by saliva testing and a lot of the counseling is done over the phone. So other efficient ways to be able to do genetic testing and counseling more broadly.

Alicia Morgans: Wonderful. And we did just come together at the Philadelphia Germline Consensus Conference led by Dr. Giri, Dr. Gomella, Dr. Knudsen at Jefferson, where we really, again, tried to put all the data together, come up with some consensus around things and move the needle further on this.

Mary-Ellen Taplin: Yeah, I think that consensus meeting is really important because it's so multidisciplinary, including urologists, medical oncologists, radiation oncologists, genetic counselors, geneticists, patients and advocates, and when you have to impart such important clinical information that can make a difference in saving lives with testing and cascade testing, we're going to need to really come together as a community in prostate cancer and work together to go from where we are now. Which is much farther than we were three years ago when all of this really started in prostate cancer with Dr. Pritchard's publication in the New England Journal looking at the incidents and where we need to go.

Alicia Morgans: Absolutely. Well, I appreciate your scientific efforts and I appreciate your time today. So thank you so much.

Mary-Ellen Taplin: Yeah, my pleasure. Thanks for having me.