The Ethics of Delivering Precision Medicine — Hala Borno
April 20, 2020
Hala Borno, MD Medical Oncologist and Assistant Professor of Medicine, University of California San Francisco
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.
WATCH: Which Men Need Genetic Counseling and/or Testing? Presentation - Ros Eeles
READ: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer (full text article accessible at NEJM)
WATCH: Genetic Counseling in Prostate Cancer - Brittany Szymaniak
Alicia Morgans: Hi, this is Alicia Morgans, GU medical oncologist and Associate Professor of Medicine at Northwestern University. I am so excited to have here with me today, Dr. Hala Borno, who is one of the faculty members at the University of California, San Francisco, who is here to talk with us about the ethics of delivering precision medicine and a paper that she recently wrote regarding pretest counseling and somatic genomic testing for JAMA Oncology. Thank you so much for being here today, Dr. Borno.
Hala Borno: Thanks for having me, Alicia.
Alicia Morgans: Well, I really appreciated this opinion piece that you've written with a couple of colleagues that you have worked with, Dr. Rider and Dr. Gunn and I'm wondering if you're able to just walk us through this piece. Why, first of all, was this such an important position paper to put out there?
Hala Borno: Absolutely. So I was really interested in thinking through the way that we perform pretest counseling in the medical oncology context for tumor genomic testing. I think there's been a vast literature thinking about pretest counseling for hereditary cancer risk or germline testing, but thinking through the ways in which medical oncologists talk about tumor genomic testing is something that hasn't been studied to the same extent.
But I was concerned about that because we know that when we try to understand the biology of a tumor and do genomic testing, we can actually unearth germline risk and germline genetic outcomes. And I thought that if there was inadequate pretest counseling for somatic tumor testing, then we may be giving patients information that they are not prepared to receive.
So that was really the context and the background for the paper. My colleagues Jennifer Rider and Christine Gunn at Boston University have a lot of experience thinking through communication between medical oncologists and patients and decision aids and that is what inspired the work.
Alicia Morgans: So when you think about doing this testing for patients and we do it actually pretty routinely in prostate cancer, what are the steps that you typically go through in terms of pretest counseling to avoid some of the mistakes that you raise, or the issues you raise in this paper?
Hala Borno: So when I talk about tumor and genomic testing with patients, I really first describe the fact that when we want to treat your cancer, we really need to understand the biology of the cancer and that biology can share properties with you as a whole person, but may have its own individual properties. And when we try to look at that DNA, we may get context for everything going on in your system, but we may get a specific context regarding the tumor itself that can be leveraged in order to deliver targeted therapies. And so that's the way that I position my conversation.
And you know, it is also associated with the way that I talk about germline testing. So when I talk about germline testing with patients, I always tell them that there are three implications of the outcome of germline testing. One implication is that if we find a gene that increased your risk of having a tumor, well that gene may increase your risk of developing other types of tumors and so you would be placed on appropriate surveillance.
The second implication is that having a gene that you inherited from your parents may also be a risk that your direct living relatives have that gene. And so that could trigger necessary cascade testing.
And the third, which is the reason that a lot of oncologists are doing genetic testing is that identifying genes may have therapeutic implications. And so that third piece is also connected through the pretest counseling for the tumor genetic testing. We're really trying to characterize the genetic makeup of the tumor in order to identify potential therapies that we could deploy, which is exactly what precision medicine is all about.
Alicia Morgans: So as you think about deploying precision medicine and ensuring that patients really benefit from all of the aspects of testing that can help them, are there specific limitations that you think about in your clinical practice? Or if you think about other clinical practices that are trying to deploy this testing, what are those limitations and how do you envision overcoming those issues? Not just at UCSF because I think a lot of this has really been worked out beautifully in your system. But what are ways that clinicians elsewhere, patients elsewhere can try to overcome some of these barriers?
Hala Borno: That's a great question. So I think there are different types of limitations that are context-specific. So for one, a medical oncologist may not have time to pour into all the details that would really be necessary for a comprehensive pretest counseling around somatic tumor, genetic testing. And so if you are unable to do a comprehensive pretest counseling, then patients may end up having outcomes or learning something about themselves that they weren't prepared to learn. So that's certainly a limitation. And I think there's a role of thinking through ways to deploy pretest counseling more comprehensively, whether it be digital tools or different types of aids that take away the need for pretest counseling to be performed just by the oncologists themselves.
The other piece that I think is an important challenge to recognize is that knowledge around how to evaluate genetic findings is not uniform among all clinicians. Precision medicine is very much a novel type of approach to cancer care. And I think we have to recognize our own limitations in interpreting the findings that we may collect. And if there's a lack of uniformity and understanding what we learn, we may not necessarily ensure that our patients are getting the best therapy based on those findings.
And so how can we address that? Well, I think there are certainly resources to help improve knowledge and an education around genetic findings and there are certainly tools and testing platforms that try to build in an education component to make sure providers understand the implications of the findings. I think all of those things are helpful together to help address some of the challenges that may arise with inadequate knowledge.
Alicia Morgans: Are there tools or simple places where folks and clinicians can go to try to get some knowledge if they need it in their clinical practice or for their own situations that you would recommend?
Hala Borno: Yeah, no it's a great question. So in our article we do describe some of the resources for patients and resources for clinicians that I think are really helpful around genetic counseling. Now regarding learning genetics, I think there is not necessarily one single go-to tool. I think most clinicians are comfortable with doing literature searches on the genes that they identify and by extension figuring out the mechanism of gene and potential targeted therapeutics.
The other thing, of course, is also to think through what genes are serving as eligibility criteria for potential clinical research and going through their own portfolio and the national portfolio of trials that may require that gene for eligibility. And that can be a helpful guide as to the mechanism of action and the potential role for therapeutics.
Alicia Morgans: Great. Well as we wrap up, do you have any final thoughts for patients or clinicians as they're trying to think through genetic testing, the importance of pretest counseling so that they know what to expect or so that patients know what to expect? What are your closing thoughts?
Hala Borno: I think precision medicine is certainly a beacon of hope for patients. It is by and large the direction that oncologic care is moving and by precision medicine, a heavy role of genetics in guiding subsequent therapy. But I do worry that if we have differential knowledge of genetic information and differential approaches to pretest counseling, we can certainly contribute to disparities in who benefit from precision medicine. So I think that is certainly something to think through and hopefully an area where there'll be continued research in order to ensure that everyone has access to these tools.
Alicia Morgans: I completely agree and I look forward to seeing your work on this topic because I know that is an area where you've done a lot already and continue to have a strong interest and a strong research presence. Thank you so much for your time and for sharing this beautiful opinion piece with us today.
Hala Borno: Thank you for having me.