A conversation with Dr Ed Esplin, clinical geneticist
Dr Ed Esplin is a clinical geneticist with Invitae, a genetics testing company. It is, in fact, the company that did my genetics test, so as part of my research into ovarian cancer and genetics for the podcast, I talked to Dr Esplin about how widespread testing is for this cancer. What follows is an edited transcript of our conversation.
Golda Arthur
How widespread should genetic testing be? Because it seems to me it is a very powerful tool one way or the other.
Dr Ed Esplin
Well, that's a great question. And to which there are a lot of different answers, I think, to various aspects of that question. And so I'll start by saying, within the realm of patients with cancer, all patients who have ovarian cancer, breast cancer, pancreatic cancer, colorectal cancer, should be receiving germline genetic testing. It is the established standard of care, per clinical practice guidelines. Evidence has shown in various clinical studies and clinical trials that actually genetic testing is needed by every patient who has cancer of any kind. Because that testing is important, not only to better understand what the cause of a patient's cancer is, but it is key for getting those cancer patients the most effective treatment for their cancer, including the possibility of enrollment in clinical trials where appropriate. That information can be used to prevent future cancer for that individual once they successfully battle that cancer into remission. And as you have aptly noted and know yourself, it's key for the ability of their family members who are identified as being at genetic risk, to also be able to take action to prevent cancer themselves and to mitigate the risks that might be present. That's within the cancer in the cancer realm itself. And I think that while the guidelines that I've just noted that recommend testing for everyone with ovarian, everyone with breast, everyone with pancreatic cancer, and literally everyone's cancer, how systematically that is happening is, is another question entirely. Unfortunately, there is evidence that less than 40% of all of the cancer patients who already qualify, according to the clinical practice guidelines for genetic testing, are actually getting it, which is a travesty, in my personal opinion. I mean, take, for example, ovarian cancer. The last statistic I saw is somewhere on the order of 30 plus percent of all patients who have been diagnosed with ovarian cancer are getting testing and really, this testing should happen at the time of their diagnosis, so that it can be used to inform every aspect of their care. Now that's unfortunate, because the guidelines supporting and recommending genetic testing for everyone with ovarian cancer have been in place for years. And it's taking far too long for that to be systematically implemented. Patients need this information. Their family members need this information. This is key to them being effectively treated and managed even once that cancer diagnosis has been battled into remission.
Golda Arthur
A natural next question to that is - what's the problem? What are some of the factors keeping that from happening, from your point of view?
Dr Ed Esplin
So one of the problems has been historically, and remains for some of these cancer types, that the guidelines have taken quite a while to get to the point that they are now where we're mentioning, for example, universal testing being recommended for ovarian breast, pancreatic, and colorectal cancer. There are other cancer types, such as prostate cancer, such as lung cancer, where the evidence is growing, and I believe the evidence is already there. Such that testing should be offered to every prostate cancer patient and testing should be considered in every lung cancer patient, as well, as well as other cancer types that fall within that realm. Now, once the guidelines catch up to that aspect, then one of the challenges becomes the health insurance companies covering that testing. And that is a challenge that clinicians face with lots of different conditions and lots of different orders and procedures and treatments that they order for the patient. And so there is the need for that evidence to not only get into the guidelines, but then for the payers to step up, modify their medical policy, and make sure that it's covered. That brings us to a next step in things that need to be fixed. We did a study in collaboration with United Healthcare and looked at all the patients who were eligible for this genetic testing under their policy for colorectal cancer, and looked at all the colorectal cancer patients over about a year's period of time. And we found how many of those individuals actually received germline genetic testing, it was less than 5% of 55,000 patients who had a diagnosis of colorectal cancer, who actually got the clinically-recommended and insurance-covered testing that was important for their treatment and for their management. And so there's there's also a tremendous need to educate clinicians, as well as patients as to the importance of germline genetic testing, at the time, they're diagnosed with cancer, so that they can derive all the benefits that that genetic information can can provide to their treatment decision-making with their clinician, as well as other management and future prevention opportunities. Not to mention this, as noted before, the opportunity for their family members to benefit from that information as well.
Golda Arthur
Can you encapsulate for me what it's going to take to do that, to systematize it?
Dr Ed Esplin
Part of what that's going to take is education of physicians and patients so that they understand how critically important genetic testing is, so that it gets done. Part of that is going to be healthcare institutions in which these physicians are practicing, putting into place workflows that make this automatic. So there are plenty of clinics for cancer patients, where, when you walk in the door of that clinic, as the first time you're being assessed as a cancer patient, let's call it an oncology clinic. Clearly, there is a standing set of orders that is done for you as a patient, right? You're gonna have basic blood tests drawn, you're gonna have basic imaging studies done, they're going to ask you basic questions, you know about yourself and about your family history. And genetic testing needs to be one of those things that is automatically performed for every person with ovarian cancer who walks in the door of an oncology clinic, it needs to be a knee jerk. Everyone needs to be doing this.
Golda Arthur
What is the next thing on the horizon for the technology for your field that you're excited about, that the rest of us don't even know about?
Dr Ed Esplin
I think there are additional opportunities that are coming down the pipe pretty quick for the treatment of cancer patients with respect to our ability to use the genetics to actually better understand how well their treatments are working. And it's something that it's currently called - the technical term is minimal residual disease detection. And it's something where individuals who have cancer and for whom we know their genetic profile, we can take blood samples, and we can understand if the treatment that they're on is working. And if it's not, they have the opportunity, of course, to stop that and to start something that will work. There is also the opportunity there to assess individuals for the presence of cancer and if the cancer is gone, that there may be the opportunity for those individuals to not endure the full course of the previously recommended treatment because we have a test that can tell us that that your cancer is literally gone. And these are things that genetics is able to do. It's pretty early now. But there's a lot of research in this area. And one last note that I'll make is that similar technology is actually coming down the pipe also for potentially being able to detect cancer and unaffected folks in such a way that we can't really do it now that also is leveraging genetic technologies to facilitate.