In recent years, more and more genetic tests and therapies have become available for patients, physicians and the interested individual. But how does one know which tests to take or are appropriate for one’s condition? And what do we do after we have the test results on our hands? Can our physician help us?
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This March, the Genomic Medicine Institute was launched at El Camino Hospital in Monterey, California in response to the emerging opportunities and challenges that the genomic era has introduced. El Camino partnered with DNA Direct to become the first community hospital to integrate genomic medical services into its routine healthcare and provide El Camino physicians and their patients with access to leading edge genomic-based technologies.
I had the pleasure of talking with ECH Vice President and GMI sponsor Jon Friedenberg about this partnership with DNA Direct. In gist, GMI will provide El Camino physicians with the clinical support that they need to make decisions about which of these technologies to incorporate into their practice and which not to. Just as importantly, the institute will provide, their patients, through DNA Direct, with access to state-of-the-art genetic counseling so that they can make informed decisions.
Grace: DNA Direct is not a genetic testing company. Where will patients have their tests done?
Jon Friedenberg: Neither the Genomic Medicine Institute nor DNA Direct are going to provide the testing. That’s done by a third party. What we’re doing is providing clinical support tools for physicians and patients so that they can decide which of these genomic-based tests and therapies are the most appropriate for them. We also give them information on where and how to access the tests. For example, for patients, we provide pre and posttest counseling. As I say, if they would like information, or need information, okay, gee I’ve decided to have this test, how do I do that, where do I go, we would provide them with all of that support that they need so that they can access those tests as they wish. We work with both the physician and the patient to help them interpret the results and formulate a course of action to follow based on all the information, including the results from the test.
Read the complete interview after the cut.
Grace: There are thousands of genetic tests available now. How many tests are currently available to your physicians?
Jon: As you suggested, there are about 2,000 genetic tests that are currently available. Most of them are not tests that would be considered appropriate for patients and doctors in a community hospital setting. So, we are focusing on those that have the clearest clinical benefit to our patients and that’s really our focus. We started on the 26th with just nine and each quarter we’re going to add more so that so that by the end of the calendar year, we anticipate having approximately 50 tests that are supported by our clinical support and genetic counseling program. .
Grace: Can you give me an example of tests that are at least available at this point?
Jon: Sure. The BRCA1 and BRCA2 testing for breast cancer patients is one, the Oncotype DX test is another. The tests are not all cancer related. They cross multiple subspecialties and of course, as we add more and more tests, that will become even more true.
Grace: So physicians have the opportunity to recommend tests to their patients, but patients also can come to their doctor about a certain information or test that they heard about somewhere?
Jon: Right. Well, what we’re hoping is that our support service will help to inform both patients and physicians and will facilitate greater communication between the patient and the physician regarding these genetic tests. It’s true that there are a lot of patients out there that will read something online, or in the paper or see in on television and they’ll say, “Gee, I want that.” I think that for most genetic tests, if not all genetic tests, but certainly most genetic tests, it’s wise to make sure that you have, as a patient, considered everything that you ought to consider before ordering these genetic tests. By providing access to state of the art genetic counseling and the support to your physician, we’re hoping that will facilitate communication between physician and patient.
I will say that I know that there are sometimes patients who access these tests directly without consulting with their physician. They get their results, they go to their physician and say, “Okay, now what do I do?” We’ll provide support to our physicians and their patients when they’re in that situation, as well, but what we’re hoping to do is avoid that situation by providing the patients with access to the genetic counseling before they decide to take a test. As the question correctly suggests, there are many tests that not every patient is a good candidate for. There is pretest counseling that can help people to determine whether or not this is something they really should do.
Grace: Knowing one’s risk for anything is just part of the equation, at least that’s my opinion. It’s really managing it and having someone guide you into what to do next. That’s basically what this would be more about, not just the genetic testing.
Jon: Right. We’re not cheerleaders. We’re not jumping around telling everybody they should get genetic tests. What we’re recognizing is that genetic testing and genomic-based therapies are here and they’re here to stay. In many cases, they can be extremely powerful and important tools for physicians and patients. Powerful tools that can improve patient outcomes. What we want to do is facilitate the responsible adoption of those tests and those therapies that are appropriate for our physicians and our patients. We’re a nonprofit organization and we are providing this counseling to our community separate and apart from the revenue model that exists for the testing services themselves. We don’t get a piece of the action. We don’t get a kickback and I say that just to make clear that the counseling service and the testing entities are completely separate.
Grace: Okay, that’s really good to know. Are there going to be genetic counselors in the consultations?
Jon: We have, through our relationship with DNA Direct, genetic counselors who will be available to provide, and these are all board certified genetic counselors, they will provide direct and specific genetic counseling to the patients of our physicians.
Grace: Would the support extend to the patient’s family or other relatives who may have the same risk factors or be affected with the same condition as the patient?
Jon: Yes there is. That’s built into the equation. As with inherited diseases, there is a need to at least consider communicating your test results or your pretest decision process to family members. There is support within the Genomic Medicine Institute for reaching out to family members and also providing family members with genetic counseling, as well.
Grace: What’s your initial response from your physicians and their patients?
Jon: The response has been very, very positive. We only just did launch it on March 26, so we’ve had some patient response, but I think it’s very, very early in the process. The physicians we’ve been talking to for a while about this and there’s very significant positive response and they feel that this will enable them to bring this technology to their practice and to their patients sooner than they otherwise could. They’re excited about that opportunity.
Grace: Will this be open to physicians in the greater Silicon Valley area do you have to be a physician or patient in your hospital?
Jon: No. This is a service we’re providing to our physicians and their patients. If there are people who are not a patient of one of our physicians, and they want to access the service, then they can become a patient of one of our physicians and access the service that way. It’s not practical for us to provide this kind of service to the entire universe, as much as there might be a need for someone to provide this service to the universe. We are limiting it to our physicians and their patients.
Grace: Well, I think more hospitals need to have this in place too.
Jon: Well, they say that imitation is the sincerest form of flattery. If other hospitals step up and do something comparable, then we’ll consider ourselves flattered and that would be great. We’re doing it because we think it’s the right thing to do for our patients. We’re excited about it.
Grace: I’m excited about this too, thank you very much, Jon. It’s been a pleasure talking with you.
Jon: Great.
Preimplantation genetic diagnosis (PGD) is performed after in-vitro fertilization where an embryo is tested for mutations that can lead to genetic defects, before being implanted into the uterus. Obviously, PGD reduces the need for prenatal genetic testing in the middle of a pregnancy, and avoid having to choose between terminating or continuing on with the pregnancy. 
