Genetic Testing Should Come With Counseling: American Cancer Society CMO, Supreme Court Plaintiff Among Experts Who Warn of Consumer Risks

Evidence-Based Oncology, November/December 2013, Volume 19, Issue SP13

This fall, The American Journal of Managed Care convened a panel of leading medical professionals and genetic counselors to discuss how the exploding field of genetic testing is affecting cancer prevention, diagnosis, and treatment. Jan Berger, MD, MJ, president & CEO, Health Intelligence Partners, and editor-in-chief, The American Journal of Pharmacy Benefits, served as the moderator for a wide-ranging discussion, including issues that have arisen since June 13, 2013, when the US Supreme Court opened the door to competition in genetic testing with its Myriad decision.

Panelists included Otis Brawley, MD, chief medical officer, American Cancer Society; David H. Finley, MD, FACS, national medical officer, enterprise affordability and policy, Cigna; Joy Larsen-Haidle, MS, genetic counselor, Hubert H. Humphrey Cancer Center; Ellen T. Matloff, MS, research scientist, Department of Genetics and director, Cancer Genetic Counseling, Yale Cancer Center; and Rebecca Nagy, MS, genetic counselor and president, National Society of Genetic Counselors.

The following transcript has been edited for clarity, style, and length. To hear the full discussion, please visit http://www.ajmc.com/ajmc-tv/paneldiscussion/genetic-testing.

Jan Berger, MD, MJ: Let’s focus first on the unmet needs and challenges. What is the current uptake of genetic testing? We see increased utilization and increased availability. So are we seeing greater use? Is it in the employer market? Is it in the health plan market? Who’s leading the charge in this area? Ellen Matloff, would you get us started?

Ellen Matloff, MS: I think the other genetic counselors on this panel have been much more involved in this area than I have to date, but my group has been able to document over the years some of the mistakes that are being made in genetic testing and also in prophylactic surgery, as well as surveillance for patients who aren’t getting the genetic counselling they need by a certified provider—both before and after having testing.

Berger: Joy Larsen-Haidle, can you share what are you seeing as a genetic counsellor? Are you seeing an increased uptick in genetic testing?

Joy Larsen-Haidle, MS: Yes, I am. Since the end of June there’s been a significant increase in the number of requests for genetic counselling and genetic testing, as well as differences in the type of testing that are available. I’ve been a genetic counselor for 18 years, and it’s been a lovely experience to watch that trend where genetic counselors have become more integrated in routine medical care. We are part of that conversation when patients and physicians are developing their care plan, and I think that trend will continue. With the court decision and the media attention around BRCA testing that trend will likely continue.

Berger: Dr Brawley, how are you all at the American Cancer Society both impacted by and impacting the current uptick?

Otis Brawley, MD: “Uptick” is actually a very good word. We’ve received many more calls to our 800-number from people seeking information. We have advised people to get genetic counselling before getting genetic testing. One of the tendencies that we’re seeing is that people who want genetic testing without the counseling. They sometimes want it ask for a specific test, and we have people who probably don’t need testing getting BRCA testing. There are those being tested for BRCA who probably should be tested for Li-Fraumini syndrome or other syndromes.

Berger: That’s interesting that you brought up the counselling before testing. Dr Finley, you know I can’t let you go without asking this: Cigna has made a precedent setting move of requiring— not just offering but requiring—genetic counselling by a certified provider prior to breast and colon cancer genetic testing. There’s been some noise to this and a bit of pushback. Do you believe other insurers will follow in your footsteps? And also, are there enough genetic counselors to meet the need for this protocol?

David Finley, MD: I don’t have a hope whether the other insurers follow or don’t follow us. It’s not my primary or even secondary focus. I just hope that Cigna’s program will succeed in steering people toward genetic counseling and better care. Let me comment on the trend: As a payer we have the advantage of being able to look at claims history and see what’s happening in genetic testing. Our claims data show about a 15% annual uptick in genetic testing. And when I say “about,” it’s because of the change in coding that’s occurred. So, it is an estimate as the coding has changes from 2011 to 2012 to 2013. Our best estimate is a 15% uptick per year. I’m sorry, the last part of your question?

Berger: I asked about the number of genetic counselors.

Finley: I think there are better experts on this panel to answer the question, but the way Cigna looks at it, in some markets, the number of genetic counselors is adequate. In certain markets it’s not. I don’t think it’s one size fits all. In order to make sure that our Cigna customers can get the genetic counseling they need, we have contracted with a genetic counseling firm, IMD, that does these consultations telephonically; if there is a Cigna customer in a market where they cannot get a face-to-face appointment, that person can take advantage of the telephonic counselling with board-certified genetic counselors.

Brawley: If I can just say why women should talk to a genetic counselor before being tested—men for that matter, too, because occasionally we have men who want testing. As a physician, I have had to deal with women who have been tested and ended up with mutations of unknown significance, as opposed to a mutation that clearly increases significance by 40% or 80%. And what these women with mutations of unknown significance go through is just terrible—the emotional and mental anguish is terrible. Some of them actually force doctors to do bilateral mastectomies; in at least 3 instances I know of women have gone through this, and 3, 4, 5 years later what was a mutation of unknown significance is now known to be a mutation of no significance.

Then you have the other issue that I talked about earlier: those who, based on family history, clearly have a genetic pattern that might be a Lynch syndrome or might be a Li-Fraumini syndrome, but because they’ve heard about BRCA they insist on getting the BRCA testing. They don’t get tested for these other things. If I could just add one more thing: I agree with everything that you said, Dr Finley, and that’s one of the motivators behind our program. The other misunderstanding that I believe is out there, but I’d like your comment, is it true that some women misunderstand what the BRCA is and what it does, and they feel that if they’re negative for BRCA they don’t have to worry about getting breast cancer?

Finley: You’re absolutely correct; 95% of women who get breast cancer don’t have any of these mutations, and then there are mutations out there that we don’t know about yet. I can remember people were concerned when we had BRCA1, and women were tested for BRCA1 and they were so reassured that they tested negative for BRCA1, and then a few months later we had BRCA2;

those same women went through the same thing again and finally were found to be positive for BRCA2. There are other mutations out there that we don’t know about yet; and 95% of breast cancers are not due to genetic inheritance.

Berger: Those comments are all very, very important; they help us to think through a logical pathway for both educating and utilizing counselors in an appropriate way. I want to reach out to our counselors and ask: being involved with genetic counselors and being genetic counselors, first, is there a concern regarding the availability and number? Second, I want to bring up the telephonic genetic counseling and your thoughts on that.

Larsen-Haidle: Those are very good questions. As Dr Finley had alluded to, in certain markets in the United States there are many genetic counselors. In areas where the coverage isn’t what we would like, such as rural areas or certain states, I think the numbers do present a problem. But being able to use the telephone genetic counseling or even tele-genetic services has started to bring down that type of a barrier. Patients don’t have to worry about distance; they can still reach a qualified provider to do that pre-test/posttest counseling and have access to someone to appropriately interpret that results. We do see a difference, at least in my state, between the patients who are in rural areas and their level of resources and access versus the patients that are in metropolitan areas. I think it is an important resource to allow counselors to visit with the patient over the phone and still be reimbursed for that time.

Rebecca Nagy, MS: I agree. The other model that we’ve adopted is handling tele-genetic counseling by Skype. Our clinic can Skype to several local hospitals, where the patient can come in and sit with the healthcare provider, such as a nurse, who is their local contact person and has some limited expertise in genetics. It offers the benefit of having somebody local—and I think a lot of people in rural areas especially feel comfortable having that contact at a hospital that they’re familiar with, as well as a nurse who can help with referrals, while still getting the genetic counseling expertise through the phone or the computer. In terms of quality, I think there is an impression out there to this day that telephone counseling is not as effective as in-person counseling, and we genetic counselors worried about that for a long time. It’s been very well studied.

When you look at patient satisfaction and patient knowledge, there really isn’t significant difference between the patient sitting with you versus being on the telephone. Now, there probably are some areas where it’s better to be in person. Some pieces of that counseling occur more effectively when in person. But in terms of how the patients view it, they feel pretty satisfied by the telephone experience.

Berger: That’s great to know. I want to turn for a moment to the Supreme Court decision in the Myriad case on June 13. I would ask: What have you seen as an impact on what each of you all do? I’d like each of you to comment on this. The press covered the Supreme Court ruling somewhat, but they did more with Angelina Jolie’s disclosure (about having a bilateral mastectomy after BRCA testing). Can each of you discuss what the impact of these events has been?

Matloff: We had an unprecedented 3 months because the Supreme Court case went to trial in April, Angelina Jolie made her disclosure in May, and then the Supreme Court decision came out in June. We had a 40% increase in phone calls to our center during this period of time. One of my predictions before the ruling was that if the Supreme Court banned gene patents that within

3 months other laboratories would come forward and offer better, cheaper, faster testing. But wasn’t I surprised when we started getting e-mail advertisements within 5 hours of this decision! Other labs had been anticipating this, and they were up and running, not only offering cheaper BRCA testing, but much more comprehensive, better testing. And all of these labs were also offering (to test for) other genes. So as we’ve discussed, BRCA1 and BRCA2 are not the only 2 genes associated with breast cancer development; some of these panels now include, believe it or not, 40 genes that can be associated in breast cancer development. In my view, having also been in the field for 18 years, the entire playing field changed very, very quickly. We suddenly had all of these options—we could order more testing for less money or certainly the same amount of money that we were taking for BRCA analysis from Myriad. This is both a good and a bad thing.

One of the things that I’ve found is that we had meetings with our whole staff after doing hours of research into all of the options. What each lab was offering, how much it would cost, what the turnaround time would be, and what techniques they were using. What are the pros and cons of this testing for genes? Some genes are clinically actionable, but others are not, so perhaps we don’t want to know about them yet. And I thought to myself, “If we’re struggling through this, how is the facility or an independent physician’s office with no information about genetics going to now make these decisions—let alone interpret the results?”

Berger: Interesting. What about some of the rest of you all?

Nagy: With the Angelina Jolie news, we did see a brief but limited increase in the number of requests for utilization management. From the Supreme Court what we have gotten is about 4 or 5 inquiries from the labs that are offering the BRCA tests about contracting with us.

Berger: And some of the others? Are you busy? What are you finding?

Brawley: The Supreme Court had little effect on us. Long-term, with more companies in the market and more companies advertising, this could change. Keep in mind, prior to the Supreme Court decision, Myriad had significant advertising campaigns encouraging women to talk to the doctors about BRCA testing. I think you have more companies that are doing that now than you had prior to the Supreme Court decision. After Ms Jolie’s announcement—and I should point out that I thought her letter in The New York Times was very well written and very responsibly written—we had a large number of calls. We heard from people who suddenly were very interested in BRCA testing, and, unfortunately, not interested in anything but BRCA testing. We’ve also seen an increase in the number of women getting bilateral mastectomies, which may actually be unfortunate as well. Ms Jolie said it was the right decision for her, but it was not right for every woman, and I think that’s absolutely correct. Many women who chose to get a bilateral mastectomy, if they were to sit back, think, and understand everything about it they might choose a different method of treating the present breast cancer.

Berger: Does anybody else have anything else they’d like to share on that?

Larsen-Haidle: I have to echo what everyone has said. Ms Jolie’s announcement, which was courageous of her, resulted in a marked increase in the number of calls coming into our office but also in our referring provider network. Most of those calls were women who were what I’ll call “the worried well,” who had heard about the story and had a concern, but in most cases DNA testing would not have been appropriate for them. The genetic counseling realm helped to put that risk into perspective for them, and to help them understand why testing was not indicated for their family even though it was necessary for Ms Jolie’s family. Our volume has sustained about 2½-fold higher than prior to her announcement. Her story raised a lot of general awareness.

I have to agree with what Ms Matloff and Dr Brawley and Dr Finley said about the Supreme Court decision. For us the testing choices have changed dramatically.It becomes important for us to look carefully at each of these panels and ask, what are the genes that are analyzed? How effectively are each of those genes analyzed, compared with what panel fits best with the person that’s sitting in front of me? … So the costs of testing have gone down, but it’s also allowed us to expand and address and on the same test another 20 to 25% of families that have an inherited risk. From the genetic counselor’s standpoint, over the last year we’ve done some careful work trying to identify data. There are some studies out there that do indicate that when the genetic

counselor is the person evaluating that family history, that we will identify risk factors that might be missed by other providers without specialized training in genetics. We have to identify those patients and, as Dr Brawley had mentioned, they may not need BRCA testing. They may need testing for Lynch or P53 or some other gene.

Berger: That’s a great lead-in to my next question: Let’s talk about the providers for a moment. How are they getting their education? How are they keeping up? There may be a number of providers that the patient population would be seeing, whether it’s a nurse practitioner, a primary care doctor, an OB-GYN, or potentially somebody with greater specialty. But in the general healthcare area of the family physician, the PCP, or the nurse practitioner, is there confusion? How are they reacting to everything out there?

Brawley: I practice as a medical oncologist, and I’m a firm believer that there are so many things out there that no one person can master everything. So I think it’s impossible for a generalist to understand everything that a person needs to understand about genetic counseling or about genetic testing. That’s among the reasons I think it is very important for most of us, including myself, to refer patients to a genetic counselor for a conversation, even if that conversation has to happen over a telephone. A genetic counselor brings something to the table that many of us physicians simply cannot.

Nagy: Think about the training. Within the medical school curricula now there is more focus on genetics. There is more than there was maybe 10 years ago.

Berger: That’s good to know, because when I trained there was very little, but that was in the dark ages.

Nagy: And it’s gotten better over the past 5 years or so; there’s more curriculum within the medical schools on this, but it’s not enough to really dive deep into the nitty-gritty of the subject. But it’s enough to at least make those medical students aware of the complexity, which is a good thing. Unfortunately for physicians who are already in practice, it’s really up to them to seek out CME education that would give them a background on genetics.

The most unfortunate circumstances occur when a laboratory that may profit from that physician or in a test is providing “education and training.” What we’re finding is that the education is really geared to the test, and it’s not geared to the family history. So they’re telling the physician how to order the test and when to order the test, but they’re not saying when it might not be appropriate. That’s obviously an issue, and it weaves into this whole story of inappropriate testing and improper utilization of tests, unfortunately.

Berger: So is it up to the patients to say to their doctor, “Is this appropriate?” There are a number of places today where we’ve said the consumer has to be more educated, and has to be the leader of his or her own healthcare. Is this one of those places where it’s important?

Nagy: I definitely think it’s important. But I also think that some patients won’t bring that subject up with their physician, for whatever reason. It may be the physician’s responsibility to collect a family history in that office appointment and then know when it would be appropriate to refer the patient to a genetic counselor or geneticist.

Berger: I’d like to concentrate on costs. You hate to have the conversation, but cost is the 800-pound gorilla in the room. We have to be conscious of the limited resources out there. With the increase in utilization and the increase in work that’s being done in the labs, what are the current costs that we’re seeing associated with genetic testing? Is it going up? Is it going down? Is it staying the same?

Matloff: In my opinion there are many, many people having genetic tests that they don’t need, and we also have many people who are getting the wrong test or their test result is being misinterpreted. Then, they’re having the wrong surgery or they’re getting a breast MRI 3 times a year when they don’t need it. So it’s not only the genetic test, but it’s the downstream cost—the wrong surveillance, extra surveillance, the wrong surgeries. At the same time, there are many patients who need genetic testing, but it’s not being offered. It’s not being offered to their family members. So there’s room to do this much more efficiently. Now with the Supreme Court ruling, I think we can also order the right test and order it more cheaply. I see a lot of room for positive change—to decrease our costs and to test the right people for the right things.

Finley: I made a comment before about the 15% annual increase in costs. Cost has 2 elements—unit price and utilization. I think that with the Supreme Court decision, the unit price is going to go down, certainly for BRCA, but probably for other genetic tests as well. The utilization is in 2 areas. First, as has been said, many people are not tested who should be. So in that way, genetic tests are underutilized. On the other hand, you have established tests that are overutilized, by the worried well for example. There are genetic labs that are coming up with new tests that have no proven value, but they have direct-to-consumer advertising, as well as relationships with doctors’ facilities and other entities to get their particular test off the ground. So from the payer perspective, I think it’s important to address all of these things—the cost and the underutilization by people that should be tested, and the overutilization by people who shouldn’t be tested, and tests that shouldn’t be done.

Berger: Are any of the rest of you seeing this? That’s a good point that there be overutilization, but there may be underutilization as well. … Cost comes into play acrossthe board. Does anyone else want to comment around current costs and the appropriate resources?

Nagy: One place where inappropriate testing occurs is not just testing the right person for the right condition, but also using the right test. Once a mutation has been identified in a family, the cost to test unaffected relatives or relatives who may be at risk drops significantly. So, the first test may cost between $2000 and $3000 to identify the mutation in the family, but once that mutation has been identified, other people in the family can be tested for $400 to $500, depending on the lab used. We call that cascade testing. In our outside referrals, when genetic testing has been done by a provider who does not have formal genetics training, over and over again that comprehensive several-thousand-dollar test is being ordered after the mutation has already been identified in the family. For every single person tested in those families, the excess is $2000 to $3000. So, that’s another place I think where the costs can really get out of hand.

Berger: Dr Finley, I want to go back to you for a moment. ... What are you seeing from Cigna’s employer clients around this? Is there conversation? Is there interest? Is there concern?

Finley: We have not heard a lot of feedback from the employer groups. There’s 1 large employer group that always has questions when we introduce a new program, and we’ve heard from them. … But if we’re going to get a lot of questions and pushback or perhaps a pat on the back, I don’t know, it hasn’t occurred yet. It may not occur until they have cases where there are issues, and they come to us and say, “What about this?” They get more attention once implementation is actually under way. But so far it’s been minimal.

Berger: Are any of the rest of you hearing from the employer market or other constituencies?

Brawley: I have not heard from the employer market, but I should note, we have heard from women who have been tested for these genetic mutations who encounter life insurance discrimination. It’s illegal to discriminate on the basis of health insurance, but there are other types of insurance that they’re having difficulty getting because of a non-genetic mutation. This

is something that people frequently don’t think about until after they get tested. In some instances it’s some of these mutations of unknown significance that are causing people to have difficulty getting insurance.

Berger: It will be interesting to see if the same way we’ve seen discrimination issues in the employer market and in the medical insurance market, if this eventually extends to the life insurance market. Can we talk about the errors in the genetic test result interpretation? In some cases by having genetic counselors, some of these issues with results of unknown significance can be addressed, but can we talk more broadly about the errors in the results interpretation? Dr Brawley, has there been a lot of conversation at the American Cancer Society around this? Is there concern?

Brawley: There’s huge concern that people don’t understand the concept of risk. They don’t understand what is a 10% increase in relative risk versus an 80% increase in relative risk.

Berger: Is there a concern, not just in interpretation, but that the testing companies and the tests out there are inconsistent? There’s been talk in the past that if you get the test from 2 different places you will get 2 different results.

Matloff: I think one of the concerns is that there are also some testing companies offering direct-to-consumer testing. You can order the test online; you can have a kit sent to your home. You can provide a DNA sample by saliva and send it back. Some of those companies have been studied extensively; the Government Accountability Office (GAO) found that if you send the same sample to 4 different laboratories, you will get 4 different sets of results and risks. Some of these companies are dodging FDA and FTC standards by saying they’re for entertainment instead of medical use. We recently had a rabbi in our community contact us and say that one of these companies reached out and gave the congregation 100 free tests, and that he was going to launch it at high holiday services and tell people, “Oh, we’ve got this testing, and if any of you come back with something, then you can go see a genetic counselor.” So I do think there’s room for error with unregulated testing. In terms of what I’ve seen so far, and I’d be interested in what my fellow counselors think, but in terms of BRCA testing, most of the companies that I’ve seen offering test so far have been through pre-approved laboratories doing quality testing. I haven’t had any major concerns in the BRCA market to date.

Nagy: Yes, I agree the companies have done a great job. One concern early on was that Myriad held a proprietary database and would not share with the public what would characterize uncertain variance, or variance of uncertain significance. The talk was that these other laboratories didn’t have enough of those data to be able to call mutations deleterious or just natural polymorphisms or truly uncertain variance. But we’ve not had that issue come up for us. From what we’re hearing, these laboratories have robust data, have variant rates that are very similar to what Myriad is reporting. So I think in my center, our initial hesitancy was 2-fold. It was, “What is their variant call rate?” And then, “What is the insurance coverage within that laboratory?” Over time, those have both been answered.

Berger: We’ve talked mostly about BRCA and other associated tests with breast cancer and breast cancer risks. Where are some of the other areas you’re seeing both today and in the near future as a trend?

Matloff: In the cancer realm, at least at my center specifically, I think there’s a lot more awareness of ovarian cancer being part of the spectrum as well as pancreatic cancer, as there should be. We recently have launched a hereditary renal cell clinic. So at least here in the cancer realm, I think that’s where the next areas will be.

Nagy: At our center our cardiovascular program is just taking off. We’re seeing patients who have either diseases of the muscle of the heart or diseases of conduction that have a very, very strong genetic component. So we are gearing up to really expand that clinic. I think the other area where historically genetic counselors haven’t been as heavily imbedded as perhaps they

should be is in neurology; from what we’re hearing, neurologists are adopting some of these newer tests, like whole exon, whole genome for their patients who have something clinically, but they just can’t figure it out genetically.

Berger: Dr Finley, are you seeing requests in other areas?

Finley: Yes, we are, but it’s all over the place. What we’ve done—as we do for most medical services—we identify the services—in this case genetic tests—that are most frequently requested. And we have to make a determination whether we’re going to subject them to utilization review management. So we have about 40 or 50 tests that are on our policy list for which we get frequent requests, and that we have decided it is appropriate to do a utilization management. But I wouldn’t say that there has been any that have popped up recently. I’m not aware of any. …

Nagy: The other area where in the next 5-10 years we’ll see a trend is within the pediatric setting, or the NICU setting where a child is born with a condition that looks to be genetic, and that’s another area where those whole-exon, whole-genome tests might play a br /> cost comes down I think we’ll see a lot more utilization there.

Berger: Let’s talk about future trends. If you were to look into your crystal ball in the general area of genetic testing, what do you see coming? Do you think you’ll see more requirements of genetic counselling before genetic testing? Do you think more and more people will do these home testing? And although there is a natural inquisitiveness, I can only see that increasing other healthcare activities by the so-called “worried well.” But what are the other trends you see? I think one of the other issues we should discuss is genetic testing around the right drug, right dose, right time.

Brawley: I’ll jump right into that because I treat cancer patients all the time. I am really mortified at some of the things that patients bring to me for second opinions, where they have spent lots of money, sometimes undergone unnecessary biopsies to send fresh tissues to labs to do things which, quite honestly, are experimental. They might ultimately prove to be beneficial, but they use usually the home-brew loophole in FDA regulation to actually start marketing something that is not ready for prime time.

Nagy: Dr Brawley, I agree with you. In our cancer center we want that to occur still within the research setting. But I do think there is potential for those types of tests in tailoring treatments and opening up clinical trials to not be so focused on the clinical aspects of the patient, but more on the genetic aspects of the tumor. It has great potential. But at our institution we’re trying to keep that within the research realm at this point, so that we can gather enough data to show that it has value, and then let it go into the clinical setting at that point.

Berger: Dr Finley, are you seeing people request that kind of genetic testing around medication dosing and right drug at Cigna?

Finley: Yes, we do, and we have policies for the most frequently requested test of that sort. What we do is we apply our general criteria toward medical coverage. The basics are that the service, and in this case we’re talking about pharmacogenomics the service has to be proven by evidence published in the peer-review literature to be associated with beneficial health outcomes. And

when we apply those criteria, there aren’t that many that have shown to be associated with beneficial health outcomes. They may be reproducible and have other attributes that the manufacturer tout, but at the end of the day can you show that people live longer or shed some of the burden of disease? And the answer is usually no. And if it’s no, then we would decline to cover it.

Nagy: Like Dr Finley said, there are some like KRAS … that we all know and have been well studied and well validated; those are already in the clinical setting. The research that I was talking about is more where they do kind of a whole exon or whole genome on a tissue and it’s sort of a fishing expedition. They don’t really have a targeted test that they have in mind; it’s more, “Let’s see what the tumor looks like and see if we can tailor treatment to that patient.” And I think that is different. It’s going to take a little more time for us to work through that.

Berger: I appreciate you sharing the differentiated area there because it is very different. Before I close us out, I want to give everybody 30 seconds to give their final thoughts. Why don’t we start

with Ellen Matloff and then we’ll work our around the panel. Any final thoughts to share?

Matloff: Yes, I think that over the last few months I’ve done a lot of research myself looking at genetic counselors who either work at insurance companies or work at laboratories who are helping to review claims coming in for genetic testing to see if, first of all, the right test is being ordered. I’ve been surprised and, quite frankly, horrified. I’ll give you an example. One genetic counselor told me that they frequently get a sample that will come in for a kerotype, a chromosome study, but the indication for testing is whether or not the patient has cystic fibrosis, and that’s not a chromosome disorder. So people are not only ordering the wrong test, but they’re not going to get an answer to the question that they’re asking. So I think that we will probably use genetic counselors in that realm to make sure the right test is being ordered, not only to save healthcare dollars, but to ensure that the patient is getting the test that he or she and the entire family needs.

Berger: That’s interesting. It’s almost like the older days that I remember when I was unsure which radiologic test to get and so I regularly would call the radiologist and say, “This is the problem, this is what I’m looking for, what should I do?” It sounds like this is another area where that kind of advice and support is very important. Joy Larsen-Haidle, do you have any final words?

Larsen-Haidle: I do. I appreciate the opportunity to have this discussion, because it’s so important, considering what we are spending. Each of these DNA tests is often a couple of thousand dollars apiece, so for the healthcare resources that we have, it’s important for us to start targeting those healthcare dollars toward care that actually makes a difference and improves the health of our patients and the family members. … There is talk about how having the opportunity for the patients to be working with a genetic counselor on these genetics test, that it improves their understanding of what that result means. It ensures the patient is getting the appropriate testing ordered, and it also improves their compliance with the appropriate surveillance, or it improves their understanding, so they can have a good conversation with their physician about risk reduction. It also helps for patients to take that same test and share that information with their family members so that same healthcare dollar is expanded further to benefit more people.

Berger: That’s wonderful. Thank you. Dr Brawley?

Brawley: I just love the last comment. I think the most important thing you can get from this discussion is that we all need to appreciate that genetic testing is a very complicated thing, and it really needs to stay within the realm of the expert. In my mind genetic counselors are the first experts that really need to be consulted and really ought to be very heavily involved as gatekeepers in all of these tests, that is for risk assessment. I’ll just add that right now, we should have very limited genetic or genomic testing for prognosis as well for…which chemotherapy should be used. There should be some, but it should be very limited.

Berger: I think you bring up a good point; at a time when we’re looking at ACOs and we’re looking at patient-centered medical homes, it really does take a village, and the genetic counselors are a very important part of that village. With that, Rebecca Nagy, what other final comments would you like to give?

Nagy: All of us in this discussion have experienced quite a bit of change over the last several months, and I think sometimes change makes people uncomfortable. As we go forward with our physician partners we want to make sure they know that genetic counselors, and NSGC as an organization, want to do everything we can to partner with providers to make sure that patients receive the best care. That’s what we’re all here for. And I think within the framework of the Cigna program, for example, we see this as a partnership where we can provide our expertise, give those providers the genetic information that they need to manage these patients, and then turn that patient over to them for their expertise in managing and following the patient and preventing genetic disease as much as we can.

Berger: Wonderful. Dr Finley, you are last but definitely not least here. What comments can you share with us all?

Finley: Genetic testing and genetic counseling are both areas that are changing very rapidly. It’s a complex world, and there are competing interests within that world; there are feelings about how genetic counseling ought to be done, how genetic testing ought to be done. The important point to take away, which was mentioned earlier, there have been a lot of studies on the appropriateness and efficacy of genetic counseling as well as the appropriateness and efficacy of certain genetic tests, and at the end of the day we need to rely on studies that have been published and have gone through peer review. Medical literature should guide us in establishing the direction that we need to go.