The National Society of Genetic Counselors issued a statement this week attempting to dispel what it calls commonly held myths about breast and ovarian cancer genetic testing, and stressed that the increase in direct-to-consumer genetic testing also increases the chances that tests results will be misinterpreted or misused.
“There are many myths out there about genetic testing that make it difficult for people to understand how the testing process works and what the results imply,” Angela Trepanier, NSGC president, said in a statement. "Many tests are only appropriate in special circumstances, and unless you have the relevant facts before testing, all of them have the potential to raise more questions than answers.”
Industry observers have often noted a growing need for genetic counselors as DTC genetic testing garners momentum. However, there are many barriers in terms of insurance, education, and legislation that have kept genetic testing professionals from being more readily used in the healthcare arena.
Trepanier, who is co-director of the genetic counseling program at Wayne State University, spoke with Pharmacogenomics Reporter this week about the state of the genetic-testing industry, the needs of the genetic-counseling profession, and the NSGC’s education campaign about the “myths” surrounding breast and ovarian cancer genetic testing.
Below is an edited transcript of the interview. For NSGC’s statement on what it considers to be the myths and facts about ovarian and breast cancer genetic testing, please refer to the box.
Why is the ASGC issuing this statement?
There are two reasons. One, this is Breast Cancer Awareness Month and then Ovarian Cancer Awareness Month. So, we thought it was a good time to talk about the myths surrounding genetic testing for hereditary breast and ovarian cancer syndrome. Another reason is that there is a new marketing campaign for the [BRACAnalysis] test ... and we thought it was really important that consumers had another view of what the different aspects are of testing other than the marketing aspects of that campaign. Mainly, we are concerned that when people see ads and commercials, they only get one piece of the message about why you would get this type of testing and they don't get any information about who it's for, who it's meant to help, who it doesn't help, what the pros and cons of testing are. Obviously, you can't really do that in a marketing message, but we just want people to know that there are healthcare professionals who they can talk to, who can help them sort out these types of questions if a commercial triggers some interest or helps them identify that perhaps they are in a family that may be at high risk of getting breast and ovarian cancer.
Another thing about these campaigns is that they really do, hopefully, increase awareness, but we really wanted to make sure that it increases the appropriate use of the technology.
Could you give an example of what you would consider negative aspects of DTC marketing campaigns that you believe might increase inappropriate use of genetic tests?
One of the things we're afraid of is that people might present to their primary care physician wanting testing. You have to do a good family history and know what to look for in the family history. Most people who have maybe one person in their family with breast cancer are not good candidates for this test, and this is an expensive test. Also, the way you interpret the test results really varies based on what a person's family history looks like. The [healthcare professional] has to have some knowledge about the limitations of the testing to know what the significance of a negative or normal result is. For some people [a negative result] may mean that they are not at high risk, and for other people it doesn't mean that at all. It depends on other testing that's been done in the family, family structure, and other factors. Another issue is that the ads might lead people to say, 'Oh, great! Here's a test. I'll just go have it done without thinking about the implications of the test.' Once you get this test and get the results, those are the results you have. They don't change. It's important to go get testing with your eyes open and know what the possible risk are and know what the possible repercussions on the family are. Once a person gets a genetic test, it does have an impact on the whole family …
From an insurance standpoint, too, [BRACAnalysis tests] are expensive, at about $3,000. So, if someone has this test, and they have a limit on how much they can spend on their insurance, and it’s not a good test to have, then that’s money that could have been spent on something that maybe they do need for their healthcare.
What is the NSGC's stance on how DTC tests are marketed and sold?
Our position states that genetic testing is best done with a healthcare professional involved because there are medical implications of the information. But our position doesn't go as far as to say ‘don't [market and sell genetic tests DTC],’ but it does say ‘really think carefully and make sure you have all the information and make sure you're getting information from a lab that's gone through the certification process that it needs to before you go on to have a genetic test.’
When you say healthcare professional, do you have a specific type of medical professional in mind?
Really, it needs to be somebody who is informed about genetics. In some cases, that might be the doctor or the nurse. Although, there is quite a bit of data out there that say that doctors and nurses often times don't feel equipped to deal with genetic information. So, if there isn't a doctor or a nurse or another healthcare professional who the [patient/consumer] already interacts with and is familiar with some of this genetic information, then we suggest a geneticist or a genetic counselor.
With the launch of several new DTC personal-genomics firms, do you feel that their services make use of genetic counselors appropriately?
As far as I know, only one of these services is using genetic counselors ... People are seeking this genetic information. However, there is still a question of whether these [technologies] are ready to be used for medical care. I'm not sure that they are. I think there are other ways to get this information at this point that might be more effective. But, if somebody wants this information and they know what the limits are, then it's very appropriate to use a genetic counselor to really emphasize what they can and cannot learn from the test results. In terms of the other healthcare professionals it might help manage their care once they get a genetic test result. As a genetic counselor, I can evaluate studies that determine whether there is an increased risk for macular degeneration. But I’m not going to be a healthcare provider that provides the care; that will be the ophthalmologist. The other benefit of having someone like a genetic counselor is helping people connect to the right healthcare professional, given what their increased risk is for. Sometimes that’s really what people need once a risk has been identified, is just to know who to go to next.
Your statement discusses what your group considers common myths about genetic testing. Do you think that existing DTC personal-genomics firms are marketing their services in a way that propagates these myths, or did they exist before?
The myths existed before. The reason we really wanted to discuss these issues is because we know their marketing campaigns affect other healthcare providers, too, and they are seeing these commercials as well. So we just wanted to make sure that everybody was aware what some of these myths are.
The one that happens quite frequently is thinking that breast cancer runs only on the mother’s side of the family. Sometimes families think that, sometimes healthcare providers think that, and it’s clearly wrong. And we want to make sure that people are clearly informed, so if somebody is presenting to their primary care physician, if they happen to see [our statement], then they know that they do have to take the other side of the family history … These are myths that have been out there for years and years and years. And it takes time to re-educate people into thinking about how to accurately consider this genetic information. So, a big part of our effort is really educational, and we hope that it will make a difference, so people are thinking about these issues …
The other big myth is that there are only two hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, and we know that there are more. Maybe those are rare, but if you have one of those, then it’s a completely different test. It’s important to have the right test, or you’re getting the wrong information from the test results …
With Myriad’s ads, I don’t think they’re misleading the public. I think they’re being accurate. But I think it’s essentially making a bigger audience worried about a problem that really only affects 5 percent to 10 percent of all people with breast cancer. But it’s part of a marketing campaign. And you have to cast a wide net. We understand that, but we want to make sure that if people are going to use this information, then it’s used appropriately.
Some primary-care physicians currently cite several barriers to why they can’t make better use of genetic counselors, including reimbursement and workforce issues. What are some barriers that your group believes keep the profession from growing?
There are about 3,000 genetic counselors in the United States. In some areas, there are just no genetic counselors near by. Some patients just can’t travel. Alternatively, some physicians are very well versed on the genetics of breast and ovarian cancer. And you will find that they are counseling their patients. So, it’s a combination of the fact that some physicians don’t have access to genetic counselors, some that don’t know where to find one, some that can manage their patients themselves, and there are some patients who would rather get the information from the doctor that they have a relationship with rather than someone brand new. All those factors play into whether or not physicians are working with genetic counselors.
NSGC is working on the awareness aspect. We’re trying to make people aware of what we can offer and how we can help as genetic counselors. We’re looking at things like work force issues. How many genetic counselors do you really need to provide care to the people who might potentially need cancer genetic counseling. … We’re hoping that campaigns like this will lead to better conversations and communication between genetic counselors and primary healthcare providers.
What are some efforts at NSGC to address the workforce issues?
Right now, we’re working with the American Board of Genetic Counseling to try determine what the issue is. It’s hard to know how many genetic counselors you actually need. Once we determine how many genetic counselors we need, we’ll start to talk about how we can get there. These discussions are at very preliminary stages, but we are having those conversations. This will involve the professional organizations, credentialing organization, your accrediting organization working together to make changes in the number of genetic counselors that can be trained every year …
Our problem is that there aren’t enough slots to train enough people. We can fill more slots. There are people who want to be genetic counselors that we could get into programs. There is a year-long clinical component to the training, and most of the time if the student is in a clinic, he or she is the only genetic counseling trainee in that clinic.
So, at Wayne State, where I direct the genetic counseling training program, we can only take 6 students each semester, for a total of 12 each year, because of the number of clinical sites where they do their internships. And they have to train in everything, so they train at pre-natal, cancer, and reproductive and adult genetics. They have to have all of those experiences to have the training they need to graduate. So, if we had more genetics clinics, I could take more students into the program. One of the things we’re looking at in terms of the clinical training requirement is wherever there is any way to change that requirement without affecting the quality of graduates that come out of these programs. And that would allow us to train more students.
Currently, the Centers for Medicare and Medicaid Services doesn’t reimburse for genetic counseling. Are you working in any way to change that?
Because we are a new profession, we are not recognized as healthcare providers by CMS. That requires an amendment of the Social Security Act. That’s something we’re working on, trying to get a bill introduced. Because it’s legislation, it’s going to take some time for that to happen. But we’re actively pursuing that.
Some insurance companies do pay for genetic counseling. They recognize it is a valued service. It’s just CMS that’s really a stumbling block.
Which insurance companies do pay for genetic counseling?
Aetna is one. Informed Medical Decisions is another company that will pay for their clients to have phone counseling through their genetic counseling service. Because of the access issue, that genetic counselors aren’t always close by those who need such services, that’s why they pay for phone genetic counseling … Kaiser Permanente, [in certain locations] cover genetic counseling services. It varies from insurance provider to insurance provider, and it depends on what benefits a person has in their policy.
Who are you working with in Congress to get this bill introduced?
We’re looking for a sponsor right now.