Melanie Cole (Host): Like me, have you ever wanted to know your status as far as risk for the BRCA gene mutation for cancer? There are some in-home kits available that can seem like something that might be easy to do but can you trust them? My guest today is Ellen Stone. She’s an Advanced Registered Nurse Practitioner, a Certified Family Nurse Practitioner and a Certified Oncology Nurse at BayCare Health. Ellen, I’m so glad to have you with us and as I said in my intro, this really is of interest to me personally. Can you please tell us what is the definition of direct-to-consumer tests versus patient-directed testing and clinical testing for the BRCA gene mutation?

Ellen Stone, ARNP-BC, OCN (Guest): Yes, thank you for having me and this is a topic that’s very timely. So, direct-to-consumer testing is testing that is done without the involvement of a healthcare professional. It is often done in labs that are not clinically certified. This started off as more of an entertainment function and then has spread to include some medical information.

Consumer-directed testing is one that patients can obtain in their home. There is a healthcare provider involved, although not always directly. You will have contact with a healthcare provider that can order your tests, or the company will provide you with one. And also, these companies offer counseling by a medical professional after results are found. And so that would be consumer-directed testing.

And clinical medical testing is when you go to a healthcare provider, you discuss having testing, whether or not testing is even appropriate for you and then they order the test and obtain the results and make sure that proper follow up is done after the tests are received.

Host: So, what are they looking for? What do the direct-to-consumer tests assess?

Ellen: These started off with the ancestry type information, you know you are 30% English and 40% Norwegian or whatever. And then they started doing what is called SNIPS, those are single nucleotide polymorphisms. They are just teeny tiny bits of genetic information. It’s like a spot check like for example, if you wanted to be screened for melanoma and the physician say okay. Most melanomas occur on the head, the face, and the arms. Then they would take just look at a few spots on your head, face, arm and so forth. It’s like a spot check. They don’t fully sequence the DNA.

Some of these little bits of information may or may not be important. Often, they need to be combined with other things like family history to be important. And then there is one company that does have approval to test for only the three most common BRCA mutations in the Ashkenazi Jewish population.

Host: So, that would be me, Ellen and so that’s why I’m so interested in this. Now for the direct-to-consumer; is there any counseling pre and post testing involved versus compare for us what we would get if we were doing it in a clinical setting.

Ellen: No, there is no counseling prior to testing. They do have information on their website that they recommend that you read. And there are quite a few cautionary tales about BRCA in this setting. If you’d like for me to go into that.

Host: Then what’s the difference with the counseling that you would receive in a clinical setting?

Ellen: We would – always when you have – when you speak with someone regarding counseling for these genetic results and I’m speaking specifically of cancer in these instances. A complete family history would be taken, members of the family who have had cancer, at what ages, and then the provider would decide what sort of testing is needed, if any.

And you would be informed of the implications. Many medical tests now are multigene panels and they can vary anywhere between maybe 25 genes all the way up to in the 100s depending on the panel. The ones we run are typically somewhere between 25 and 40 genes for routine screening. And several things that we always point out in this counseling is what your results could be and what those mean.

You can have a positive result that does not mean you’ll get cancer. It means that you are at higher risk. You can have a negative result. It doesn’t mean that there is not a genetic component to the cancer in your family, but it means there’s not anything that we can find at this time. The other possible result is a variant of undetermined significance which is just like it sounds. There’s a difference in your DNA in one of these genes that’s different from the general population. It may mean nothing. But we don’t know that yet.

Fortunately, about 80-90% of these according to the current literature do eventually be proven to be benign, not increase the risk of cancer. But you have to understand that before you get results. We’ve had many people that have had even medical testing without adequate counseling who misunderstand these results.

So, that’s some examples. If you have a strong family history of breast cancer for example, you might have testing and it might return results that you are at higher risk for a totally different cancer such as colon cancer, kidney cancer, gastric cancer. So, you have to be prepared for that. Also, the implications for the family, and the family dynamics as well as legal implications such as privacy concerns and genetic discrimination as far as insurance and those kinds of things need to be addressed prior to testing.

Host: Well it certainly is a complicated decision to make Ellen and as far as post-testing counseling; if you are doing those tests, and one comes out positive; wouldn’t you then just have to go to the hospital and kind of make sure that it wasn’t a faulty test, because you are going to want to get counseling to make that big decision of what you are going to do with that information?

Ellen: Yes, that’s correct. Many of these labs have found to have as many as 40-50% false positives. It does need to be confirmed by medical testing and yes, counseling is key. There are options that are available to people, different options, surgical options, surveillance options and how to communicate this to your family members and resources for them to be able to obtain testing, if needed.

The main difficulty from this perspective regarding the BRCA testing that’s offered direct-to-consumer is that it will miss over 90% of all BRCA mutations that can lead to a high risk of cancer. They test for only three mutations, again, the three most common Ashkenazi mutations. There are over 1000 that we know that cause increased risk of cancer. With Ashkenazi ancestry about 80% will have one of these mutations, so you are going to miss 20% of the Ashkenazi population will have a different mutation than these three. And in other populations, it’s extremely low likelihood that they would have one of these three mutations so about 96% will have a different mutation.

So, many people feel reassured when they get this result that they do not have what’s called hereditary breast and ovarian cancer syndrome; when most of the time, that may not be the case.

Host: Ellen, then, are there any benefits to this direct-to-consumer testing?

Ellen: The one benefit that I’ve heard discussed in the literature and at conferences is that it does raise the awareness of the public about genetic testing and creates interest and hopefully people will involve healthcare professionals such as physicians, nurse practitioners, genetic counselors in these decisions.

Host: I mean you can find all this information online and then you go, and you order your kits. When you’ve done all of this, you sent them in; do we have concerns about quality control; you mentioned false positives for sure. But what about third party use or lack of informed consent, any of these kinds of legal issues involved in that kind of thing?

Ellen: Right. We’re very careful about informed consent in the medical community. You need to know what you’re getting before you – there can be implications that you really had not thought of and I hear that all the time when I’m counseling patients, oh, I never thought of that. And without that, it’s hard for a nonmedical person to understand what to do with this information.

And yes, there are concerns about quality control. All medical laboratories are inspected and have quality control standards that they have to meet. And these labs are not subject to that. And what happens to the data is also of big concern.

So, you really don’t know what is out there about your information or how it’s going to be used. You have to get down to the very fine print and make sure that you understand what’s going to be done with your information.

Host: Well you just cemented it for me, Ellen. I’m certainly not going to look into these, and I would definitely do it the official channels. Wrap it up for us. What would you like the listeners like me, to know about these direct-to-consumer over-the-counter tests, things we can get through the internet versus doing it in a clinical setting if we really want to know what these results are and what we do with them? Give us your best advice.

Ellen: My best advice would be to only use these direct-to-consumer testing for basically ancestry type things and even then, just understand that it’s not 100% accurate. It’s going to give you some vague idea but that’s all. Make sure that you understand the disclaimers about how your data would be used. For any medical testing or anything regarding medical results or risk management; we highly recommend that you speak to a healthcare provider and or certified genetic counselor.

There are not a lot of genetic counselors to go around. This field has been rapidly growing. So, that can be difficult in some circumstances, but your healthcare provider should be able to direct you. And ask, ask a lot of questions. There are websites available like to Cancer Society and the National Institutes of Health is a very good one that you can research this type of information. But definitely involve your healthcare provider. It’s a big decision and these can be very life altering results.

Host: Great information. I appreciate you coming on, more than you know to explain all of this because it seems inviting and it seems like something wow, it would be easier to do in the privacy of your own home, but there are really a lot of issues surrounding these over-the-counter tests, these internet tests, so thank you for clearing up all of those options for us. You’re listening to BayCare HealthChat. For more information, please visit www.baycare.org, that’s www.baycare.org. This is Melanie Cole. Thanks so much for tuning in.