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#130 DTC Series: Anne Greb on 23andMe

by Kira Dineen
September 4th 2020

As part of this episode, 23andMe giving away a free DNA kit! To enter, go to DNA Today’s Twitter/ More

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This episode continues our direct consumer genetic testing series. So be sure to check out all the previous episodes at DNA podcast dot com or search DNA Today in your podcast app. Today, we're hearing directly from one of the largest DTC companies in the world. 23 me joining me for this conversation is an Greb who is a genetic counselor and serves as the lead of the medical education team at 23 me in this role, she is responsible for developing educational initiatives that equipped healthcare providers to better integrate personalized genetic information into the everyday care of their patients previously and was the program director of three genetic counseling programs. Wayne State University, Long Island University and Sarah Lawrence College. She also directed the medical genetics course taken by first year medical students at Wayne State University heads up 23. Meat is doing a giveaway to go along with this episode. To enter, go to DNA today's twitter and facebook at DNA podcast and our instagram at D. N. A radio and look for the post of a picture of a 23. Make it with simple instructions to enter this giveaway.

Don't miss your chance to win this free DNA kit. You can also go to twitter facebook and instagram and just search DNA today and you'll end up finding the post there. It's a pleasure to have you on the episode today and thanks so much for taking the time and joining the program. It's my pleasure to be here. Thank you for having me. So to give some people some perspective about your career And now being at 23 and me, you were the program director at Janet counseling master's program. Um that was at Wayne State Long Island University Sarah Lawrence, which we just missed each other there. Um what led you to transition to joining 23 me, what do you want to be part of the team. You know, I get asked that question a lot and I do need to say, I absolutely love, loved being a program director and I do every day. I miss the students that I was able to work with. Um but I think the answer to that question, there's really two parts of it. The first part, I am really fascinated by this interest that the general public has in personal genetic testing. Never in a million years.

If I sort of look back, um fast forward, would I have thought that sort of genetics that this is a space um that that we would be that so many people would be engaged in. So many people would be interested in learning about their genetic information and there's lots of reasons why people pursue personal genetic testing, but I just really see opportunities. I see opportunities to um educate the general public about genetics and genomics. And I think genetic counselors have a really important role in this movement, if we want to call it a movement. So I just really wanted to be a part of it and I wanted to learn more about it. The second reason is um a big part of my career. I also is dedicated to educating healthcare providers, primarily medical students about genetics and I know firsthand that they just don't get very much genetics education and their medical curriculum. And I see an opportunity now because when do you need, once you learn genetics, when do you learn anything in life as adults? It's when when it's relevant and when it's important.

And I see the primary primary provider, primary health care provider workforce right now People are coming in, their patients are coming in and asking them about their DTC genetic test results and so they really do have an opportunity now to learn genetics. There's a reason to learn genetics and that really is the focus of my role here at 23 and me is to do educational activities really to help primary care providers answer our customer questions about their DTC genetic test results. And it's helpful for those health care professionals, either genetic counselors, geneticists or people that are outside of that genetic expert area to have a better understanding of consumers, motivations for pursuing DTC genetic testing as you were kind of hinting at earlier. What do you see like now in this role of being much more exposed to D. T. C. S. What are the most common reasons people are seeking out doing this form of testing? Yeah. And that is certainly an area I've learned a lot more about and and not just sort of like the list of reasons people are interested in having a personal genetic test, but really sort of understanding kind of the reasons why and why it's relevant to their lives.

And I think it's genetic counselor is one thing early on that we learned that we really do value the unique perspective each patient brings in terms of, you know, all of our patients have um their own values, their own belief systems sort of what motivates them to pursue or not pursue genetic testing is all very different and that's what makes our role in our jobs really fascinating and interesting and I think what I've had to do or what I've had the opportunity to do is really sort of look at the reasons customers pursue genetic, pursue personal genetic testing and then really how is that relevant? I think to us as genetic counselors and one of the two top reasons cure is actually people are interested in ancestry, people are interested in genealogy, but I think if we think about that as genetic counselors, there certainly relevant information, we know how important ethnicity is in terms of understanding risk factors and then we also know that people, you know, they're they're interested in their identity, they're interested in celebrating sort of who they are and where they came from and what other traditions and what are their, you know, the group that they came from, their religious beliefs and stuff like that.

And as tonight counselor counselor, that's all about cultural competency. It's all about really understanding their worldview and their perspective in terms of the health information. Again, that's another top reason um customers are interested in personal genetic testing and I think I think they see the potential in genetics. I mean I think some of the motivations maybe a little premature. And I think just in genetics in general, we we still have a ways to go. I think for things to really have pure clinical um utility really make a difference in terms of health care. But I think people see the potential and I think people see that it does give them um information. And if you look at sort of the top types of health conditions, people are interested and they're interested in knowing about the risk for breast cancer. They're interested in knowing about their risk for heart disease. And people really want to know about Alzheimer's disease, which again, there's a lot of controversy and I think us as councilors have opinions about whether or not that is valuable. But for a lot of people there is what we call personal utility.

There really is valuable for them personally to know that information. And with people doing this type of testing, you know, direct consumer, they're doing it directly there picking up a kit and being able to swab or spit or whatever the form is now. Um, and send it in. It kind of goes into how so many people doing this. How is this going to be integrated into routine medical care? Because it's not just a few people doing this. It's like a big chunk of the population and growing and growing. How do you see it being integrated or what ways would you like to see it going as we're starting to explore this area? Yeah they're really great question. I mean in 2019 26 million people have had a direct to consumer genetic tests. So yes they've been able to sort of um facilitate their own genetic testing experience without the input of a health care provider. And it is as you described, really submitting a saliva sample through a kit, sending it in the mail.

And 2 to 4 weeks later they're able to access their um sort of protected portal on the website and really view and look at their genetic information and we know that 30% of chi customers who undergo a DTC genetic tests do take the information to their health care provider. And I do work a lot with really reaching out to primary care providers, um family medicine doctors, internal medicine, nurse practitioners, physician's assistants. And these healthcare providers really do have a good relationship with their patients in terms they have ongoing care and they know their patients and they know oftentimes their patients, families and you know they they're getting questions and they want to know, you know, how do we answer the questions and how do we sort of integrate this into our practice? And I really think there are opportunities um certainly any any relevant test information is important if a customer identifies that they do have, you know, a variant and a. B. R. C. A one or two gene, obviously that's clinically significant.

But I think my message to primary care providers is this this is a really good opportunity if patients bring it up or maybe even ask them if they've had a consumer um, sort of genetic test and asked them what were their motivations, you know, were they interested or did they have it because of a concern about their family history? And I think it's a really good opportunity then to update the family of history information to ask their patient about their family history because oftentimes, as we all know, as Jack counselors, ADTC genetic tests such as 23 and needs health and ancestry test is really not intended for people that have an increased risk for genetic condition based on their family history. Those people um, certainly need to have clinical genetic testing based on their specific indication. So it is an opportunity for a primary care providers to sort of do that family history screen to see if their patient. Was this the right test or should they be referred for genetic counseling and more specific genetic testing. I think it's an opportunity to ask about ancestry information about ethnicity.

Again, that has um, relevant, certainly from a healthcare perspective. And then another thing I think people don't sometimes think about is one of the big motivators as we talked about is ancestry, but another motivator that's becoming more and more popular is people are interested in finding family relationships or sometimes they find out about family relationships that they didn't anticipate or didn't know existed And I think this is a very important role for healthcare providers to ask their patients. Was there any information you found out that you didn't anticipate? Did you find about relatives you didn't know about? Did you ask them about their health information? It's away again to sort of expand and get more comprehensive family history information. And then I think to also talk about just the ramifications of identifying and finding out about information that their patients perhaps didn't perhaps didn't anticipate or didn't know about. And with all this information for so many people that are doing this type of testing, they may not have done any type of testing if it wasn't for this direct consumer model of maybe they don't have something that is going to bring them into see a health care provider and they're doing it for fun or whatever.

They're like other reasons are in motivations for doing it. And then it may bring up information that then leads them to have these conversations with maybe starting with their G. P. And kind of moving from there. So it's an interesting perspective to bring it up that I think it's not uh way that a lot of people you know in in our field and get counseling kind of we'll talk about of like this is reaching people that may not be reached otherwise and starting those conversations and starting that education process. I was surprised. So 30 percent of people are bringing this to like their GPS. Is that what you were saying earlier? Yes, that's what several studies have shown. And those studies are actually a couple years old. So I anticipate the number is probably even higher than that. But I think Kerry, you bring up a really important point in the way that I, you know, I think as adults, how we learn, we have to sort of new technologies and new things that come come about. We have to sort of relate to relate them to things that we already know. And so the way that I sort of think about direct to consumer genetic testing, Personal genetic testing is really like a screening test.

And you know, genetic screening has been around, you know, with newborn screening and carrier screening and prenatal screening. I mean this is gonna concept we're very familiar with and you'll find even primary care providers are familiar with the concept of screening. And so screening tests are really meant to be offered to healthy populations. Um They're meant to be offered to people who otherwise aren't identified at increased risk. Right? A screening test is not meant for somebody who already you can identify that they have an increased risk. Those patients really need to go um and then do more comprehensive testing, screening tests should be widely available. Um Oftentimes they're broad, they're not targeted. They're not meant to be comprehensive they need to be um not very expensive. Again a very expensive screening test doesn't make sense from a population health standpoint. And again they're not meant to be diagnostic and we know absolutely there are people who otherwise wouldn't have had a clinical indication for genetic testing. Either it just wasn't picked up for their family history isn't suggestive or they have a small family history or their adapted or their donor conceived.

I mean I think we can think of lots of reasons why um someone would be a candidate or would be identified as increased risk for a genetic condition. And so this is exactly the type of test that can can pick up a subset of of these individuals who otherwise you know really wouldn't have been brought to the attention of the genetics community or health care providers. And and we're seeing that we did um a study that we actually presented at the san Antonio breast cancer conference a year ago where we looked at a population of R. B. R. C. A. One and two carriers. And sure enough half of those were male and half of those were female. And I think we oftentimes forget about the mail carriers which is exactly what you but expect it's an artisanal dominant condition. And then there were a fair number of um people who did not identify as Ashkenazi jewish but actually had genetically detected Ashkenazi jewish ancestry and did obviously have a variant? So again how would those individuals have ever known that they even had a risk if they hadn't done um sort of a personal genetic test.

And you bring up a good point with the B. R. C. A. Testing of that being something that 23 me offers in your direct consumer testing. I'm curious in terms of how you are educating people and really being able to express this information of as genetic counselors. We understand these topics and that P. R. C. A. Test and you have to look at how many variants are looked at. And from my understanding 23 me looks at the three variants you were mentioning um that are common in the Ashkenazi jewish community but there are about 1000 variants that could be existing that are less common but that people can have those variants that can lead them to be a carrier for B. R. C. A one or two. The two genes. How does 23 me make sure that consumers understand this? That 23 me is looking at three variants as opposed to the entire gene, correct? Yeah. This is I've done a lot of genetics education in my career and and this is one of the most challenging concepts I think for a lot of people to understand.

Um certainly our patients we spend a lot of time explaining this in a genetic counseling session. It's something I spend a lot of time trying to help healthcare providers understand kind of limitations and what does sort of a negative genetic test mean? What are the implications of that? And so I think this is something at 23 me that we work really hard um and provide a lot of educational resources which are included in the report itself. And if anyone's interested in looking at the sort of the educational content of one of our reports, including the B R. C A one and two selected variants report. We do have copies um on our healthcare provider's website and um we have tutorials, we have resources in our customer support center. Um, patients oftentimes color customer support center because they have questions about their test results. So certainly there are people available who can help explain the limit, you know, sort of the meaning of a negative variant and then certainly if if something is positive what to do Um about that.

One thing I think that people is important that that that I I didn't um appreciate or didn't really understand is fully until I got to 23 and me is just the rigorous process at 23 and me had to go, has to go through in order to have one of their reports um sort of be FDA authorized to be marketed to consumers. So in addition to things such as making sure our tests are accurate, making sure that the genotype is related to some sort of clinical um potential clinical diagnosis or for genotype we also had to prove um that customers could understand the information in the reports. And so this consumer comprehensive the studies that that actually we haven't done outside outside groups did this um really did many focus groups and um had many different reports and they had to sort of you know have have um participants who, participants in the focus groups really read the information and then do studies and tests to make sure that they understand.

And one of the biggest factors that was important is that do people understand um the meaning of a negative variant report? So if we weren't able to convince the FDA that consumers were able to understand this information, we wouldn't have been able to get the FDA authorization. Um I think it's something, again all of us need to continue to educate um about genetic testing about what it means and about the limitations and isn't the right test. I mean This is things I think as Janet counselors were very good at doing. Um but but at 23 and me we we we recognize just how important it is for people to understand, understand this information and going to the lengths to have FDA approval. I was looking around and trying to educate myself on how DTC stand with the FDA and definitely correct me here is 23 me, the only direct consumer that has the FDA approval. So the FDA regulates the whole topic of um regulation of genetic test is an interesting, interesting topic.

Again, something they've learned a lot about. So the FDA does regulate certain categories of direct to consumer genetic tests. And it's these categories that the FDA feels do actually have a higher impact on medical care. And so those categories, there's four of them. And if you look at the FDA website, they're they're sort of listed very clearly. So one category or the genetic health risk tests, those are mostly the single gene conditions. Another category is carrier screening. A third category is cancer predisposition. And then the last category is pharmacogenetics and 23 me does have FDA authorization to market direct to consumer genetic tests and each of these four categories. And yes, kira we are the only company that has um the FDA authorization. No other company really has gone through that rigorous process. Yeah. It took me a while to learn and hearing from laura Hirscher who looks a lot about, you know, D. TCS and her writing and everything that it's interesting to kind of get the different perspectives and understand how it all works.

And then as soon as you learn everything changes, it's hard to keep up with and in the genetic testing and genetic housing community there has been criticism of DTC testing and a lot of different opinions and views and this is a very controversial area within the field. And one of those concerns is just the accuracy and we talked about this a little bit with the screening, which is, I like phrasing that way in terms of DTC is to kind of quickly expressed kind of the purpose of DTC s in how they can be used. I was reading the 2018 paper from Angry that cited 40% of DTC results were inaccurate being false positives. Now, the sample size of this was very small. It's only 49. So this is like a tiny study and I imagine there's gonna be a lot more, but I'd like to hear more of your insight on a larger scale of just the accuracy of testing of when someone gets a positive. Again, we're kind of looking at the screening area and that's our mindset here. But is this something that people should then be getting medical grade testing?

I mean, how how accurate is this and like what are the next steps for patients to be taking from there? Yeah, that's a really good question. And I I there is a lot of confusion about the embry study. I think it is an important study and I think it's certainly a study we should pay attention to, but I think where people are confused or where there isn't clearly made a distinction in the test that so the genetic health risk tests and the carrier screening and the cancer predisposition and the farm ago genetic test that we offer directly to our consumers. So consumer buys a kit, they submit a sample um You know they wait the 2 to 3 weeks to get the results and then they go into their 23 me, you know, password protected portal. And they actually look at their test results that we have given to them based on um tests that are FDA authorized to do These tests again have gone through a rigorous process. And we need we we have demonstrated you know with 99.9% accuracy um that we're looking for very specific the presence or absence of very specific well known variants that we know do have a high impact those those results are accurate.

Again, the FDA would not allow us to to market these tests to consumers if they were not accurate. Now. What um most consumer driven genetic testing companies and even clinical labs and most of the genetic research studies that are looking at population um genetic screening, whole exon sequencing. Most of those entities actually do allow their customers, their patients to download the raw data. And 23 and me we also we believe people own their genetic information and they have a right to their genetic information. And it is one of the motivators for why people sometimes do a direct to consumer genetic tests as they do want access to the raw data and they do want to do further expo exploration. Either it's because they're looking for relatives or they're in search of an answer about a disease on this diagnostic odyssey. I think we're all you know sort of familiar with what patients sometimes go through to get a diagnosis and but it's really important to understand that though that data has not been validated right.

It's raw data, it hasn't gone through an editing process. And so for customers or patients who take that information and upload it to a third party interpretive service, there certainly are issues about accuracy. It could be accuracy with the data itself. It could be how the third party interpretive services interprets the data. Um There's just a lot of issues or problems around it. So the Ameri study, they looked at the raw data and found that 40% of the raw data was not accurate. And so that's just I think reinforces that this information should certainly not be used for diagnostic purposes. I think genetic counselors have a really important role to sort of help patients sort through this. Um But this is not, I think it's it's not an accurate statement to say all of DTC testing. 40% of it is not accurate. That's just not a true statement. So there is a huge distinction then between the testing that are the reports from 23 and me which have been um you know the the sequencing or what the variants you're looking at is being done in terms of like the genetic test and then that information is looked at by a genetic expert, a data analyst or whatever their title is.

And then that is a report that gets sent to the consumer. So that's the first one. And then the second one is that you can find extra information in this raw data, but that's not that's not the part that is FDA approved. That's just extra information that you're providing consumers because you're like, well we have this information so we're being transparent so it's that that's huge. And I think that's for me when I was reading it, that wasn't um is clear for like where the distinction was. And I think that's That's major in terms of when people are getting a report from 23 and me that being accurate and FDA approved. And it's that raw data where that's that's more of an unknown and more of a preliminary data. Right? And I think that is an important distinction. And people unfortunately oftentimes when they're presenting this data, they are not making that distinction and it's not like 23 meat gives people the information they give people the raw data, they take that raw data and they go elsewhere to seek information. So we're really not interpreting that data for them at all. It really is the raw data that they take elsewhere and its other resources that are interpreting it for them and that's where the inaccuracies.

Again it's raw data. It's not meant. I mean it's it hasn't been validated and hasn't gone through. Um you know the same sort of quality control measures that um a clinical test has gone through or are FDA authorized tests have gone through just like real sea and research. Exactly. Exactly. Exactly. Actually that's a good analogy. That's a really good analogy. Yeah you have to have people actually look through and have the bioinformatics team and and that's a whole set up of most genetic counselors are not well versed in that that that's kind of a different department or an extra skill set you may may learn. Um But yeah interesting just to hear like the nuances there and just how important they are to be able to understand the impact of studies like that and you know I'm sure many to come as D. T. C. S. Are really exploding before we sign off. I did want to ask. We've touched on it a bit of the information for healthcare providers to be talking about with their patients when they're bringing in this test report. But if we're zeroing in on genetic counselors this is something that more and more so patients are coming into our genetic counseling offices and bringing DTC reports with them.

What is your advice or tips for genetic counselors on how to handle this what information to tell patients how can 23 me kind of help genetic counselors because there's so many people that are starting to do this now. Yeah, I love that question and I really have enjoyed sort of thinking about that and I I think um I'm not sure I have all the answers to the questions, but but I really have thought about as genetic counselors, I think we do have an important role. Um, I think I think the challenge is is, you know, a lot of our traditional genetic counseling goals. I mean, oftentimes what we do in a session as we explain, um how inherited diseases and conditions may affect our clients and their families and you know, how the family and medical history sort of impacts the chance of disease. Um, you know, what's the right genetic test for clients and and and who should be tested. And also we spend a lot of time, you know, making sure people make informed choices about testing and then help them adapt to whatever situation that they're in.

I think some of the challenges for us is genetic counselors is sort of goal setting and that contracting when you're working with a patient who comes in because of an issue around consumer driven or direct to consumer genetic test is, you know, sometimes those motivations for personal genetic testing oftentimes are outside of the traditional scope um of trinity of genetic counseling because oftentimes they're not health related and there's more of that sort of personal utility. Um the decision to have genetic testing has already been made and that's a big part of what we do is help people sort of navigate that decision. Well, you know, the decision's already been made. You know, I think, I think with, with DTC genetic testing, um some of the expectations that consumers that our patients have um do have limited clinical utility and um, you know, I think from our standpoint, they may seem unrealistic or they may seem like, you know, it's a little premature in terms of where genetics is at in terms of again, really having um that clinical utility piece.

I think the information that that, that consumers obtained from genetic testing can be overwhelming and you know, sometimes they're just not prepared for potential results and as we know, the family and medical history hasn't been incorporated into the genetic testing process. So a lot of sort of the tools that we have and the way that we're sort of used to navigating and conducting a session and really just addressing the patient's concerns. It's just really different. Um and I think, and I think it's it's a matter of just like looking at our um genetic counseling process and really how can we adapt the genetic counseling process? I think the better fit. I think the needs and goals of patients who have questions related to consumer driven um genetic testing. It really is, you know, we have the skill set. It's really, I think just a different application and I think we also have to just come to grips with the fact that, you know, we really are not the gatekeepers of genetic testing, I think in the past we were and there were a lot of good reasons for that, but we're not anymore and people are having genetic testing and but we still are there and we still have a very important role to really help people um adapt and understand and make sense of this information and how is it relevant to their lives?

I think that's very well said in the great note to end on, appreciate you coming on the show and and also just interesting hearing from someone working in industry, of coming from having, you know, a lot of different roles in your career and being able to be in this, this new role in industry and being able to explore that. I think it's great for people to hear because more and more genetic counselors are working in industry and sometimes straight out of grad school, so I think it's great for younger genetic counselors to here, how your role is going and everything, so thank you so much an thanks kier, I really enjoyed and it's it's Janet council is the best profession ever. I I just, every job I've had I really loved and then have enjoyed and I really enjoyed my role here, I can definitely second that we're a little biased, but yes, genetic counseling really is great and so versatile as you know, we see your career and so many others. So thanks so much ann you're welcome. Don't forget to enter our giveaway for a free 23. Make it simply search DNA today on twitter facebook and instagram and look for the post of a picture with a 23 make it there's instructions on there to enter the giveaway.

Part of that is following 23 me on platforms and it's simply at 23 me and for the health care providers listening to this episode. Or if you're curious, you can go to 23 men dot com slash medical where there is information tailored for healthcare providers to learn more about the kits. As always. You can go to DNA podcast dot com to listen to over 100 and 25 episodes of the show. Not all of them available in the podcast app because we just have too many now and feel free to send in any questions for myself for an into info at DNA podcast dot com. We love answering your questions and a final favor. Please rate and review in your podcast app. Especially apple podcasts. It truly helps the show grow and we so appreciate it. Don't forget picture genetics is providing Covid 19 testing. Their usual kits are for family planning, newborn health, personal wellness and disease risk. But in an effort to help during this pandemic, they have added covid 19 kits to their services. You can order your own kit by going to picture genetics dot com. Previously, I did the picture parenting kit to learn about my own carrier status for some artisanal recessive conditions that I could potentially pass on to my future kids.

And now I ordered a covid 19 test myself. It was really easy. I just answered if I had any symptoms and what type of settings I'm in in terms of my exposure level. And just a couple days after my kid arrived in the mail, you can get your own covid 19 testing kit at picture genetics dot com. And thank you to picture genetics for sponsoring our DTC series here on DNA today and providing this very important testing. As I mentioned, they have numerous other kits where you can use code DNA today at checkout for 25% off and free shipping. Go check it out. Picture genetics dot com. Thanks for listening and join me next time to learn discover new advances in the world of genetics and DNA. We're all made of being Yeah

#130 DTC Series: Anne Greb on 23andMe
#130 DTC Series: Anne Greb on 23andMe
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