I'm happy to announce that you made it happen. DNA today has been nominated in the 2020 podcast awards for the Best science in medicine show. This is our fourth year being nominated and we are up alongside big podcast like Gimlet Media's science versus so huge. Thanks to all the loyal listeners that made this happen. If you did nominate DNA today, check your email to see if you are one of the lucky few with the power to vote for the winner. You can also go to podcast awards dot com and click on the blue box in the middle of the page that reads voting open there. You can sign in and it will tell you if you are one of the powerful people that can vote for the winner of this category among the other. So thanks again. Everyone really helps the visibility of the show and having the show grow. So thank you so much. How is it that we find ourselves surrounded by such complexity, such elements jeans, you and me made of DNA were all made of the same. Hello, you're listening to DNA today.

A genetics podcast and radio show. I'm your host, carried a nine on the show. We explore genetics impact on our health through conversations with leaders and genetics. These are fellow genetic counselors, researchers, doctors, patient advocates and many more science communicators. My guest today are from full gen genetics who is the sponsor of our ongoing Dtc series with their picture, genetics kits. This is the third installment of the series. So definitely go back and listen to our two previous episodes if you haven't already. So my two guests today are Jessica Shields who is a genetic counselor and dr Samuel strom who is a geneticist. Jessica serves as full gents clinical genetics marketing specialist. So her main role is to provide clinical training and expertise to help develop marketing material that's used to educate, support and inform the patients and providers that full gent serves with Jessica's strong passion for patient advocacy. She also leads full gents community outreach. She's a fellow Sarah Lawrence College alumni where she also received her Master's of Science in human genetics. Previously SaM was an assistant professor at the U. C. L. A. David Geffen School of Medicine where he pioneered interpreting genomics results in the context of clinical diagnostic testing for both rare inherited diseases and cancer.

At full gent. He is continuing to forward this new science at an industrial scale. He's also an accomplished researcher in the field of neuro genetics, ophthalmology genetics and molecular diagnostics. With publications in top journals such as science gemma genetics and medicine and human molecular genetics. Thank you so much SaM and Jessica for coming on the show. We're gonna be diving into talking about um different kits that are provided by picture which is powered by full gent Before we do that. I did want to get a little bit of a reference on what we're gonna be talking about today with direct consumers and also the other terms that are kind of related to that SAM could you start us out by giving us this frame of reference to understand what a direct consumer test is and what the other terms out there are. Sure, yeah. Thanks for having us today. Um so a direct to consumer test in service. Pure purest form is something where the only interaction is between a consumer or a patient uh and the company.

So something like 23 and me or ancestry.com or you go online, you get a kid eventually after giving them a sample, they give you a report and there's no doctor involved in that process. Um what we're talking about today with picture is a provider supported model where there always is health care provider involved, a physician and also genetic counseling resources available. Uh and so I think we kind of dive into what that means and why we're doing it that way. Um and I think you had a previous episode in this series that went into some detail there, but what we're talking about today is all in that area of health care providers supported testing. Certainly if people are interested, the first episode of this series, we really tease that out further. So that's to refresh everyone's memories. So, thank you for that. And one aspect within this that I wanted to talk about was just um for those that may not understand or are aware of this. What is the difference between genotyping and sequencing?

Because we're gonna be talking about this during the show. So in case someone doesn't understand this Sam could you also explain this concept to our listeners? Yeah there's a really important concept I think. So uh when you talk about genotyping you're talking about looking for a small number of very specific genetic changes. So use B. R. C. A. One as an example here. So there's one particular mutation in the P. R. C. A. One gene which is pretty common in certain populations of people including Ashkenazi, jewish people at places like 23 me are able to get their tests verified by the Food and Drug Administration FDA for one mutation at a time. So one of these changes. So they have on their test one B. R. C. A. One mutation approved for testing. Uh Whereas when you do sequencing you can potentially discover any mutation and there are actually thousands and thousands of mutations in BRC one which are known to cause increased risk for breast and ovarian cancer in addition to that one which is the most common. But most people who are positive aren't going to have that one.

So when you do a genotyping test and it comes back negative, you've only been tested for one thing. It's like going to the grocery store and the person comes out of the grocery store and you say did you get eggs yes or no uh and they say no and but their card is full of stuff. You have no idea what's in the rest of that cart. So sequencing is looking at everything in a given gene that we know how to look for. That is an interesting analogy I haven't heard before. I might have to use that one in the future and credit you. Um I think that this is a really important concept for people to understand that genotyping is limited if it finds what you're looking for great. But if it doesn't, that doesn't necessarily mean there isn't something else happening that is affecting the gene and the way it functions. And so I think that's an important concept to understand when we're now talking about the different kits that picture genetics provides powered by full gen genetics here. And one of those is picture parenting. We're going to talk about three today. Well four for including our covid 19 tests. That kind of tease. Now that we'll talk about the end of the show. But for now the first is picture parenting.

So this is carrier screening. Um Sam could you explain what carrier screening is and the types of conditions that are being identified through this type of screening? Yes. For carrier screening you're looking for things where the parents are healthy but they have sort of this ticking time bomb that can happen in their kids where the kids can have a disease. Um there are actually a lot of different conditions that behave this way. Some of the most famous ones are cystic fibrosis. Uh, fallacy mias. Uh, You know, there's excellent conditions like Duchenne muscular dystrophy where the mother is a carrier and her sons are at very high risk to have all of her sons at a 50% risk of having the muscular dystrophy disease. And so carrier screening checks parents to see what they have ideally, you check both parents and compare them and see if they share any genes that are both mutated because that's when there's going to be a really strong risk for a kid to have the disease and Jessica bringing in the genetic counseling perspective as someone that um, as counselors, we meet with patients to discuss this type of testing and see if this fits in with their family planning and where they're at in that process.

What is the most ideal time to have this carrier screening done? Yeah, that's a really good question you ask. And of course my overall genetic counselor answer will be. There's no ideal time that fits everybody. Um, you know, each patient's journey is definitely different. Um, but this test can definitely be taken before during or after pregnancy and actually believe it or not. Of the american College of Medical genetics states that carry screening is most ideal before pregnancy because it really does allow and enable couples to learn of their reproductive risks and really kind of consider the whole picture. Um, to get a complete range of what they're different reproductive options are. And this really does kind of allowing with pictures values to just in helping individuals really be proactive about their health and their family's health. So there isn't too early of a time to get carrier testing from carrier screening. From my understanding. I did one of the picture of parents and kids to get an understanding of mind.

I'm not trying to conceive at the moment. That's that's far off for me. But it was interesting to see what conditions I may be a carrier for and learning that through doing it. Um The next kit that you have is picture newborn. So we're kind of going along with the life cycle here of now when someone is actually parents and um giving birth and having a brand new baby. Um what is this testing exactly? Is this for sick babies or for healthy babies? Yeah, it's a great question as well. So picture newborn is really geared towards healthy babies. You're likely to think if if there's a significantly ill baby. And um early on in pregnancy, those will probably be identified um with newborn screening. Um and they really do need that immediate care. Um And what picture newborn is there to kind of help with complementing things like newborn screening would be with babies that might seem healthy at birth but might have underlying health condition.

Excuse me. That might appear within um the first couple of days or a few months of life. And a good example of that would be like M cat or any of the fat tax fatty acid oxidation disorders. Um Some metabolic condition might not be picked up right away. But after periods of maybe illness or fasting, these kind of conditions can arise. And if you're able to catch that um and have a known risk before you can kind of change change the outcome of of these these potential symptoms that could be caused by having this condition. So in a sense it's almost an extra step to newborn screening. Most babies have newborn screening. It's an opt out process and most of the states that's going to differ a little bit uh state by state. But this is kind of giving extra information because as you said with the newborn screening, that's more looking at it's a dry blood spot that you take from the prick on the baby's heel. So you're looking at more biochemical um different proteins and that sense.

Whereas this test we're talking about genetic tests on the show today. So we're looking more to see um if the baby has a certain condition or is has a genetic marker for that. Yeah. Absolutely. We like to kind of look at it as like a safety net. Um Not all the time is newborn screening going to pick up these particular metabolites on the blood spots. And um and it's not fully diagnostic. So by going through and doing full gene sequencing and looking at the baby's actual D. N. A. Um is more of a diagnostic um confirmation that this child will develop or has an increased risk of developing these particular disorder. I think it's important to remember that. All right. Just to recognize that what the state does with metabolic newborn screening is maybe the most successful public health initiative ever. Um It's really been an amazing change diseases like fennel Keaton area used to cause severe intellectual disability throughout the lifetime. And newborn screening of the metabolites that you talked about with the heel prick.

The key, the key reason that works is because it's something that you can do on a large number of people. You can pick up the people who might be affected. And the key there is that there is something you can do about it with PK you you avoid certain foods, a lot of foods but they will live to be completely healthy uh in terms of their metabolic disease. Um So what we did with the new picture newborn is to try to find the conditions that would be tested for by the state if there was something in that heel prick that they could test for. So meeting all the same kinds of standards about medical action ability and screening efficacy basically we started uh in a room with a conference a conference room of the white board. How do you pick a gene for newborn screening and just remove the last thing, which is, there's a metabolite that we can test for and changed it to. There's a gene we can test for and that's how we kind of came up with this list.

So one example is uh immunodeficiency, there's one immunodeficiency test that's done for some kids in some states, but then there's about two dozen different genetic ones that you can test for on the same specimen. Um and it's the same type of disease. It's the exact same reasoning that you'd want to test for it in a healthy new warrant. So I think it's a really exciting uh new way of thinking about this. We think eventually all kids should have this. Um And right now it's really just getting our toes in the water as a supplement to the state newborn screening. We don't imagine it replacing newborn screening because we weren't screening uh has currently conceived is so effective. There's no reason to stop doing it. But this can sort of act on top of it. It's interesting that you fill in the gaps where newborn screening can't quite go, as you said with newborn screening, you have to have certain um markers really to be able to say, okay, we found this and this is elevating this newborns risk for having a certain condition and then they go on to do further testing because its newborn screening were just screening newborns.

Now with yours, you're talking about it being more of a diagnostic test and able to test for other conditions. So kind of between the two, you're able to cover quite a few conditions and now linking this back to the carrier screening that we were talking about at the beginning of the show if a couple had negative carrier screening is doing a newborn test repetitive. Is it the same conditions that are on your carrier screening as would come up on the newborn testing here? So it's it's not the same but there's some overlap. Maybe we should uh make a Venn diagram we can put on your blog, there's there's definitely some overlap. Uh Yeah, the key difference with the newborn ones are some of these genes are ones that are not assemble dominant or even excellent dominant or even excellent recessive. They're ones where the mutation could be a new mutation occurring that's only in the baby. And so if you test the parents, they're going to be negative. But there's there could be a new mutation, what we call de novo uh in the baby.

Uh There's really no other way to test for that right now. Uh And so there are there are quite a number of conditions on our newborn uh We call the newborn genetic analysis. We avoid screening because as we talked about, it's not really screening. It's a it's a diagnostic test. Um So there there are a number of genes in here that are dominant where the child would have the mutation of the parents would be negative and that's a really good point that a lot of these conditions, when we talk about genetics, I think people often think of o being passed down through families, but a lot of genetic conditions RG novo, so kind of randomly happen and so there's a mistake somewhere um and that's not going to show up in the parents. If your screen the parents, that's not going to end up giving a diagnosis too, a baby that is affected by one of these conditions. What I'm also learning with this is that you are only including early onset conditions Jessica why is this? Yeah, I think that's just kind of going back to what Sam was saying earlier with why we picked you know, some of these genes to be included a lot of the times um these conditions are occurring earlier on pretty much under the age of 10.

And we really believe that knowing these risks ahead of time can really help parents prepare for their child's life and the quality of their living. So early identification for these disorders can help with early prevention and management really makes, you know, the parents um feel empowered. They have options. They know that they're really doing everything they can to protect the future health of their Children. So um that would say it is one of the main reasons why we um we have these early onset conditions and then the, I think the council term we like to use is autonomy. Right? So if there's something like like B. R. C. A. For example, um that's going to be an adult onset condition where there's no risk until that person is over the age of 18. Um Let's just wait until that person is 18 and then they can get, they can decide whether or not they want to be tested. Um So, you know, that's something, another thing that was on our white board at the beginning was all the medical ethics, like we don't like, we're not in this to make a quick buck, we want to use the technology to improve health.

Um and in order to improve health, you have to be careful not to make things worse, you know, first do no harm and so doing it, you know, uh adult neurological conditions like something like Parkinson's disease or Alzheimer's dementia on a baby. Um I think it's just wildly uh you know, just not appropriate and it has more likely is more likely to do harm to that individual psyche than to actually help them. And as you said, you want to allow people to make that decision for themselves. If it's not a condition that's going to affect them under the age of 18. So if it's not a pediatric condition or going to have an onset or have symptoms while there's still a child, then usually it's something that we like to save until someone is an adult and can make the decisions on their own. And that leads into your other kit, which is picture wellness, which is looking at a certain number of conditions that kind of fall more into this category of being affected. You know, when you're 18 or older.

Um This is based on the A. C. M. G. 59 SAm. Can you explain what that even means for people that have never heard this before? Yeah, for sure. So the american College of Medical Genetics and genomics, they've added A. G. But everybody kind of forgets that that's the thing because A cmg just sounds like you made a mistake. But that's that's the medical profession, the professional society that that is in charge of licensing genetics professionals, specifically medical geneticists and Laboratory geneticists like myself. Um and so that group came out with a list of originally 57 jeans um that they uh their committee had decided uh sort of met several criteria. Um First of all that they were high risk so that if you have a mutation in one of those genes, you're very likely to have the condition that and that again, the idea of medical action ability that there's something you can do about it um that there's um for cancer you can do increase surveillance for a lot of these are cardiac.

We'll talk about sort of uh the diseases in particular. But you can do things like uh maybe install a pacemaker before someone has died of a heart attack. So there's that's sort of the list is these genes where they're well established. Uh The genetics community is very confident in these jeans and there's a medical action ability surrounding it. Um the list reason now the 59 is actually version 2.0. So they published that list um and then uh got a lot of feedback from people around the community around the world. Um genetics professionals saying, hey, you forgot about this gene or hey, this is actually one of these genes were not so sure about. Um and so they published a sort of an updated version called the secondary findings, 2.0, list of 59 jeans. Um and and that's that's we basically developed a laboratory test that can evaluate exactly those 59 genes. And so this is not a choice that just two people sat down or like let's do these 59.

This has really been in the in the genetics community refined and discussed and debated to see, Okay, what are these final 59 genes at least for now. I'm sure there will be um you know, in the future with more research this will be reevaluated. Um but if someone is healthy, jess, why would they order this test? If they are healthy themselves? Maybe they have a good family history. Why would someone want to order picture wellness? Right. Yeah. I mean I just personally I think we're in a culture where we really just want to um you know kind of be in control and be in control of our health and um anything that we can really kind of get our hands on that can can help with prevention management screening to do that. Um You know we're likely gonna kind of jump onto and I mean there's just there's so many complexities and uncertainty in our health and if we have the opportunity to be proactive and take a picture of wellness tests to kind of figure these things out and learn our risk ahead of time. Um really like I keep coming back to this term but just feeling empowered and being able to be educated about yourself and your health and Being able to take this information and like Sam said especially with ACM.

these things are clinically actionable. We can we can actually put action to these types of results. So I mean to each their own but most of the time we really like to kind of have control of our health and if we're able to be proactive about it I would say that this is probably the reason why people want to and would order this type of testing. And one thing I kind of meant to talk about it and didn't about how this list came about it originally was not sort of in the context of testing healthy individuals. Was actually in the context of testing um People who are already getting a genetic test because they have a genetic disease or a suspected genetic disease. Uh but you're doing something like an exam or a genome sequence where you're looking you have data for 20,000 genes to do a whole exam test. Um There was a question about, well what if you found a mutation in one of these genes in someone who you're testing for something else? Um And so that's why it's called sort of a secondary or incidental findings list.

Um The need to come up with a list sort of sprung from that. It was okay so we've tested this person. Um And I were coming back to B. R. C. A million times but I think it's it's a good one. Um Because uh people are familiar with it. What some people may not be familiar with is that um people who have both copies of their B. R. C. A. Gene mutated can have something called Fanconi anemia which is a severe pediatric condition has skeletal abnormalities and and abnormalities in the blood. Um So you might have a kid who has what looks like Fanconi anemia and you're doing an Xo you can find the genetic cause of their Fanconi anemia. You may also find a mutation that might be one of those the other fanconi anemia genes. But you also find a B. R. C. A. Two mutation. That means they're going to have increased for ovarian and breast cancer later in their life. Um So there's there's a lot of complexity. And so the AMG wanted to come out with a list to say like, you know, if you're going to do an exam sequence originally, they said you must test for all of these whether the person wants it or not.

Um And there was a lot of feedback about that to say uh well people should be given the choice to opt out if it's a child with a severe neurological condition, maybe we don't really need to know if they have risk for breast cancer. Um So the the idea to opt in or opt out kind of came about. But those conversations always kind of turned back towards, well if you're going to test somebody with, you know, a genetic disease that's unrelated to these jeans and you're saying that that's medically necessary. Uh What about everyone else? You know, why are we testing the parents of those people? Oftentimes we are testing the parents of those people. Do we tell them about their results? So it got, you know, there's sort of this like unraveling of the sweater that kind of happened where it's like well wait a second why don't why aren't we doing population screening on everyone and I think as jess was saying, you know, we're in a society where many people I would like to have this information even if they don't have a positive personal family history. Um It can be very difficult for them to get a test right now.

If you want to know your status for B. R. C. A. If you don't have a history um until recently there'll be a very very expensive test that you know, maybe your physician would not just wouldn't do it for you. Um And so the picture wellness really gives the power to the individual to say, well I'm interested in knowing this information. The technology is there. We can do it. Um Can we do it in a safe way that's affordable. Um You know and and so I think we kind of were sort of threading that needle. I think it's important for people to have this options. As you said when they're getting say whole genome or whole excellent sequencing. I've been with patients and where they're learning more about this and saying, okay, am I opting in to get this information or not? And having that be an option. And this is one area of genetics that isn't necessarily in all areas where there is a consensus on this of what these conditions are because they're actionable that patients can do something about them and that it is advantageous for them to learn about it if they so choose.

So I think that's interesting that you know the genetics community has been able to come together um for these conditions and will be interesting to see if other conditions are added to the list and at what point they are. But before we on the show, I did want to talk about one more kit you guys offer and that is a recent kit due to the pandemic, the covid 19 Sam how and when did full gents start doing covid testing? Yes. So back in February, my boss of 2020, my boss started saying, you know, we we're working on developing a test for for covid for this, this virus and if you remember this, this sort of before it was a big deal in the United States. Um it had been, it first occurred in china and then, you know, there was some other countries italy and spain. Uh and I was kind of shocked because I've, you know, in my training, I did some work with infectious diseases when I was a student, but it's been a while and it's not something that are that I was used to doing. And so um you know, it really became our number one project to develop a covid test.

Um and I gotta say it's just been amazing to be a part of this team to come together like this so quickly where we went from not doing any infectious disease testing, not even really having the right equipment to having a fully operational lab. We're now serving Los Angeles County and our local neighborhoods and also uh many other states. So we've been running diagnostic testing for covid since uh since late March of 2020. Um and uh you know bringing it into sort of onto the picture platform was something we thought about early on and wanted to make sure that we did it right because you know hopefully uh you know people are able to go out and get testing um You know there's a lot of like drive throughs and stuff where you can do it um in different parts of the country. But it's not it's not like broadly available to anyone who wants it in every place. And so we brought in the same types of the same type of approach we brought to picture wellness and picture parenting. A picture newborn to be able to offer covid testing. So it's a it's a different um collection method um The nasal pharyngeal swab.

It's we have a video and stuff. It's you stick this thing up your nose instead of in your mouth. Otherwise it's actually kind of similar to how you go online and order the test. I think jess probably could do a better job explaining how that process works. Mhm. Yeah. Yeah. So I mean it is like Sam said it's it's similar to the platform that we have set up for a picture where you know you're able to be able to order this test online at home um safe in your home especially with the risk of infection being really high where it's at. So this is in the safety of your home and not only that but it is um mediated by physician. So when you hop on our website at picture genetics dot com backslash covid 19, you are able to order the test you take. A quick eligibility questionnaire. Um that's set out by the C. D. C. It's approved by the third party physician company that we're working with portal is created. Um everything is then mailed to you, you collect your sample, you mail it back to us and as you mentioned there's a video with how to take the nasal pharyngeal swab.

There's written instructions provided as well and then your results are available within um your portal within one or two days of after you send in your sample. And then following that again with this whole um concept of well you really like that picture to be able to help guide and support you throughout the entire process you're able to call and schedule consultation following um following your results regardless of whether or not they're positive or negative. And that goes to all of our picture picture product lines with the genetic counseling support at the end I think is one of the biggest again differentiators between the direct to consumer testing versus the physician and healthcare mediated. We really want to provide that support at the end. If you have follow up questions again whether or not your results are negative or their positive to be able to provide and shed some light and insight onto those things. Those those individuals are there to help you when you would like.

Well thank you so much for offering the covid test because there are people that may not be able to drive out and get tested in person. So being able to have a kit sent to their house, I'm sure it's just great for so many people and it really is very quick and easy to order one. I think I ordered one and maybe four minutes three minutes, something like that. So, um it was very quick and just really appreciate you guys stepping up during the pandemic to offer your part as Sam had mentioned, you hadn't previously done infectious diseases testing. So this was a new front for you guys and kudos to you for being able to offer this test and thank you in general for coming on this episode. We explored a lot of kits that you offer in just the concepts behind them and what people should be thinking about and understanding when it comes to these kits and that at the end of the day, you also offer genetic counseling with all of your kids. So even if they're not soaking everything in during this episode, that's something that they can get personalized genetic counseling. So thanks so much. This has been a treat to explore all this with you guys. Yeah, thank you. Pleasure. Thanks. If you are interested in getting your own kit, we're doing a giveaway.

So head over to our social media by searching DNA today on twitter instagram and facebook. To enter to win your own free picture genetics kit. And if you can't wait to find out if you have one or you want multiple kits, head over to picture genetics dot com with promo code DNA today for 25% off and free shipping again. The code is DNA today for that 25% off and free shipping at picture genetics dot com. And all the links we've mentioned today throughout the episode. Other episodes, they're all at D. N. A podcast dot com. So you go there, all the information you need is there including the contact form on our website. If you have questions, you want to directly email in email at info at DNA podcast dot com, you can send questions, Jessica. Sam, I will forward those on and thank you again for everyone that helped to get DNA today nominated in the podcast awards. If you're one of those people don't forget to check your email to see if you are one of the lucky few that has the power to vote for the winner. So we've been nominated but still up for grabs of who is going to win the award Now, here's how it works through random selection.

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