DNA Testing and Privacy (Behind the scenes at the 23andMe Lab) - Smarter Every Day 176

What's up, I'm Destin, this is Smarter Every Day. You've probably heard of 23andMe. It's one of these companies where you spit in the tube and you mail it off, and they do DNA testing and give you ancestry and health data. Well, here's the deal. They approached me and asked me if I would make a video on Smarter Every Day about them and what they do.

But there's a problem with that. I'm really fascinated with this technology; like, I think this is the future of medicine. Imagine a doctor walking into your room, opening a chart, and saying, "Oh, well, I can't give you this drug because you're genetically predisposed to a negative reaction." That is the future of medicine. So, I really believe this is important; however, I can't do an ad for something this important and have you, the viewer, think that I'm just shilling for a company and saying what they want me to say because they're giving me money. So, I set up the following terms.

I said, look, I'll do this video if, number one, I get to ask any question I want of anybody, and I get to say whatever I want as long as it's true. And they said yes to that. And number two, I want access to the labs with my camera, and I want to be able to ask the scientist questions, and they said yes to that, and that never happens! That's awesome.

And number three, I told them I actually wanted them to sponsor the video, which they did. So, to their credit, 23andMe is sponsoring a transparent video, which is a little scary for them because they have no idea what I'm gonna say. So, here we go! Let's do this.

When you get the kit, it's pretty clear how this exchange works. I give up genetic material, and I get health and ancestry data back, but that's scary. I don't know what they're gonna do with my sample. I don't know exactly what I'm giving up. When I ask people on Twitter, everybody cited privacy concerns. So, just for a second, let's pretend that we can't trust this company. We need to go to an independent third-party expert that knows exactly what type of information we're giving up when we spit in a tube and mail it to 23andMe.

So when a lot of people think about Huntsville, Alabama, they think about the space industry, like the Saturn 5, right? But what you didn't know if you get on Google Maps and go to 601 Genome Way, you're gonna see a double helix you can see from space. That is this place. No joke. Huntsville, Alabama is home to one of the largest DNA sequencing centers in the entire world, and it's in my hometown; like, I see these people at PTA meetings.

The HudsonAlpha Institute for Biotechnology is where Dr. Neil Lamb, a PhD in human genetics, works. We're going in here and learning about DNA sequencing.

Hey, are you Neil?

NEIL: I am.

DESTIN: Hey, I'm Destin.

NEIL: Nice to meet you.

DESTIN: Nice to meet you, yeah.

NEIL: Welcome to HudsonAlpha.

DESTIN: Chris, nice to meet you guys. Hey, how you guys doing, you doing all right?

NEIL: Welcome to the Institute.

DESTIN: Yeah, thank you. This is fancy.

NEIL: Is this your first time here?

DESTIN: No, actually, I upload stuff to the YouTube channel here because you have the fastest internet connection in the city. Did you know I did that?

NEIL: So, we're headed to the genome sequencing center, which is all of the sequencing machines that we have at HudsonAlpha.

DESTIN: Ok, so these are the sequencers, right? Full-blown DNA sequencing.

NEIL: These are DNA sequencers. This is really the heart of HudsonAlpha. These machines are designed to take an individual or an organism, to sequence it's broken up into small pieces and the sequence A's, T's, C's, G's...

DESTIN: For the entire genome?

NEIL: For the entire genome.

DESTIN: Like how much data are we talking there, in bytes?

NEIL: So the raw data that comes out of this machine is about 80 gigabytes of information for one human genome.

DESTIN: Okay, this explains why the fastest internet node in the city is at HudsonAlpha.

NEIL: That is correct.

DESTIN: Does 23andMe have like a bank of machines like this?

NEIL: 23andMe uses a completely different technology for genotyping.

DESTIN: So what's the difference between genotyping and full-blown DNA sequencing?

NEIL: So to answer that question, let me show you another illustration. This is a representation of your genome. There's a hundred notebooks on the bookshelf, and I want you to imagine that each of those notebooks has 5000 double-sided pages full of nothing but DNA sequence.

DESTIN: Adenine, cytosine, thymine, and guanine.

NEIL: Exactly right, so you've got two copies, that copy you inherited from your mom and the copy you inherited from your dad. So this is a representation of one of those two copies. The amount of information that you're gonna get from 23andMe is not all three billion bits of information. Instead, it's more like about 90 pages.

DESTIN: Really? Now, what's the difference in genotyping and just doing a DNA sequence, what's the difference between those two things?

NEIL: Right, in DNA sequencing, I'm reading through every single letter in your genome. With genotyping, I'm going to a specific place, and I'm saying at this one site, what do you have? And with genotyping, I'm doing that... well, for 23andMe they're doing that at about 600,000 sites across your genome.

DESTIN: So it's not like you're giving away your entire DNA sequence when you do something like this.

NEIL: That's right. You're only giving away a tiny fraction of your genetic information when you do something like 23andMe.

DESTIN: Okay, got it. It's not your entire sequence; I thought it was. I thought they were gonna be Destin clones walking the streets. But if you do the math, it's only 0.02% of your sequence. That's a game-changer! They should like put that on the website or something.

Okay, was at this point that I was invited to an education summit headquarters in Mountain View, California. My wife, who's really smart when it comes to genetics, insisted that she take my place for reasons I'll let her explain.

TARA: I am a medical professional as someone who's done genetic research in the past and wanted to know if it would benefit you guys there or if it would harm you guys. So I'm here!

DESTIN: This part is super cute to me because she doesn't like to be on camera that much. But I asked her to vlog just a little bit. She went and talked to professors and researchers from all over the country, and they discussed the different benefits and risks of doing this type of testing, both on the individual level and its overall implications for society.

The main thing she learned is that the optional questions are the key. When people answer the question, scientists can start to figure out what genotypes affect what traits. We decided, as a family, that we want to contribute to the overall genetic body of knowledge because that's going to help society in the future.

Okay, after you decide to spit, you are about to send your genetic information off to a third party. Kind of scary... so I set up an email address specifically to do the kit, and it's pretty interesting because there's no return address. So really the only indicator for which tube is mine is this 14-digit code. I spit in the tube; you’re smart, you can figure that part out. And you write down that 14-digit code on the tube and link that to the email address, and that goes to 23andMe headquarters.

The kit, however, does not go to 23andMe headquarters; it goes to LabCorp, a completely different company. After doing some research, I discovered that 23andMe has isolated themselves physically from the samples. LabCorp has samples and numbers; 23andMe has email addresses and numbers. I decided to spit in this thing and then chase it out to California to see what happens when it hits the door of the lab.

This is the first time LabCorp allowed someone like me into the lab with a camera. I was introduced to the lab manager, Amanda Douglas, and was told I could film anything and ask any question I wanted.

AMANDA: So we're at the National Genetic Institute.

DESTIN: National Genetics Institute, okay.

AMANDA: It's a subsidiary of LabCorp.

DESTIN: No way, is that the FedEx guy that brings the stuff in? What's up, man? Do you bring all the samples here?

FEDEX GUY: Yes, I do.

DESTIN: Nice to meet you, man. This is way more behind the scenes than I thought it was gonna be.

AMANDA: This is a small batch, so we open them by hand, but with larger batches, there's a conveyor belt.

DESTIN: Really?

AMANDA: And that will cut them open.

DESTIN: And so you open them, and you... Oh! He's actually got the sample, okay, so what's your name, man?

LONNIE: Lonnie.

DESTIN: Lonnie, I'm Destin, man! Nice to meet you. Alright, so we got our spit in the system; now what?

AMANDA: Alright, so now that the spit is in the system, we'll know... ok, let's go ahead and test the ones that are ready to test and then they'll move on to the lab.

DESTIN: Is that where we're going now?

AMANDA: That's where we're going now.

DESTIN: Sweet! These are all specimens here. So Lonnie has done his thing, we come in here, and we're ready to extract the DNA.

AMANDA: That's right.

DESTIN: Okay.

AMANDA: So we'll go on here.

DESTIN: Oh, this is so rad... Oh god! This is like from the future. What are you guys doing?

LAB TECHNICIAN: I'm currently uncapping specimen sample, to be able to put them into the Tecan, which will then take a little small amount of this into the 96-well plate.

DESTIN: Okay, so these machines are autonomously taking the samples out of the specimen tube that people mailed in, and then it's automatically putting those into the 96-well plate. That's what we're doing, got it. Okay, so this is the first time where we no longer have humans touching it, and we're moving towards a machine automated process.

LAB TECHNICIAN: Exactly.

DESTIN: Is that it? I would high-five you, but you've got gloves on.

I spent the entire day with Amanda learning the whole process, and basically, it works like this: first, they isolate the DNA and then they amplify it by allowing it to replicate, and then the magic happens. This chip is the secret to genotyping. Basically, they take the DNA, and they unzip the double helix, which leaves you with one side of a ladder rung. They then put this unzipped DNA onto the chip, which has thousands of artificial DNA probes on it. These probes are basically long stretches of DNA that match known parts of the human genome.

So when a ladder comes along and gets beside the probe, it's a perfect match and will bind to it. Since this stretch of DNA is a known sequence, you can then read the next base pair that's hanging off of the probe, and that's the specific information for that base pair. They do this by a fluorescent marker that they'll put on the chips, which reacts to different kinds of light. These specific locations are chosen because they're associated with something interesting, like a disease risk or a physical trait. This fancy machine illuminates the chips and takes a picture, which tells you what letter you have at that particular DNA snip, or single nucleotide polymorphism, and that's it. That's how the data is captured.

The next thing I wanted to know is what happens after your sample is tested. On the website, you could choose to allow LabCorp to keep the sample on long-term storage for future testing, or you can check a box and tell them to destroy it. I asked Amanda if she would show me this because a lot of people want to know if they check that box; it's actually gonna happen. Amanda has agreed to show me the process.

It's really exciting, I'm told.

AMANDA: Oh yeah, you're in for excitement here, so we take a box of 120 samples that we've scanned and said, "This sample is to be discarded." The customer does not want to store it long-term. So, once they're ready to be discarded, we'll take the samples and throw them in the trash.

DESTIN: And we simply toss them into the trash?

AMANDA: Yes, we just throw them away.

DESTIN: And then what happens to it? Like, I really expect you that you're hiding the samples somewhere, right? You're gonna do something crazy with them, right?

AMANDA: We just throw them away.

DESTIN: And they go and they are destroyed at a biomedical waste facility.

AMANDA: That's right.

DESTIN: So we're kind of goofing around here, but it is important, so she showed me the entire process. The samples are consolidated, they're kept under lock and key, and they're picked up daily. It's legit.

So, I am satisfied with the process; obviously, 23andMe knew I would be satisfied or they wouldn't have allowed me to do this, but it was really fun to anyway. I really enjoyed the ancestry data a lot more than I thought I would. I elected to talk to my dad about it. We had a really good discussion, and we actually learned things about our family together.

The health stuff is interesting though. It is your responsibility to understand what those results mean and to get a better handle on this. I decided to go talk to Dr. Lamb again, the unbiased third party at HudsonAlpha.

NEIL: I found the information really fascinating; it gave me some insight into myself. But I'm... I have a background in human genetics. That's my PhD, so I got all the nuances. I understood what that means and what that doesn't mean.

DESTIN: So what you're saying is even if someone does 23andMe and they get that information about their own body, it's important to go the next step and understand what you're learning about your body? That's what you're saying.

NEIL: And to bring your medical doctor into those conversations and to make sure that your doctor understands the nuances of genetics as well. They're a piece of information, and you've got to make sure you understand what that piece can and can't tell you. And in a lot of cases, you have the decision; you can make the decision, do I want to even know this information? Or do I want to not look at that part of my report?

DESTIN: Got it, okay. And to be clear, Neil has nothing to do with 23andMe.

NEIL: That's correct.

DESTIN: Okay, so that's an unbiased third-party opinion. Thank you for that.

NEIL: My pleasure.

DESTIN: Okay, in summary. I was concerned about privacy. I went to the lab. I am no longer concerned about privacy. They've got a good handle on that.

You were concerned about the data; the benefits outweighing the risks, do you feel like it does?

TARA: I do feel like the information is helpful for society as a whole as well as the individual.

DESTIN: Okay, and there's three things you said you wanted to bring up.

TARA: I did. One, I want you to realize that just because the report says that you have a marker, it doesn't mean you're gonna get that; it means you're more or less likely to have that trait. Number two, only gather the information that you think you can handle. So, if you think, "Hey, I'm not sure I want to know that," then wait.

DESTIN: Some people only do the ancestry thing because they don't want to know those health risks.

TARA: Right. And three, you need to realize that it's a family affair. I mean, once you find out your data, it's really your family's data. So you may have to make decisions on whether you should share that information with your mother and father or brother and sister or whether you shouldn't.

DESTIN: If this is something you want to do, you can go to 23andMe.com/smarter, get a tube, spit in it, send it off, and get your data back. If you want to do that, feel free to; if not, no big deal. Thank you to 23andMe for actually letting us more or less investigate their company and being so transparent; that was pretty cool. Nobody's ever gone into the lab like that before.

TARA: Do you think it's a good thing?

DESTIN: I think it's a fun thing, yeah.

DESTIN: Anyway, I'm Destin; you’re getting smarter every day. It's my wife Tara. That's it. Have a good one! Bye.

No private or health information about any individual was recorded or shared in the making of this video. I am gonna try to vlog for the first time. I'm not comfortable on camera, so this should be pretty interesting. Even in the screen, and it's not if I guess; oh, I keep looking at the screen; you are going to... I keep looking at the screen. I'm not good at this. Okay, next.