Feb 23 2021

Forensic Genealogy and Missing Persons Cases

In this interview, we talk with Dr. Bruce Budowle, Director for the Center for Human Identification at the University of North Texas Health Science Center to learn more about the challenges that come with identifying missing persons cases and how forensic genetic genealogy is becoming a powerful tool to provide identities.

Dr. Budowle began his career at the FBI as a Research Scientist developing new methods for identifying genetic markers for crime scenes and evidence and has been integral to the forensic DNA field as it has grown over the years. He is also one of the few who has attended every ISHI symposium since the beginning.

To learn more about forensic genetic genealogy, we invite you to view our playlist on YouTube.

Transcript:

Laura: Good morning! We are here today for our annual International Symposium on Human Identification videos and we have Bruce Budowle with us. Bruce, why don’t you tell us a little bit about you?

Bruce: It’s an interesting question these days given the Shelter in Place approach. Sometimes we forget who we are and what we’re doing. But, I have a doctorate in genetics. I did a post-doctoral fellowship at the University of Alabama at Birmingham in both cancer and diabetes research. From there, I went to the FBI. Started out as a Research Scientist developing new methods for identifying genetic markers for (obviously) crime scenes and evidence. I left the FBI as the Senior Scientist of the Laboratory Division in 2009 and went to Texas. I’m now the Director for the Center for Human Identification at the University of North Texas Health Science Center.

Laura: That’s excellent. Why don’t you tell us a little bit about the work you’re doing there, particularly in identifying missing persons.

Bruce: Well, we have a rather unique situation in that we are a recognized crime laboratory in the state of Texas. We manage the Missing Persons database as you just eluded to in your question, but we also do traditional casework. While being a university laboratory, we also have a unique situation in that we’re a CODIS laboratory, so that we can upload and do searches in CODIS to help develop investigative leads, solve crime, and identify missing persons. We have a research facility, so one of the unique labs that do research and casework. And being a university, we also teach and train students and people from the community; professionals who seek help in this area. Now, in the missing persons area, we are the missing persons lab for the state of Texas, but also (through funding from the National Institute of Justice), we provide the service to the rest of the county for free to help identify missing persons through DNA typing and sometimes through anthropological work to help develop associations that medical examiners and other legal professionals can use to help identify missing persons.

Laura: Wow, that’s really remarkable. I imagine you come across many different types of cases doing this type of work. What are the challenges associated with identifying missing persons?

Bruce: Some of these are the same as with any other case. Often, we have limited materials. Most of the time, we’ll have bones, but bones have been exposed to the environment. DNA will be degraded, and may have chemicals that inhibit the PCR process. There’s a large amount of microbial materials that are in there that can impact our success rates. The other thing though with missing persons is that we often need family members to help identify the individuals. It’s not the typical crime scene case where you have a blood stain, let’s say, and then a suspect that you compare 1:1, either someone who’s been arrested, or is a person of interest through a database search. We need family members to reconstruct potential matches to see if this sample fits that individual or a set of individuals. So, now we have a different problem, which is finding those family members who can provide the proper genetic information to help us identify the individual.

Laura: Absolutely. And that kind of segues into the talk that you gave. You talked about forensic genealogy and it’s applications, in particular in cold cases, but forensic genealogy has been all over the news and people are using it all kinds of different ways. Why do you think it’s a powerful tool.

Bruce: In some senses, we’ve been using forensic genealogy in missing persons for years. Missing persons is a forensic genealogy approach. Our typical approach is that we take the DNA, we generate an STR profile, we search the DNA database, and we look for a direct match. And at times, there are no direct matches that are obtained. A good percentage of the time, depending on what stats you use, 50-70% of the time in the United States, we’re not going to get a hit using database search. Typically our database searches are CODIS. When those happen, there are some typical techniques, such as familial searching that says, ok, there aren’t any direct matches, but are there any matches in the database that look similar? They may be a relative of the donor of the biological sample that you found at the crime scene. You identify some individuals that might fit that and then you do the typical search with other records and information to see if that individual has a relative that could be the source of the evidence. So, that’s one way of doing it. Another way is to use Y-STR typing, which has been very successful in cases in Arizona. Colleen Fitzpatrick did a very nice investigation and helped identify the true perpetrator of that crime. The Dutch had a dragnet approach that they did when they identified the individual using Y-STRs instead of any other approach. And now we have this other one that’s been known as investigative genetic genealogy, but most people are thinking of today, in which we use dense SNP panels, basically scanning the entire genome and having millions of markers (in theory) that could be used to extend your reach into the potential relative of the source of the material. When we do traditional familial searching or parentage testing or missing persons testing, we’re often looking at a first degree relative to help us identify the individual. Genetic genealogy, as what you’re thinking about, and what most of the talks at this meeting are about, extends beyond the first degree relative. You’re looking at second, third, fourth, even out to seven or eight generations away and opens up the potential if you’re willing to roll up your sleeves and do the post-investigation that’s non-genetic at that point, or part non-genetic.

Laura: You know, that’s absolutely fascinating and watching it over the past few years and where it’s gone and where it has the potential to go. Were there any surprising questions that came up in the workshop? What are people talking about these days?

Bruce: There wasn’t so much surprising ones, because of course, all of us are involved, and I was in a workshop with a very good group of people like Barbara Rae-Venter, Steve Kramer, and James Anstead, who have all worked in the area as well. So, we probably heard all of these questions before. But some of them are typical; how much DNA do you need? What are some of the challenges getting DNA from materials like bone and so forth? What are the legal issues around it? What are the ways to challenge it if you’re a defense attorney and the validation or validity of it? So, in some ways, not so different than some of the other advances we’ve had. People ask the same sort of things. It’s just an interesting one, because this is outside of the realm of the crime lab for most laboratories and it’s out in the private sector doing the work. So now we have all these powerful tools that is rivaling and surpassing some of other tools like CODIS and it helps, in particular, with those challenging cases and those cold cases that have not had any resolution to date.

Laura: Ok. What do you think the future looks like? I know we’re asking you to guess, but…

Bruce: No, it’s always good to look into your crystal ball, because if you predict out far enough, and I won’t be around anymore, so it doesn’t matter if I’m right or wrong. No, the future is good and rosy in a lot of ways, because we have a lot of tools. And it’s not about one tool is better than another or that one will replace another. We have more tools, and we can answer more questions. If we take sort of a systematic approach where we say, here is the case we have, here’s the type of materials, and here’s the question that we need answered. What’s the best tool to help us do that? If we take that approach, we’re going to solve more cases, and that’s our job: to help solve cases, identify those who may be the source of the evidence, and, at the same time, exonerate or exculpate those who are wrongly associated with the evidence. To me, another tool that does that and is powerful is always welcome.

Laura: Absolutely, absolutely. So another question that’s a bit off-topic is this was the first year that ISHI was virtual given the pandemic. So, how did you find it? We’re at the end of the week, what did you think?

Bruce: Well, in some ways, it was quite good, because you could pick and choose when you go to a talk, so the timing was quite good. Usually in the meeting, someone’s always pulling me aside and asking if we can meet now, and it’s always in the middle of a talk, so you don’t really get the chance to enjoy everything. Here, you can say, it’s 5am in the morning, no one’s going to bother me, I’m going to listen to the talks. So, that side is good. The other side; there is something about human contact and meeting face to face with somebody that you can’t achieve virtually, even with all the tools that we have such as Zoom, Go To Meeting, Teams, and such. So, you don’t get that kind of dynamic interaction of discussion where you can say, “I’ve got a great idea, what do you think?” So, that I think was lost on this meeting and that it didn’t have. Then, on the other hand, it was more convenient and accessible.

Laura: Largest group ever, it’s amazing.

Bruce: Yeah, we had a workshop and we had close to 900 people in a workshop, which is almost impossible if you think about it in some other venues. In our own work, we found that these meetings approaching the virtual way may be a better way to teach than we originally thought. We’re doing a lot of training in Central America on developing capacity and databases to combat human trafficking and violent crime. What we’d do is say that we’re going to develop a workshop and come in and for a whole week we’ll train you on DNA extraction and typing and interpretation. It’s quite overwhelming to do it all in one week. So, they get overwhelmed and it’s data overload. Plus, they have all the work to do that you’re taking them away from. And now, it’s all building up so that when it’s done, you need to go back to work and catch up. You don’t effectively get to train people, and now what we’re doing is once every week or every other week, we do a 2-hour lecture. They absorb it better, there’s far more questions, and when they follow up, they’re asking deep, deep questions, because they’re able to enjoy it, appreciate it, and think about it. So, there may be some real value in maintaining some of this virtual approach, because we may be more effective at getting our messages across than the way we always thought was better.

Laura: It’s really fascinating. I’m really appreciating how much we’re learning by force (I wouldn’t ask for this), but trying to make the best of it and trying to find new ways and making things more accessible, it’s kind of remarkable.

Bruce: It’s just like science with anything. When you see a challenge, you do anything to overcome it, and this is just a challenge and we’re finding ways to overcome it to figure out what the new normal is. The reality is that we’re using these tools far more so and doing stuff far more effectively than we have in the past.

Laura: Yes, it’ll be wonderful to be using the tools and see people.

Bruce: Exactly

Laura: Anything else that we missed? Anything else that you’d like to talk about?

Bruce: Well we are working on our own methods to deal with these very challenging samples, so we’ll probably be one of those labs that does bring on the whole-genome sequencing for our work and we’re in the process of obtaining equipment as we speak so we can do that work. We’re also looking at other methods to reduce the size of the amplicons that you generate during PCR to be able to tie in very challenging samples and in our lab we work with a company called Nimogen (I don’t know if you’ve heard of them). They have a one-step library preparation and with them, we co-designed a panel of SNPs that are 50 bases in size. That’s about the shortest you can get with a SNP. Basically you’re right up against the SNP itself, and we were able in our first study to identify SNPs in 1,000 year-old bones from Kings of Aragon, so now we want to pursue this technology further for our type of work, which is degraded samples. We’re very optimistic that we’re going to be able to create a panel of about 80 SNPs and have some power that’s equivalent to an STR panel to address the same kinds of things that we traditionally do in a manner that feeds into the system. The nice thing about it is not only does it work with degraded samples, it exploits PCR sensitivity. You put everything into the tube and you close it and you walk away, so there’s no sample manipulations or fooling around. So it’s all done in one day and it’s also done without a lot of hands on, so this is another one of those approaches. Other things we’re looking at is there’s still new materials and swabs and things to collect evidence for police like DNA, so they may not sound as exciting, but they’re just as critical. So, we’ve been doing a lot of work with Copan and companies like that that produce that. We’re also always eager for new kits to come out. You know, we just finished validating a mitochondrial sequencing panel for the whole genome that uses less DNA than we traditionally would with Sanger sequencing, and we see that there’s a new capillary electrophoresis instrument that’s on the market (Spectrum) that might be of interest to look at as well. So, there’s always things that could improve our process and we’re going to keep seeking them as much as we can to try to do a better job.

Laura: It’s a dynamic and exciting field. It’s really been exciting to watch the progression over the years. So, we’ll have to keep talking to you. I’m sure we’ll be wanting to do another video next year to hear the latest.

Bruce: Well hopefully we’ll do it in person.

Laura: That would be amazing. That would be amazing. Bruce, thank you. You’re always so gracious to join us. We really appreciate it.

Bruce: Oh, it’s been a pleasure and an honor. I guess I’m probably the only person that’s been to all of the ISHI conferences since day 1, so I have to show up or I’ll break my record.

Laura: Yes, we would not allow that to happen. Thank you so much, and have a great day!

Bruce: Thank you Laura, you too. Take care.

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